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Search results

  • All ePAG meeting

    All ePAG meeting is going to be an online meeting held from 14 to 17 November 2022. This year they have put together five short online sessions peppered throughout one week, from Monday to Thursday. Each day, they will have a session at 10.00-11.00 CET …

    This Event was last updated 3 August 2022

  • Duchenne Patient Academy 2022

    This year, the 6th edition of Duchenne Patient Academy will take place. The Academy provides online  training for Duchenne and Becker muscular dystrophy (DMD/BMD) patient advocates. This year’s theme is ‘Changing Perspectives’ and it will take place on …

    This Event was last updated 3 August 2022

  • Replies and comments to CPMS Blog entries

    CPMS blog replies and commentsThrough this form you can send your reply, questions or comments about what you read in this CPMS blog. We will publish it upon review, so do not fill the form if you do not consent to its publication or contact us (info@e …

    This Post was last updated 3 August 2022

  • Euro-NMD Executive Committee Meeting 26/09/2022 at 18H00 CET

    Agenda: link to be inserted Zoom link: link to be inserted Minutes: link to be inserted

    This Event was last updated 2 August 2022

  • ERN meetings

    This Page was last updated 2 August 2022

  • Who’s who in EURO-NMD

    Name Institution Adriano Chiò University Hospital Città della Salute e della Scienza of Torino, Italy Albert C. Ludolph Universitätsklinikum Ulm (UKU) in cooperation with the Universitäts und Rehabilitationskliniken Ulm (RKU) Alejandra Pereda  Duchenne …

    This Post was last updated 28 July 2022

  • Application Form for the 4th Neuromuscular Translational School

    Neuromuscular Translational School 2022 About youFirst name(required)Last name(required)Email address(required)Your affiliation(required)What is your background?(required)ClinicianPatient AdvocateRegulatoryResearcherOtherPlease give us more information …

    This Post was last updated 27 July 2022

  • We are hiring !

    The European Reference Network (ERN) EURO-NMD is looking for a : Senior Project Manager (M/F) Click here for more information !

    This Post was last updated 25 July 2022

  • HCP list with CPMS code

    CODE INSTITUTION CITY COUNTRY ATTACHMENT AT04 MEDICAL UNIVERSITY INNSBRUCK INNSBRUCK AUSTRIA AT AT20 KAISER FRANZ JOSEF HOSPITAL WIEN AUSTRIA AT BE01 UNIVERSITAIR ZUIKENHUIS ANTWERPEN ANTWERPEN BELGIUM BE BE04 ERASME HOSPITAL BRUSSELS BELGIUM BE BE05 U …

    This Post was last updated 26 July 2022

  • Dr. Signe Šetlere

    This Contact was last updated 21 July 2022

  • Training videos on CPMS

    CPMS 1 login request CPMS 2 Request CPMS access CPMS 3 Consent patients for enrolment CPMS 4 Filling the Consultation Form CPMS 5 Finalizing the Consultation Form CPMS 6 Inviting panel experts CPMS 7 Video meetings and recording contributions CPMS 8 Wr …

    This Page was last updated 27 July 2022

  • CPMS videos list

    This Page was last updated 15 July 2022

  • CPMS training videos

      Video 1 on CPMS: EU login request   Video 2 on CPMS: Request CPMS Access Video 3 on CPMS: Patient Enrolment https://share.synthesia.io/deed4535-dc05-4794-bb05-542c1f352794  

    This Page was last updated 15 July 2022

  • September 1st

    This is a webinar part of a “World Mitochondrial Awareness Webinar Series” organized by EURO-NMD, EAN, ERN-RND and ERN-Epicare. Delivered by Michelangelo Mancuso (Neurological Institute of the University of Pisa, Italy) on the 01 September 2022 at 16:0 …

    This Post was last updated 11 July 2022

  • EJPRD : Innovation Management Toolbox (IMT)

    The Innovation Management Toolbox is a reference library of resources in rare disease translational medicine. It is free to use and has been designed to provide investigators with self-help resources specific to their needs. Each resource is curated to …

    This Post was last updated 1 July 2022

  • MDUK Muscles Matter: Fatigue

    The aim of this webinar is to provide you with tips and ideas for managing fatigue – one of the most common symptoms experienced by people with muscle-wasting conditions. We will be hearing from different health professionals about factors that impact …

    This Event was last updated 30 June 2022

  • WORLD DUCHENNE AWARENESS DAY 2022 : Women & Duchenne

    The World Duchenne Awareness Day, will take place on September 7th, is the official campaign to raise awareness for people living with Duchenne & Becker muscular dystrophy. Each year, an educational theme is chosen; this year’s theme is Women and D …

    This Event was last updated 29 June 2022

  • Mitochondrial Optical Neuropathies

    Delivered by Dr. Chiara la Morgia (Institute of Neurological Sciences of Bologna, Italy, Italy) on the 29 September 2022 at 16:00 Paris Time This is a webinar part of a “World Mitochondrial Awareness Webinar Series” organized by EURO-NMD, EAN, ERN-RND …

    This Event was last updated 30 June 2022

  • Mitochondrial Movement Disorders

    Delivered by Dr. Chiara la Morgia (Institute of Neurological Sciences of Bologna, Italy, Italy) on the 21 September 2022 at 16:00 Paris Time This is a webinar part of a “World Mitochondrial Awareness Webinar Series” organized by EURO-NMD, EAN, ERN-RND …

    This Event was last updated 29 June 2022

  • Mitochondrial Genetics

    Delivered by Constanza Lamperti (Istituto Neurologico C.Besta, Milan, Italy) on the 22 September 2022 at 16:00 Paris Time This is a webinar part of a “World Mitochondrial Awareness Webinar Series” organized by EURO-NMD, EAN, ERN-RND and ERN-Epicare. …

    This Event was last updated 29 June 2022

  • Mitochondrial Epilepsy

    Delivered by Michelangelo Mancuso (Neurological Institute of the University of Pisa, Italy) on the 01 September 2022 at 16:00 Paris Time This is a webinar part of a “World Mitochondrial Awareness Webinar Series” organized by EURO-NMD, EAN, ERN-RND and …

    This Event was last updated 18 July 2022

  • CPMS

    CPMS blog

    If you want to reply to or comment posts please click here CPMS training videos A A 3 August 2022 We have now produced some short tutorial videos about essential CPMS user skills. We think they avoid sitting through long videos looking for tiny details …

    This Page was last updated 3 August 2022

  • Primary Mitochondrial Myopathies ​

    Delivered by Pr. Dr. Michelangelo Mancuso

    This Post was last updated 27 June 2022



  • Muscle ultrasound, a biomarker tool for muscular dystrophies

    This Post was last updated 27 June 2022

  • Duchenne Muscular Dystrophy Genetic Diagnosis

    Delivered by Prof. Alessandra Ferlini, Drs. Rita Selvatici, Francesca Gualandi and Carl Fratter.

    This Post was last updated 27 June 2022

  • Medical Survey Screen4Care about Machine Learning

    Within Screen4Care, an Innovative Medicines Initiative (IMI 2 JU), researchers are investigating medical specialists’ understanding, experience and attitudes regarding the application of machine learning (ML) in the diagnostic process of rare diseases. …

    This Post was last updated 21 June 2022

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  • What are EURO-NMD Centres and how can I find one?

    The centres part of EURO-NMD (also know as “healthcare providers”) can be found here. To be a member of the EURO-NMD network these centres fullfil a group of conditions. We monitor the activity of each of this centres regularly, to make sure they meet …

    This Post was last updated 8 June 2022

  • What is EURO-NMD?

    “EURO-NMD is a European reference network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by a …

    This Post was last updated 8 June 2022

  • 27th International Hybrid Annual Congress of the World Muscle Society

    The World Muscle Society is delighted to invite you to attend the 27th International Hybrid Annual Congress of the World Muscle Society that will take place 11th – 15th October 2022, in Halifax, Nova Scotia, Canada. The congress venue is the Halifax Co …

    This Event was last updated 7 June 2022

  • 19th CATANIA INTERNATIONAL SUMMER SCHOOL OF NEUROSCIENCE

    Rare Diseases and Neurosciences This summer school will offer a high level, intensive educational program carried out by an excellent international faculty to 40 Ph.D. students, postdoc fellows and residency’s students in genetics and neurology. The ma …

    This Event was last updated 7 June 2022

  • Confirm

    Your subscription to the EURO-NMD newsletter is confirmed.   To manage your subscription please visit: https://ern-euro-nmd.eu/newsletter-signup/  

    This Post was last updated 7 June 2022

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    This Page was last updated 7 June 2022

  • WPMS HTML Sitemap

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    This Page was last updated 7 June 2022

  • Unsubscribe from the newsletter

    This Post was last updated 7 June 2022

  • EURO-NMD endorsement of educational activities

    We invite all the members to apply for ERN EURO-NMD endorsement of their educational activities. The following conditions must be met by endorsement applications: The main organiser or co-organisers must belong to the ERN EURO-NMD The event has to take …

    This Page was last updated 11 July 2022

  • Myotonic dystrophy type 1: from DNA repeat expansion and toxic RNA to the development of new therapeutic approaches.

    Delivered by Mario Gomes-Pereira & Arnaud Klein (Myology Research Centre, Inserm, Sorbonne University, Institute of Myology, Paris) on the 07 July 2022 at 16:00 Paris Time     Mario Gomes-Pereira has been working on myotonic dystrophy typ …

    This Event was last updated 12 July 2022

  • Launch of a continuously open survey for ERNs HCPs to report Ukrainian refugees care

    The ERNcare4ua.com website has recently launched a EU Survey to monitor the care delivered by ERNs to Ukrainian refugees. Despite the Coordination best efforts to report all cases coming to our knowledge, we would encourage each HCP to do their report …

    This Post was last updated 24 May 2022

  • European Health Data Space (EHDS)

    The European Commission launched the European Health Data Space (EHDS), one of the central building blocks of a strong European Health Union. The EHDS will help the EU to achieve a quantum leap forward in the way healthcare is provided to people across …

    This Post was last updated 6 May 2022

  • The ERN Research Mobility Fellowships call

        The call for Research Mobility Fellowships aims to support PhD students, Postdocs and medical doctors in training to undertake scientific visits fostering specialist research training outside their countries of residence. The exchange can …

    This Post was last updated 6 May 2022

  • Call for new patient representatives to join Euro-NMD

    In April 2022, 33 patient representatives from 23 patient organisations and 11 countries are involved in EURO-NMD.   What is the role of patient representatives? Euro-NMD patient representatives represent the voice and interest of their patient communi …

    This Post was last updated 5 May 2022

  • ProDGNE Meeting 2022

    The ProDGNE consortium invites you to register for the ProDGNE Meeting 2022 which will take place on 31st May in Lisbon, Portugal. The meeting aims to present ProDGNE, discuss impactful research in GNE Myopathy and expand the research network while bui …

    This Event was last updated 3 May 2022

  • Patient reported outcome measures (PROMs) survey

    We are conducting a survey in order to get a better understanding on the knowledge and use of Patient-Reported Outcome Measures (PROMs) by the healthcare professionals participating in the ERN EURO-NMD network of healthcare providers (Full Members and …

    This Post was last updated 29 April 2022

  • ERICA : Collaborative inter-ERN research wall

    ERICA aims to promote collaborative inter- ERNs research projects. It is therefore crucial to have a centralised location to announce any new project and search for collaborators. A specific web page has been created for this purpose on the ERICA websi …

    This Post was last updated 29 April 2022

  • Forum NMD

    [iphorm_popup id=”38″ name=”Blog”]Leave comments or suggest new posts by clicking here, please.[/iphorm_popup]   Read the posts here: Uncategorized Replies and comments to CPMS Blog entries By A A  /  3 August 2022 Read More euro-nmd Who …

    This Page was last updated 30 June 2017

  • Blog

    Uncategorized Replies and comments to CPMS Blog entries By A A  /  3 August 2022 Read More euro-nmd Who’s who in EURO-NMD By A A  /  28 July 2022 Name Institution Adriano Chiò University Hospital Città della Salute e della Sci …

    This Page was last updated 30 June 2017

  • David Adams

    David Adams is Head of the French National Reference Centre for Familial Amyloidotic Polyneuropathy (FAP), a position held since 2005, and has been the Coordinator of the French Network for FAP (CORNAMYL) since 2010 and built the European Network for ATTR amyloidosis (ATTReuNET) in 2015. He was made a Professor of Neurology at the Université Paris Sud, France in 1996. In 2009, he became Head of the Department of Neurology Centre Hospitalier Universitaire Bicêtre (CHU), at Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Sud. His main areas of expertise are peripheral neuropathies, including FAP and other rare peripheral neuropathies. He has been particularly involved in the evaluation of the effects of liver transplantation on neuropathy in FAP patients in France since 1993, and the neurological risks of domino liver transplantation. He is Principal Investigator in many multicentric clinical trials for FAP. He is now involved in research programmes of early diagnosis in sporadic cases and genetic carriers. Professor Adams was an Advisory Board member for the International Symposium on FAP, and the International Symposium on Liver Transplantation in FAP since 2007. Professor Adams also served on the local organising committee for Biennal Peripheral Nerve Society in Saint-Malo (France) in July 2013. He organized the first European Congress for ATTR Amyloidosis the 2 and 3 november 2015 in Paris. He was elected in the board of Peripheral Nerve Society since 2015 and in the board of member of European Academy of Neurology Scientific Panel Neuropathies since 2015. Professor Adams has published 110 articles in national and international journals, including Annals of Neurology, Archives of Neurology, Brain, Current Opinions in Neurology, JACC, JNNP, Nature Reviews Drug Discovery, Neurology, New England Journal of Medicine, and PNAS.

    This Contact was last updated 27 April 2022

  • 3rd International Muscle-Bone Interaction in Duchenne Muscular Dystrophy Symposium

    Since the latest international standards of care for Duchenne Muscular Dystrophy (DMD) were published in 2018, which prompted greater emphasis on regular vertebral fracture monitoring and early treatment of bone morbidity, the landscape of DMD care has …

    This Event was last updated 27 April 2022

  • Andoni Echaniz-Laguna

    Professor Andoni Echaniz-Laguna, MD, PhD, is a neurologist in the Department of Neurology at Bicêtre University Hospital, Paris, France.

    This Contact was last updated 27 April 2022

  • CPMS: simplifying the access request process

    From DG Health “DG Health is looking for solutions that guarantee a high level of security and easier access to the CPMS. In the context of the quick wins we’re continuously implementing in the current CPMS, we’re analysing the possibility to reduce th …

    This Post was last updated 28 April 2022

  • Jaw malformations and teeth malpositions in Neuromuscular Disease

    This is a EURO-NMD webinar in collaboration with ERN-RND (rare neurological disorders) and European Academy of Neurology. READ CAREFULLY please: By registering and attending the webinar you consent to the recording of the webinar and its later diffusio …

    This Event was last updated 13 July 2022

  • Trine Haug Popperud

    Trine Haug Popperud is a Senior Consultant in Neurology at the Department of Neurology, Oslo University Hospital, Norway.

    This Contact was last updated 19 April 2022

  • EJP RD MOOC#1 “Diagnosing Rare Diseases: from the Clinic to the Research and back”

    This MOOC has been codeveloped within the WP16 of the EJPRD by FFRD, ERN Genturis and ERN Ithaca. The course is designed for individuals with a keen interest in diagnostic research and rare diseases We thank you in advance if you can disseminate the li …

    This Event was last updated 15 April 2022

  • Share4Rare webinar: Medical imaging in rare disease diagnosis

    On the next Share4Rare webinar they will talk about the potential of clinical imaging in rare disease diagnosis and research. The guest speaker will be Dr. Josep Munuera, radiologist and Head of the Quality, Innovation and Research Section of the Diagn …

    This Event was last updated 11 April 2022

  • ERN Euro-NMD Exchange Programme 2021-2022

    Following the ERN’s motto: “knowledge travels, not the patient” we are pleased to announce that the EU is funding an Exchange Training Programme. Through this programme your travel costs will be financed, and you will receive a daily allowance of 200€ …

    This Post was last updated 2 August 2022

  • EJPRD : The ERN Research Training Workshops call

    Aim of the call The goal of the workshops is to train researchers and clinicians affiliated to ERN-Full Members or – Affiliated Partners in relevant topics on research in rare diseases. Training themes may include innovative research methodologies, dia …

    This Post was last updated 1 April 2022

  • Solve-RD workshop : Navigating the Sandbox

    OBJECTIVES This combined webinar & workshop will provide an update on Solve-RD Sandbox services/functions, and also consider future plans, needs and possibilities. Intended participants include ERN data controllers/producers (to ensure that their d …

    This Event was last updated 30 March 2022

  • Solvor Skaar

    Occupational therapist at Frambu Resource Centre for Rare Disorders.

    This Contact was last updated 29 March 2022

  • Mari Ellefsen Martinsen

    Specialist in child and adolescent physiotherapy

    This Contact was last updated 29 March 2022

  • Multiple system atrophy: translational research approaches

    Next webinar organised by ERN-RND will be on : ‘Multiple system atrophy: translational research approaches’​ by Nadia Stefanova 20 September 2022, 3-4 pm CEST The speaker is full professor and leads the Laboratory for Translational Neurodegeneration Re …

    This Event was last updated 28 March 2022

  • Importance of autopsies in leukodystrophies

    Next webinar organised by ERN-RND will be on : ‘Importance of autopsies in leukodystrophies’​ by Marianna Bugiani 12 July 2022, 3-4pm CEST The speaker is Neuropathologist at the Amsterdam University Medical Center, the Netherlands.

    This Event was last updated 28 March 2022

  • Biofluid biomarkers in atypical parkinsonism

    Next webinar organised by ERN-RND will be on : ‘Biofluid biomarkers in atypical parkinsonism’​ by Per Svenningsson 21 June 2022, 3-4pm CEST The speaker is Professor and research group leader at the Department of Clinical Neuroscience at the Karolinska …

    This Event was last updated 28 March 2022

  • Mitochondrial leukodystrophies

    Next webinar organised by ERN-RND will be on : ‘Mitochondrial leukodystrophies’ by Anna Ardissone 24 May 2022, 3-4pm CEST The speaker is Child Neurologist at the Institute of Neurology Carlo Besta, Milan, Italy.

    This Event was last updated 28 March 2022

  • Survey for patients: Unmet needs of rare and complex diseases related to pregnancy and family planning for patients and caregivers

    ERN Euro-NMD is participating in  a transversal cross-ERN Study Group on Pregnancy and Family Planning in Rare, low prevalence and complex diseases.   The resulting surveys have the aim of collecting Europe- wide evidence on the management of this …

    This Post was last updated 1 July 2022

  • 11th EUROPEAN CONFERENCE ON RARE DISEASES & ORPHAN PRODUCTS

    The ECRD is recognised globally as the largest, patient-led rare disease policy event in which collaborative dialogue, learning and conversation takes place, forming the groundwork to shape goal-driven rare disease policies and allow for important and …

    This Event was last updated 16 March 2022

  • Rosa Iodice

    Rosa Iodice,MD, is a general neurological specialist with particular expertise in clinical neurophysiology and electrodiagnostic testing of neuromuscular disorders.

    This Contact was last updated 16 March 2022

  • #ERNcare4Ua – Solidarity with Ukraine

    The European Reference Networks have set up a support platform to help Rare Disease patients and their families caught by the ongoing Ukranian crisis. The adjoining link will give more information about any of the 24 networks dedicated to rare and low …

    This Post was last updated 27 June 2022

  • Claudio Bruno

    Dr. Bruno has focused his clinical and research activity on neuromuscular diseases, particularly, muscular dystrophies, spinal muscular atrophy and metabolic diseases.

    This Contact was last updated 9 March 2022

  • Magnhild Rasmussen

    Magnhild Rasmussen MD, PhD is a neuropediatrician with a longstanding main interest in pediatric neuromuscular disorders

    This Contact was last updated 8 March 2022

  • Marianne Nordstroem

    Marianne Nordstrøm is clinical dietitian at Unit for Rare Neuromuscular Disorders, Oslo University Hospital and Frambu Resource Centre for Rare Disorders in Norway.

    This Contact was last updated 8 March 2022

  • Regulatory harmonisation of clinical trials in the EU and launching of the Clinical Trials Information System

    From EMA’s news webpage: On 31 January 2022, the Clinical Trials Regulation (CTR) will come into application harmonising the submission, assessment and supervision processes for clinical trials in the European Union (EU). The backbone of the changes br …

    This Post was last updated 7 March 2022

  • Digital Tools for Rare Disease (DT4RD)

    The DT4RD project brings together a multinational consortium consisting of Aparito, Paris Institut de Myologie (Institute of Myology), the John Walton Muscular Dystrophy Research Centre at Newcastle University, Yumen Bionics, Metabolic Support UK, alon …

    This Post was last updated 3 March 2022

  • MDUK Muscles Matter: Congenital muscular dystrophy (CMD)

    Muscular Dystrophy UK will host a Muscles Matter Seminar on Congenital Muscular Dystrophy on Tuesday the 29th of March from 10am – 12pm CET. The session will cover the latest research into congenital muscular dystrophy as well as information and advice …

    This Event was last updated 3 March 2022

  • Welcome to our new Patient Representatives !

    We wish a warm welcome to the four new patient representatives of Euro-NMD: Yasemin Erbas (SMA Europe); Maria Borrell (ASEM, Spain); Carolina Navalon-Martinez (Spanish Patients´ Association affected by Arthrogryposis Multiplex Congenita); Boryana Stoya …

    This Post was last updated 4 March 2022

  • Montserrat Olivé Plana

    This Contact was last updated 2 March 2022

  • Pierre Carlier

    Dr Carlier’s work specializes in NMR imaging and spectroscopy of muscle, with a particular interest in the use of these techniques as quantitative outcome measures.

    This Contact was last updated 7 March 2022

  • Rare Disease Day 2022

    Every year, Eurordis, the European Federation of Rare Disease Organizations, coordinates Rare Disease Day – the International Day for Rare Diseases – on the last day of February! In 2022, the 15th edition takes place on Monday 28 February. Rare Disease …

    This Event was last updated 28 February 2022

  • Rare Disease Day 2022

    Every year, Eurordis, the European Federation of Rare Disease Organizations, coordinates Rare Disease Day – the International Day for Rare Diseases – on the last day of February! In 2022, the 15th edition takes place on Monday 28 February. Rare Disease …

    This Post was last updated 7 March 2022

  • Kristin Oerstavik

    Kristin Ørstavik, MD PhD, is a Senior Consultant in Neurology and Clinical Neurophysiology. She is head of Section for Rare Neuromuscular disorders and EMAN at the Department of Neurology, Oslo University Hospital, Norway.

    This Contact was last updated 23 February 2022

  • Hanne Fossmo

    Physiotherapist working with rare neuromuscular disorders

    This Contact was last updated 21 February 2022

  • Simen Stokke

    Msc in Welfare and Labour Administration and Head of department at Frambu Resource Centre for Rare Disorders, and responsible for services related to hereditary neuromuscular disorders.

    This Contact was last updated 17 February 2022

  • Oslo University Hospital and the National Consortium on Rare Neuromuscular disorders

    This Healthcare Provider was last updated 17 February 2022

  • Expertise coverage by HCP

    HCP Country HCP City HCP Name Rare Muscle Neuromuscular Junction Peripheral Neuropathies Motor Neuron Diseases Mitochondrial diseases Belgium Ghent University Hospital Gent Y Y Y Y Y Belgium Leuven University Hospitals Leuven Y Y Y Y Y Belgium Antwerp …

    This Post was last updated 16 February 2022

  • Pirjo Isohanni

    Substitute representative who will participate as a member of the Board of the Network

    This Contact was last updated 17 February 2022

  • Mari Auranen

    Representative who will participate as a member of the Board of the Network

    This Contact was last updated 17 February 2022


  • Jochen Weishaupt

    Representative who will participate as a member of the Board of the Network

    This Contact was last updated 16 February 2022

  • Albert C. Ludolph

    Substitute representative who will participate as a member of the Board of the Network

    This Contact was last updated 16 February 2022


  • contact 18938

    This Contact was last updated 16 February 2022

  • Jonathan Baets

    Substitute representative who will participate as a member of the Board of the Network

    This Contact was last updated 16 February 2022

  • Peter de Jonghe

    Prof de Jonghe leads the UZA Neuromuscular Centre in Antwerp University Hopsital.

    This Contact was last updated 16 February 2022

  • Antwerp University Hospital (UZA)

    This Healthcare Provider was last updated 16 February 2022

  • George Papadimas

    This Contact was last updated 23 March 2022


  • Rita Selvatici

    Assistance activity with the University Hospital of Ferrara for the diagnosis of hereditary genetic diseases, University of Ferrara lecturer of Medical Genetics.

    This Contact was last updated 14 February 2022

  • Kristian Bernhard Nilsen

    Senior Clinical Neurophysiologist with research focus on neurophysiological methods for peripheral nervers and pain mechanisms

    This Contact was last updated 11 February 2022

  • Kristina Haugaa

    Kristina Hermann Haugaa, MD, PhD, FESC, Center Director of ProCardio Center for Innovation, Department of Cardiology, Oslo University Hospital, Rikshospitalet. She is also a Professor at the Institute of Clinical Medicine, University of Oslo and at Karolinska .

    This Contact was last updated 11 February 2022

  • Kjell Arne Arntzen

    Kjell Arne Arntzen is a consultant neurologist at The National Neuromuscular Centre, Norway, in Tromsø. His main interest is diagnostics, treatment and research on neuromuskcular diseases.

    This Contact was last updated 11 February 2022

  • Andreas Rosenberger

    Andreas Rosenberger is a clinical specialist in neurological physiotherapy, and centre leader of the National Neuromuscular Centre, Norway, at the University Hospital of North-Norway, Tromso.

    This Contact was last updated 11 February 2022

  • Basal ganglia diseases in childhood

    Next webinar organised by ERN-RND will be on : ‘Basal ganglia diseases in childhood’​ by Belén Perez Dueñas 12 April 2022, 3-4pm CEST The speaker is a Specialist in Pediatric Neurology at Vall d’Hebron University Hospital and Principal Investigator in …

    This Event was last updated 9 February 2022

  • The logopenic variant of primary progressive aphasia (lvPPA): language, cognitive, neuroradiological issues

    Next webinar organised by ERN-RND will be on : ‘The logopenic variant of primary progressive aphasia (lvPPA): language, cognitive, neuroradiological issues’​ by Robert Rusina and Zsolt Cséfalvay 5 April 2022, 3-4pm CEST Robert Rusina is a neurologist a …

    This Event was last updated 9 February 2022

  • Antisense oligonucleotide mediated exon skipping therapy development for Duchenne muscular dystrophy takes more than an oligonucleotide

    Next webinar organised by ERN-RND will be on : ‘Antisense oligonucleotide mediated exon skipping therapy development for Duchenne muscular dystrophy takes more than an oligonucleotide’​ by Annemieke Aartsma-Rus 29 March 2022, 3-4pm CEST The speaker is …

    This Event was last updated 9 February 2022

  • Measuring disease severity in chronic progressive myelopathy

    Next webinar organised by ERN-RND will be on : ‘Measuring disease severity in chronic progressive myelopathy’​ by Marc Engelen 15 March 2022, 3-4pm CET The speaker is pediatric neurologist at the Amsterdam University Medical Center, the Netherlands.

    This Event was last updated 9 February 2022

  • Brain Development in Huntington’s Disease

    Next webinar organised by ERN-RND will be on : ‘Brain Development in Huntington’s Disease’​ by Peggy Nopoulos 8 March 2022, 3-4pm CET The speaker is Professor of Psychiatry at the Carver College of Medicine, at the University of Iowa, USA.

    This Event was last updated 9 February 2022

  • RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments

    The RYR-1 Foundation’s first-ever “RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments” will occur from July 21-July 22, 2022, at the Hyatt Regency Pittsburgh International Airport, in Pittsburgh, PA, USA. For more det …

    This Event was last updated 3 March 2022

  • Rocco Liguori

    Full Professor of Neurology at the University Alma Mater Studiorum of Bologna and Chief of the University Neurologic Unit (Department of Biomedical and Neuromotor Sciences, University of Bologna and IRCCS – Institute of Neurological Sciences of Bologna)

    This Contact was last updated 8 February 2022

  • IRCCS Istituto delle Scienze Neurologiche di Bologna

    This Healthcare Provider was last updated 8 February 2022

  • Stefano Previtale

    Dr. Previtali is a Physician Scientist, with MD degree, Neurology specialty and PhD in Neurological Sciences.

    This Contact was last updated 8 February 2022

  • Angelo Schenone

    Full Professor in Neurology, Director Neurology Unit, IRCCS San Martino Hospital, Genova (since November 2018); Director, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic and Maternal Infantile Sciences, University of Genova (since November 2021).

    This Contact was last updated 7 February 2022

  • IRCCS Ospedale Policlinico San Martino

    This Healthcare Provider was last updated 7 February 2022

  • Fiore Manganelli

    Prof. Fiore Manganelli and his group actively cooperates with the Italian Charcot-Marie-Tooth and Chronic inflammatory demyelinating polyneuropathy networks and he participated as co-investigator or unit-coordinator on funded and non-funded multicenter projects.

    This Contact was last updated 7 February 2022

  • AOU Federico II

    This Healthcare Provider was last updated 7 February 2022

  • Yuri Matteo Falzone

    This Contact was last updated 9 February 2022

  • IRCCS Ospedale San Raffaele

    This Healthcare Provider was last updated 7 February 2022

  • EMA webinar on the pilot project to support the repurposing of medicines

    To support not-for-profit organisations and academia ahead of the upcoming deadline for submission (28th February 2022) of proposals for a pilot project to support the repurposing of medicines was launched at the end of October 2021 by EMA and the Head …

    This Event was last updated 4 February 2022

  • Stela Lefter

    Dr. Stela Lefter is a Consultant Neurologist with specialist interest in adult neuromuscular disorders.

    This Contact was last updated 21 July 2022

  • Duchenne Muscular Dystrophy Genetic Diagnosis

    Webinar ” Duchenne Muscular Dystrophy Genetic Diagnosis” Thursday 7th April 2022 16:00-17:15 Paris Time by: Alessandra Ferlini, Rita Selvatici, Francesca Gualandi and Carl Fratter Dystrophin (DMD) gene pathogenic variations cause dystrophinopathies, a …

    This Event was last updated 12 April 2022

  • Francesca Gualandi

    Dr. Francesca Gualandi (MD, PhD), is specialized in Medical Genetics and PhD in Biotechnolog

    This Contact was last updated 1 February 2022

  • Call for Members: IRDiRC Task Force on Drug Repurposing Guidebook

    The Therapies Scientific Committee (TSC) is establishing a Task Force on Drug Repurposing Guidebook to help developers (of all kinds) navigating the rare disease landscape and identifying specific tools and practices of relevance for repurposing projec …

    This Post was last updated 31 January 2022

  • Joint EJP RD & ERICA Workshop “Finding RD registry data in the Virtual Platform”

      Workshop EJPRD- ERICA Joint Workshop “Finding RD registry data in the Virtual Platform” Date 9 February – February 9th, 2022 Time 15:00 – 17:30 hr A hands-on session will be held for you (as Virtual Platform (VP) end-users) to test the first ver …

    This Event was last updated 31 January 2022

  • 2022 New Directions in Biology and Disease of Skeletal Muscle Conference

    The 2022 New Directions conference will be held Monday, June 20, 2022 through Thursday, June 23, 2022 in Ft. Lauderdale, FL! We are currently planning for an in person event. The tenth biennial meeting is organized by H. Lee Sweeney and Elizabeth McNal …

    This Event was last updated 31 January 2022

  • POSTPONED, SORRY (Gene therapy, cancer and neuromuscular diseases)

    POSTPONED, SORRY Delivered by Prof Sabrina Sacconi Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases. Pr. SACCONI starts to practice medicine in 1997 at Pavia in Italy a …

    This Event was last updated 21 April 2022

  • Quinta Giornata Malattie Neuromuscolari – GMN2022

    After the success of the previous editions, it has been decided to proceed with the fifth Day of Neuromuscular Diseases (GMN), which will be held in a virtual format. At the same time, 16 live webinars are planned, corresponding to the locations, linke …

    This Event was last updated 28 January 2022

  • University Hospital Heidelberg

    This Healthcare Provider was last updated 27 January 2022

  • Muscle ultrasound, a biomarker tool for muscular dystrophies

    Webinar 10/03/2022 at 16h Paris Time Delivered by Prof Nens van Alfen Nens van Alfen MD PhD is an associate professor of Neurology and clinical neurophysiologist from the Radboud university medical center (RUMC) in Nijmegen, The Netherlands. In 1997 sh …

    This Event was last updated 15 March 2022

  • Diseases Covered by EURO-NMD (Disease Groups) and cross-cutting Speciality Groups

    Although rare neuromuscular diseases (NMDs) include a broad group of diseases with overall prevalence of 1/3500-1/2500 that represent a major cause of mortality and morbidity in children and adults. Their rarity and diversity pose specific challenges f …

    This Page was last updated 7 March 2022

  • Andreas Ziegler

    Dr. Ziegler works as senior consultant at the center for childhood and adolescent medicine of the university hospital in Heidelberg and is specialised in neuromuscular disorders.

    This Contact was last updated 27 January 2022

  • Alessandro Introna

    Neurologist with expertise in motor neuron diseases.

    This Contact was last updated 20 January 2022

  • Eustachio DErrico

    Structured Doctor at University Neurology Unit Amaducci – AOU Policlinico Consorziale of Bari, Doctor at the Neurology Unit – “Ospedale Generale Regionale Miulli – of Acquaviva delle Fonti

    This Contact was last updated 20 January 2022

  • Giammarco Milella

    Neurologist with expertise in neuromuscular diseases and advanced neuroimaging techniques.

    This Contact was last updated 20 January 2022

  • Isabelle Simone

    Full Professor of Neurology, Department of Neuroscience and Sense Organs, University of Bari

    This Contact was last updated 19 January 2022

  • Azienda Ospedaliero Universitaria Policlinico Bari

    This Healthcare Provider was last updated 19 January 2022

  • Joerg Schulz

    Jörg B. Schulz is a professor of neurology and chair of the Department of Neurology, Uniklinik RWTH Aachen

    This Contact was last updated 18 January 2022

  • Welcome to our new members !

    The ERN Euro-NMD coordination team would like to welcome our new members. We hope our new relationship will be a successful one and we look forward to working with you all. It was great to see so many of you present  at the bi-annual ERN Euro-NMD Board …

    This Post was last updated 4 February 2022

  • Robert Brunkhorst

    Robert Brunkhorst is responsible for the clinical and research unit for patients with neuromuscular disorders at the department of neurology, University Hospital of the RWTH Aachen.

    This Contact was last updated 17 January 2022

  • Annelies Herman – EURO- NMD Project Assistant

    This Contact was last updated 17 January 2022

  • Elisabeth Avidi Muelle – EURO-NMD Communication Officer

    This Contact was last updated 17 January 2022

  • Carla D’Angelo – EURO-NMD Project Manager

    Carla has a PhD in Genetics and first worked as a postdoctoral researcher at the University of Sao Paulo in Brazil. She also holds a Master’s in Healthcare Management and Communication at the Sorbonne Business School in Paris. Before joining the Coordination Team of the ERN EURO-NMD, Carla spent 2 years working as Project Manager for the International Rare Diseases Research Consortium (IRDiRC) and the European Joint Programme on Rare Diseases (EJP RD).

    This Contact was last updated 3 February 2022

  • Annual Euro-NMD Board Meeting

    The European Reference Network for Rare Neuromuscular Diseases Euro-NMD welcomes you on January, 24th & 25th, 2022 to the  Annual Euro-NMD Meeting, held online at 15:00-18:15 CET. Here are the registration links below for the Board Meeting! Please …

    This Event was last updated 2 August 2022

  • Annual Euro-NMD Board Meeting : Jan 24th & 25th

    The European Reference Network for Rare Neuromuscular Diseases Euro-NMD welcomes you on January, 24th & 25th, 2022  to the Annual Euro-NMD Board Meeting, held online at 15:00-18:15 CET. We invite all Full Members and Affiliated Partners of ERN Euro …

    This Post was last updated 28 February 2022

  • Fabrizio Leigheb

    Assistant Medical Director of Medical/Healthcare Directorate of the University Hospital “Maggiore della Carità” of Novara and lecturer of Faculty and School of Medicine at University of East Pidemont (UPO)

    This Contact was last updated 14 January 2022

  • Heike Pascal – EURO-NMD Project Manager

    Heike graduated in 1989 with a Master’s degree in Linguistics and Latin Literature at the Johann Wolfgang Goethe Universität in Frankfurt, Germany. After leading the Marketing Department of Air France in Germany for many years, she moved to Paris in 1998, and started working in the Key Account departments of international Telecommunication and Insurance companies. Being a mum, she joined the Institute of Myology in 2011 as part-time assistant of the Medical and Scientific Director, Pr. Thomas Voit, where she discovered the field of Rare Diseases. She was thrilled to see patients, clinicians, researchers and engineers work hand in hand to push boundaries. In 2019, when Teresinha Evangelista brought the ERN Euro-NMD to Paris, she felt honored to become one of the Euro-NMD Project Managers together with Carla d’Angelo. Heike takes care of budget, planning and monitoring, reporting, mobility exchanges, bursaries, board meetings, congresses, and InterERN activities.

    This Contact was last updated 17 January 2022

  • Antonio Atalaia – EURO-NMD Clinical Advisor

    Antonio Marques Atalaia is a Neurologist since 1995, a Clinical Neurophysiologist since 1996 and a Sleep Medicine specialist (Somnologist ESRS), who studied and trained at Hospital Santa Maria/Faculdade de Medicina de Lisboa in Lisbon, Portugal. He had a 10 years Naval Doctor career in the Portuguese Navy and worked afterwards for the British Hospital in Lisbon and the CHCB in Covilhã, Portugal. In 2012 he transferred himself to the University of Newcastle upon Tyne as a Senior Research Associate at the Institute of Human Genetics (currently John Walton Muscular Dystrophy Research Center) and later had jobs as a NHS Neurology Consultant (Newcastle, Sunderland, Southend-on-Sea). He moved to Paris in April 2019 and initially worked as MRA for Solve-RD and currently works as Clinical Advisor for ERN Euro-NMD.

    This Contact was last updated 9 February 2022

  • John Vissing

    John Vissing is professor of Neurology at the University of Copenhagen and Director of the Copenhagen Neuromuscular Center at the National Hospital, Rigshospitalet, in Copenhagen

    This Contact was last updated 25 April 2022

  • Rigshospitalet, Neuromuscular Clinic and Research Unit

    This Healthcare Provider was last updated 25 April 2022

  • Maria Alice Soares Lopes

    Liaison Psychiatry Consultant at Multidisciplinary Adult Neuromuscular Clinics

    This Contact was last updated 10 January 2022

  • Andrea Mateus

    Internist at the Multidisciplinary Adult Neuromuscular Clinics

    This Contact was last updated 10 January 2022

  • Orla Hardiman

    Orla Hardiman is Professor of Neurology and is Head of the Academic Unit of Neurology at Trinity College Dublin and Consultant Neurologist at Beaumont Hospital

    This Contact was last updated 21 July 2022

  • RCSI Hospital Group, Beaumont Hospital

    This Healthcare Provider was last updated 21 July 2022

  • Ireland

    This Country and language was last updated 26 April 2022

  • Isabel Carvalho

    ORL at the multidisciplinar adult neuromuscular clínics

    This Contact was last updated 7 January 2022

  • Elga Rene Freire

    Internal Medicine Consultant, Intensive Care Medicine Subspecialist

    This Contact was last updated 7 January 2022

  • Uniklinik RWTH Aachen

    This Healthcare Provider was last updated 7 January 2022

  • Teresa Correia

    Psychiatrist of the Pediatric Neuromuscular Multidisciplinary Clinic

    This Contact was last updated 6 January 2022

  • Fatima Maria Machado Silva

    Master of Nursing, Member of the Ventilation Therapy Consultation Team for neuromuscular patients, Member of the Multidisciplinary Consultation Group meetings for neuromuscular patients.

    This Contact was last updated 6 January 2022

  • Ana Cavalheiro

    Nutritionist at the multidisciplinary adult neuromuscular clinics.

    This Contact was last updated 6 January 2022

  • João Neves

    This Contact was last updated 6 January 2022

  • Margarida Branco

    Clinical Psychologist

    This Contact was last updated 6 January 2022

  • Ana Martins da Silva

    Head of Neuroimmunology in Neurology Department

    This Contact was last updated 6 January 2022

  • Silvia Barrias

    Gastroenterologist of the Multidisciplinary Neuromuscular Unit

    This Contact was last updated 6 January 2022

  • Maria Lurdes Palhau

    Head of the Physical Medicine and Rehabilitation Service

    This Contact was last updated 6 January 2022

  • Andreia Rocha

    Physiotherapist CHU Porto

    This Contact was last updated 6 January 2022

  • Ana Rita Gonçalves

    Working in the field of Human Genetics since 2005 in the Molecular Genetics Unit of Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar e Universitário do Porto.

    This Contact was last updated 6 January 2022

  • Rosario Santos

    Laboratory Director of the Molecular Genetics Unit of the Centro de Genética Médica Dr. Jacinto Magalhães, CHUPorto, and an Integrated Investigator of the Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences, University of Porto (UMIB/ICBAS/UP).

    This Contact was last updated 6 January 2022

  • Miguel Pinto

    Neurologist and Neuropathologist CHU Porto

    This Contact was last updated 6 January 2022

  • EURORDIS PHOTO AWARD 2022

    The EURORDIS Photo Award is an opportunity to visually express what it means to live with a rare disease and to share your story with the rare disease community and beyond. The contest is open to all nationalities, ages, and diseases. Every year, hundr …

    This Event was last updated 5 January 2022

  • Filomena Baptista

    Social Worker

    This Contact was last updated 4 January 2022

  • Rosa Lima

    Member of Multidisciplinary Pediatric Neuromuscular Clinic

    This Contact was last updated 4 January 2022

  • Ricardo Taipa

    Director of the Neuropathology Unit and responsible for the Portuguese Brain Bank at Centro Hospitalar Universitário do Porto

    This Contact was last updated 4 January 2022

  • Lurdes Morais

    Pneumology and Ventilatory support of Multidisciplinary Pediatric Neuromuscular Clinic, Pediatric Consultant

    This Contact was last updated 4 January 2022

  • Rosa Amorim

    Physical Medicine and Rehabilitation Specialist, member of Multidisciplinary Pediatric Neuromuscular Clinic

    This Contact was last updated 4 January 2022

  • Silvia Alvares

    Head of the Department of Pediatric Cardiology CHUPorto

    This Contact was last updated 4 January 2022

  • Ana Paula Sousa

    Neurologist at the Multidisciplinary Adult Neuromuscular Clinics since 2016, Neurologist at the ATTRv Amyloidosis Clinic since 2018

    This Contact was last updated 4 January 2022

  • Ernestina Santos

    Neurologist at the Multidisciplinary Adult Neuromuscular Clinics (Myasthenic Syndromes) since 2018

    This Contact was last updated 3 February 2022

  • Marcio Neves Cardoso

    Neurologist and Clinical Neurophysiologist at the Multidisciplinary Adult Neuromuscular Clinics since 2011

    This Contact was last updated 7 January 2022

  • Teresa Coelho

    Senior Consultant Adult Neurologist and Neurophysiologist with a special interest in ATTR amyoloidosis neuropathies.

    This Contact was last updated 4 January 2022

  • Cristina Dominguez Gonzalez

    Dr. Domínguez-González leads a multidisciplinary clinical and research group at the Hospital 12 de Octubre in Madrid

    This Contact was last updated 4 January 2022

  • Vincent Laugel

    Pr Vincent Laugel is a pediatric neurologist specialized in neurogenetics.

    This Contact was last updated 6 January 2022

  • Cristina Garrido

    This Contact was last updated 4 January 2022

  • CHU Porto

    This Healthcare Provider was last updated 4 January 2022

  • Manuela Almeida Santos

    Consultant of Pediatric Neurology and Coordinator of the Neuromuscular Multidisciplinary Pediatric Team CHU Porto.

    This Contact was last updated 20 June 2022

  • Carlos Casasnovas

    Dr Casasnovas is the CSUR coordinator of Rare Neuromuscular Diseases and of the Network of Clinical Expertise Units in Neuromuscular Diseases of the Neurology Department at Bellvitge University Hospital (HUB), and from January 2022, coordinator of the local node of the European Reference Network (ERN) in Neuromuscular Diseases.

    This Contact was last updated 21 January 2022

  • ICNMD 2022

    17th INTERNATIONAL CONGRESS ON NEUROMUSCULAR DISEASES 5th-9th July 2022, Brussels, Belgium ICNMD is organising their 17th Congress focussing on  neuromuscular diseases to be held from 5th to 9th July 2022 in Brussels in Belgium. The aim of the ICNMD Co …

    This Event was last updated 31 December 2021

  • Jean Baptiste Chanson

    This Contact was last updated 6 January 2022

  • Letizia Mazzini

    I am a neurologist and a scientist in the field of ALS. I have over 3 decades of research experience focused in translational research for ALS. Currently I am the Director of the tertiary ALS Centre in Novara (Italy) which represents a national reference center for more than new 200 patients/year.

    This Contact was last updated 3 January 2022

  • Azienda Ospedaliero Universitaria “Maggiore della Caritá” di Novara

    This Healthcare Provider was last updated 3 January 2022

  • 7th International Myology Congress

    AFM-Telethon is pleased to announce that it will hold its 7th International Myology Congress in person, from September 12th to 15th, 2022 at the Nice Acropolis Congress Center, followed from September 15th to 17th by mitoNice, an international congress …

    This Event was last updated 20 December 2021

  • contact 16441

    This Contact was last updated 6 January 2022

  • University Hospital of Strasbourg – Neuromuscular Centre at Hautepierre Hospital

    This Healthcare Provider was last updated 6 January 2022

  • Aleksandra Nadaj Pakleza

    This Contact was last updated 6 January 2022

  • contact 16165

    This Contact was last updated 6 January 2022

  • CHU Bordeaux – University Hospitals of Bordeaux

    This Healthcare Provider was last updated 6 January 2022

  • Guilhem Solé

    Dr Guilhem Solé is the head of the referral center for neuromuscular disesases AOC, located in the University Hospitals of Bordeaux.

    This Contact was last updated 17 December 2021

  • Hospital Universitario 12 de Octubre

    This Healthcare Provider was last updated 3 January 2022

  • Feedback on the 3rd Neuromuscular Translational Summer School !

    The 3rd Neuromuscular Translational Summer School took place online from 6 to 10 December, 2021. The aim was to understand how to facilitate the clinical development of therapies for NMDs. The objectives of this Summer School were: – To educate clinici …

    This Post was last updated 17 December 2021

  • Hospital Universitari de Bellvitge

    This Healthcare Provider was last updated 3 January 2022

  • contact 15935

    This Contact was last updated 3 January 2022

  • ERN Euro-NMD Neuromuscular Imaging Cross-Cutting Specialist Group Meeting

    On behalf of Prof.  Pierre Carlier , we cordially invite you to participate in an Imaging Working Group Case Discussion session on Tuesday, April 12 at 5pm (CET) The Imaging Working Group regular meetings take place every 2 months. In these meetings, y …

    This Event was last updated 31 March 2022

  • World Muscle Society advice – Vaccines COVID-19

    COVID-19 and people with neuromuscular disorders : Updated 3rd December 2021 The WMS has provided advice for people with neuromuscular disorders, and their healthcare providers since the start of the COVID-19 pandemic. This is a document aiming to answ …

    This Post was last updated 14 December 2021

  • ASO RNA splice modulating therapies for genetic brain disorders

    Delivered by W.M.C. van Roon-Mom The speaker is a full professor of Human Genetics, in particular of translational studies of neurodegenerative disorders at the University of Leiden, the Netherlands.

    This Event was last updated 14 December 2021

  • Call for AFM-TELETHON Annual Research Grants is open !

    The French Muscular Dystrophy Association (AFM) funds research projects on neuromuscular genetic diseases (myopathies, Steinert’s myotonic dystrophy) mainly, but also on other rare genetic diseases. AFM-Téléthon supports the Proposals after review eith …

    This Post was last updated 28 February 2022

  • An introduction into mitochondrial diseases in adulthood

    Delivered by Prof. Cornelia Kornblum Cornelia Kornblum is Associate Professor of Neurology at the Department of Neurology, University Hospital of Bonn, Germany. She heads the Neuromuscular Diseases Section including a specialized clinical trial unit an …

    This Event was last updated 4 February 2022

  • Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a “Treatabolome”

    Delivered by Prof. Rita Horvath and Dr May Yung Tiet From their paper: “Leigh syndrome (LS) is the most frequent paediatric clinical presentation of mitochondrial disease. The clinical phenotype of LS is highly heterogeneous. Though historically the tr …

    This Event was last updated 2 March 2022

  • Primary Mitochondrial Myopathies

    Postponed to May 12, 2022 at 16:00 CET Delivered by Prof. Michelangelo Mancuso Prof. Michelangelo Mancuso is a specialist in Neurology. Graduated in Medicine in 1996, he specialized at the University of Pisa in 2000 and completed his training with spec …

    This Event was last updated 16 May 2022

  • Euro-NMD webinars : More to come !

    EURO-NMD webinars in association with ERN-RND and the European Academy of Neurology Our three entities have agreed to build a joint webinar programme where the partners would kick-start the thematics closer to their higher expertise. By selecting high- …

    This Post was last updated 13 December 2021

  • Endocrine cancer: A challenge in adults and children

    In the context of EJP RD’s ERN Workshops, a face-to-face workshop on “Endocrine cancer: A challenge in adults and children” aimed at giving an update on the molecular background and clinical management of rare endocrine malignancies is being organised …

    This Event was last updated 9 December 2021

  • Hybrid Workshop : “contemporary outcome measures in neuromuscular diseases”

    In the context of EJP RD’s ERN Workshops, a hybrid workshop on “contemporary outcome measures in neuromuscular diseases” aimed at understanding the advancement of technologies with digital outcome measures in neuromuscular diseases is being organised b …

    This Event was last updated 9 December 2021

  • 8th Congress of the European Academy of Neurology – Europe 2022

    The 8th EAN Congress is an European meeting that brings together neurologists and neuroscientists with the aim of networking and exchanging knowledge to address the biggest challenges in neurology. They have planned a meeting with a pan-European flavor …

    This Event was last updated 9 December 2021

  • Health technology designed for children with children

    “Versatility is key to the development of health technology for children and young people so that it is adaptive to their social, physical and developmental needs. Even the best health technologies and medical devices fail simply because they are dismi …

    This Event was last updated 9 December 2021

  • New MDS criteria for clinical diagnosis of MSA

    Delivered by Gregor Wenning and Iva Stankovic – 15 February 2022, 3-4pm CET This webinar will have two parts, one on ‘MDS criteria for diagnosis of MSA’ to be presented by Gregor Wenning who is Professor and Head of the Division of Clinical Neurobiolog …

    This Event was last updated 7 December 2021

  • The overlap between the spectrum of frontotemporal dementias and atypical Parkinsonism

    Delivered by Vasilios Constantinides – 8 February 2022, 3-4pm CET The speaker is a Neurologist at te National and Kapodistrian University of Athens, Greece.

    This Event was last updated 7 December 2021

  • Learning by example: HD-JUNIOR a national registry for patients with juvenile onset Huntington’s Disease

    Delivered by Hannah Bakels – 1 February 2022, 3-4pm CET The speaker works as a research physician and PhD-candidate at the Neurology and Human Genetics department of the Leiden University Medical Center.

    This Event was last updated 6 December 2021

  • Anti-spastic therapies in Hereditary Spastic Paraplegia

    Delivered by Marcondes C. França Jr, 11 January 2022, 3-4pm CET The speaker is Neurologist at the Department of Neurology and Associate Professor at the School of Medical Sciences, University Campinas (UNICAMP), Brasil.

    This Event was last updated 14 December 2021

  • Pseudonymisation and Anonymisation

    This workshop will be the first of the ERN data strategy workshop series. During this first workshop, we will discuss the techniques and algorithms to anonymise and pseudonymise healthcare data from patients with rare diseases. A special focus will be …

    This Event was last updated 6 December 2021

  • 4th Neuromuscular Translational School

    The Neuromuscular Translational School organized by EURO-NMD and TREAT-NMD focuses on therapy development from bench to bedside with a focus on neuromuscular disorders. The Translational School contains lectures about the current state of the art of ac …

    This Event was last updated 27 July 2022

  • COVID-19 and Neuromuscular Patients

    Updated 3rd December 2021 The WMS has provided advice for people with neuromuscular disorders, and their healthcare providers since the start of the COVID-19 pandemic. This is a document aiming to answer questions regarding vaccines and vaccination aga …

    This Post was last updated 12 January 2022

  • Childhood onset Charcot-Marie-Tooth disease 

    Delivered by Isabella Moroni Isabella Moroni earned her MD and specialization in Neurology at the University of Milan, then she moved to the Fondazione IRCCS Istituto Neurologico Carlo Besta, working in Child Neurology –  Department of  Pediatric Neuro …

    This Event was last updated 10 February 2022

  • Czech and Slovak Neuromuscular Congress 2022

    Annual joint meeting of the Czech and Slovak Neuromuscular Society. Language: Czech, Slovak, and English.    

    This Event was last updated 2 December 2021

  • Institute de Myologie

    This Organisation was last updated 1 December 2021

  • Philippe Couratier

    This Contact was last updated 30 November 2021

  • Annemieke Aartsma Rus

    Prof. Dr. Annemieke Aartsma-Rus played an important role in the development of the antisense mediated exon skipping therapy for Duchenne muscular dystrophy during her PhD research (2000-2004) at the Leiden University Medical Center, Department of Human Genetics (the Netherlands). Since September 2004 she continued this research as a post doc. As of December 2007 she became leader of the “DMD exon skip group” first, as assistant professor and currently full professor at the Department of Human Genetics. Since 2013 she has a visiting professorship at the Institute of Genetic Medicine of Newcastle University (UK).

    This Contact was last updated 22 November 2021

  • Joint Transnational Call 2022

    The European Joint Programme on Rare Diseases just pre-announced the Joint Transnational Call 2022, a funding opportunity for research projects on the development of new analytic tools and pathways to accelerate diagnosis and facilitate diagnostic moni …

    This Post was last updated 22 November 2021

  • ERICA WP5-Translation and Innovation

    This work program covers the translational and innovative aspects of clinical research and hence will liaise with biotech and pharma to promote the potential of ERNs for the conduct of clinical trials in the rare disease field. This WP aims to support …

    This Post was last updated 22 November 2021

  • Meet Professor Michelangelo Mancuso !

    1. Tell us a little bit about yourself Soon after my residency programme in Pisa (Italy) (2000) I had the privilege to work for three years at Dr. DiMauro’s Lab at Columbia University, NY, dealing with mitochondrial diseases and neurogenetics. Since th …

    This Post was last updated 22 November 2021

  • Michelangelo Mancuso

    This Contact was last updated 22 November 2021

  • Publication Search

    Please find below a list of publications which we think might be of interest to our network and the wider community. Currently, this is not a comprehensive list and we will be updating it on a regular basis. How to reference our network in your publica …

    This Page was last updated 17 November 2021

  • ERN-RND Webinar : Deep brain stimulation in children with acquired dystonia

    Delivered by Anne Koy, 7 December 2021, 3-4pm CET The speaker is neuropeadiatrician and head of the Centre for Dystonic Movement Disorders in Children and Associate Professor at the University Hospital Cologne, Germany.

    This Event was last updated 9 November 2021

  • ERN-RND Webinar : Pure autonomic failure: really that pure?

    Delivered by Alessandra Fanciulli, 23 November 2021, 3-4pm CET Dr Fanciulli is deputy director of the Dysautonomia Center at the Innsbruck Medical University and co-chair of the Scientific Panel for Autonomic Nervous System Disorders of the European Ac …

    This Event was last updated 9 November 2021

  • ERN-RND Webinar : Clinical Outcome Assessments in Ataxias

    Delivered by Thomas Klockgether on November 9th The speaker is a Professor in Neurology and Director of the Clinic and Polyclinic for Neurology at the University Hospital Bonn and Director of Clinical Research at the DZNE, Bonn, Germany.

    This Event was last updated 9 November 2021

  • Euro-NMD awarded new CEF funding

    Euro-NMD successfully applied for the 2020 CEF (Connecting Europe Facility) Telecom eHealth Call, a flagship-funding programme of the Europe 2020 Strategy in the sectors of transport, energy and telecommunications. This new CEF grant, which has started …

    This Post was last updated 28 October 2021

  • 3rd Annual Spinal Muscular Atrophy Continuing Medical Education Conference on Clinical Decision-Making in the Midst of an Unfolding Phenotype

    Stanford continuing medical education and training contribute for the enhancement of knowledge and understanding of healthcare providers including physicians, specialists, physical, occupational, and speech language pathologist and nurses, outside spec …

    This Event was last updated 28 October 2021

  • MOOC on Translation research and Rare Diseases

    Euro-NMD is co-developing together with EATRIS (The European Infrastructure for translational medicine) a Massive Open Online Course (MOOC) on Translational Research, which is part of a series of five. MOOCs on transversal and multidisciplinary aspects …

    This Post was last updated 28 October 2021

  • ERN-transversal Working Group on Pregnancy and Family Planning

    The ERN-transversal Working Group on Pregnancy and Family Planning in rare and complex diseases is currently organising an ERN-wide survey. The purpose of this survey is to recognize the issues and good practices related to pregnancy and family plannin …

    This Post was last updated 28 October 2021

  • Joint initiative between ERNs Euro-NMD, RND and Epicare

    The coming year will mark the end of the first five years of functioning of the European Reference Networks (ERNs). However, there are good reasons to think that the ERNs will continue to exist after this first five tears period. Euro-NMD together with …

    This Post was last updated 28 October 2021

  • 2021 Fall/Winter Grant Applications – FSHD SOCIETY

    The FSHD Society offers investigator-initiated research grants to support basic, translational and clinical-based research in facioscapulohumeral muscular dystrophy (FSHD). The application process begins with the submission of a brief Letter of Intent …

    This Post was last updated 26 October 2021

  • Applications open for Duchenne Patient Academy 2021

    The Duchenne Data Foundation, in collaboration with the World Duchenne Organization, is launching the 2021 edition of the Duchenne Patient Academy (DPA). In this intensive training session, patient advocates receive training and updates to build a stro …

    This Event was last updated 28 October 2021

  • Muscle & Statins

    Delivered by Kristl Claeys, University Hospitals Leuven, Belgium The webinar on “Muscle and Statins” on Thursday November 18th 2021 will cover the wide range of potential muscular complications caused by statins. Diagnosis and treatment will be discuss …

    This Event was last updated 22 November 2021

  • Pelizaeus-Merzbacher disease and related disorders

    Delivered by Nicole Wolf on 26th october 3-4pm CEST The speaker is a consultant child neurologist and associate professor at the Emma Children’s Hospital, Amsterdam University Medical Centres, the Netherlands. She is an expert in white matter disorders …

    This Event was last updated 22 October 2021

  • Rare Diseases’ therapies integration in diagnostic support tools through the Treatabolome platform

    Presented by : – Gisele Bonne, Sorbonne University – INSERM – Institut of Myology, Paris, France – Carles Hernandez-Ferrer, CNAG -CRG, Barcelona, Spain – Katja Lohmann, Institute of Neurogenetics, Lübeck University, Lübeck, Germany Treatabolome is a da …

    This Event was last updated 25 October 2021

  • Current list of upcoming Euro-NMD Webinars

    EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field, in collaboration with the European Reference Network for Rare Neurological Disorders (ERN-RND) and …

    This Post was last updated 13 July 2022

  • Educational Webinar 1 – Current research services available for the rare diseases community

    Delivered by Anton Ussi on Monday 8th November 2021, 15.00 – 16.00 h CET Anton Ussi from EATRIS will introduce the cutting edge resources and research services provided by the European Life Science Research Infrastructures (LS RIs) in the field of rare …

    This Event was last updated 8 October 2021

  • Oligonucleotide therapies: a new class of drugs that allow precise genetic targeting

    Delivered by Annemieke Aartsma-Rus on 19th october 3-4pm CEST The speaker is Professor of Translational Genetics at the Department of Human Genetics at the Leiden University Medical Center in the Netherlands. She has an interest on the development of a …

    This Event was last updated 5 October 2021

  • Functional gait disorders: a sign-based approach

    Delivered by Jorik Nonnekes on 12th october 3-4pm CEST The speaker is consultant physiatrist and researcher at the Radboud University Medical Centre (Radboudumc), Department of Rehabilitation, Nijmegen, the Netherlands. His clinical and scientific focu …

    This Event was last updated 5 October 2021

  • X-linked adrenoleukodystrophies – Update (paediatric focus)

    Delivered by Caroline Sevin on 7th october 3-4pm CEST The speaker is Child Neurologist and researcher at the Hospital Bicêtre and the Institute of Brain and Spine in Paris, France. Her clinical and research focus are amongst others on: X-linked adrenol …

    This Event was last updated 5 October 2021

  • Adult leukodystrophies – early symptoms of late-onset leukodystrophies

    The speaker is an associate professor of genetics at the University Pierre and Marie Curie (UPMC), Paris, France. Dr Mochel leads the French reference center on Neurometabolic diseases in adults and runs a Neurometabolic research group at the Brain and …

    This Event was last updated 4 October 2021

  • LGMD Awareness Day – 30th September 2021

    Limb-Girdle Muscular Dystrophy (LGMD) Awareness Day is intended to be an annual collaborative effort to globally raise awareness of individuals living with limb-girdle muscular dystrophy. The seventh annual “Limb-Girdle Muscular Dystrophy Awareness Day …

    This Post was last updated 1 October 2021

  • 14th European Paediatric Neurology Society Congress 2022

    The 2022 European Paediatric Neurology Society Congress will be dedicated to “Precision in Child Neurology” in Glasgow, UK from the 28th April to the 2nd May 2022. The EPNS Congress provides an opportunity to learn about the latest developments in the …

    This Event was last updated 24 September 2021

  • 2022 TREAT-NMD Conference – POSTPONED

    The TREAT-NMD Alliance are organising our 7th international conference focussing on translational medicine in inherited neuromuscular diseases to be held from 7th-9th December 2022 in Vancouver in Canada. The aim of this international conference will b …

    This Event was last updated 3 March 2022

  • New article on Journal of Neuromuscular Diseases about patient-led FAIR Data Efforts to facilitate Research and Health Care

    The World Duchenne Organization and Duchenne Data Foundation have published their latest Research Article on the Journal of Neuromuscular Diseases and titled : “How Patient Organizations Can Drive FAIR Data Efforts to facilitate Research and Health Car …

    This Post was last updated 27 September 2021

  • MYO-MRI Imaging in Neuromuscular Disease Conference 2021

    The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in key aspects of muscle imaging. The programme will feature the following: Introduction to Muscle MRI: Mapping Disease Activity; Qua …

    This Event was last updated 2 August 2022

  • NGS results and CNV detection in Czech patients with neuromuscular disease

    September 2021 Thu Sep 30 – 16:00-17:00 Paris time NGS results and CNV detection in Czech patients with neuromuscular disease (Jana Zídková (University Hospital Brno, Centre of Molecular Biology and Genetics, Czech Republic)) Jana Zídková works as a mo …

    This Event was last updated 4 October 2021

  • Italian Mitochondrial Disease Conference 2021

    The 10th Italian Meeting on Mitochondrial Disease ,  October 15th and 16th 2021 (entirely in English) This virtual event will bring together physicians, researchers, stakeholders, and patients. A unique opportunity to discuss and update on current unde …

    This Event was last updated 7 October 2021

  • “Pluripotent stem cells for rare disease research: banking, data, application”: an EJPRD training course

    As part of the training activities proposed by the EJP RD, a 3-day training course titled “Pluripotent stem cells for rare disease research: banking, data, application” is being organised by Fraunhofer Institute for Biomedical Engineering and Fondazion …

    This Event was last updated 2 August 2022

  • ERN-RND for Rare Neurological Diseases July 2021 Newsletter

    In ERN-RND July newsletter read about: ERN-RND Annual Meeting took place online on 30 June and 1 July with more than fifty participants from across Europe. ERN-RND centres and ePAGs introduction videos Upcoming joint webinars by ERN-RND, EURO-NMD, EAN …

    This Post was last updated 20 August 2021

  • Treat-NMD July 2021 Newsletter

    The TREAT-NMD Alliance are organising the 7th international conference focussing on translational medicine in inherited neuromuscular diseases to be held from 15th to 17th June 2022 in Vancouver in Canada. The website dedicated to the 2022 conference w …

    This Post was last updated 20 August 2021

  • Training needs in rare neuromuscular diseases in Europe: an EURO-NMD Survey.

    EURO-NMD is running a survey to map the training needs in rare neuromuscular diseases in Europe for planning new educational activities that are better tailored to its users and their needs. As of today, about 160 respondents (61% females) from 27 coun …

    This Post was last updated 18 August 2021

  • First CPMS Grand Round: access on demand to the recording on CPMS

    The First CPMS Grand Round was a success according to the feedback that we have received and that we will post on this site very soon. In the meantime we want to explain how to access the recorded video from the Grand Round. As these are sessions that …

    This Post was last updated 17 August 2021

  • Palliative care in Neuromuscular Disorders

    Delivered by Profs Tracey Willis and Derek Willis     Biosketch of Prof Tracey Willis I am a dedicated paediatric neurologist with a special interest in neuromuscular diseases, both Paediatrics and Adults. I did my tertiary neurology training in t …

    This Event was last updated 20 December 2021

  • Results of Survey: COVID19 Hospital Feedback

    One year ago, the EURO-NMD has launched a survey for Hospitals to feedback the situation regarding COVID-19 and the Neuromuscular patients. We received 24 Surveys that were complete and accurate. from different countries: Italy (9), Netherlands (3), Sp …

    This Post was last updated 28 July 2021

  • CPMS Grand Rounds: the first one will be on Friday 6th August 4PM-5PM Paris time

    The Grand Rounds will be bi- monthly 1-hour online clinical discussion sessions of undiagnosed/complex/unusual presentations evaluated by EURO-NMD members and affiliated partners. The aim is  to facilitate the use and stimulate clinical discussions thr …

    This Post was last updated 9 August 2021

  • Feedback for 2022 webinars

    The following graphs reflect the totality of answers according to people’s grading of their satisfaction with the different aspects of the EURO-NMD webinars of 2022.   January 2022 Thu Jan 27 – 16:00-17:00 Paris time Childhood onset Charcot-Marie- …

    This Post was last updated 13 July 2022

  • Genetic forms of Parkinson’s disease

    Sep 14, 2021 03:00 PM in Amsterdam, Berlin, Rome, Stockholm, Vienna The speaker is Full Professor of Neurology at the University Tübingen and Director of the Department ‘Neurodegenerative Diseases’ at the Hertie Institute for Clinical Brain Research in …

    This Event was last updated 26 July 2021

  • Overview of current state of the art of NMD management

    Jul 22, 2021 04:00 PM in Paris delivered by J. Andoni URTIZBEREA J. Andoni URTIZBEREA, (MD, MSc), aged 62, is a French physician trained in Paris University (1983-1987) and certified both in paediatrics and PMR (physical medicine and rehabilitation). A …

    This Event was last updated 23 July 2021

  • Institute of Myologie Newsletter #86

    The most recent newsletter from the Institute of Myologie is available. Among many other themes it talks about the success of AcadeMYo, the virtual release of the institute’s Myology Summer School 2021 with the partnership of EURO-NMD. The arrival of P …

    This Post was last updated 21 July 2021

  • July 2021 Newsletter ERN Exchange Programme 2021-2022

    “The ERN Exchange Programme was designed to share knowledge and stimulate collaboration between healthcare professionals in the European Reference Networks (ERNs). In this newsletter, we will give you an update on where we stand and provide information …

    This Post was last updated 21 July 2021

  • Orphanet July 2021 Newsletter “Orphanews”

    This month’s Orphanews has an editorial about “Building a better future for rare diseases: campaigns launched at European and international level”. It also announces that the ORPHAcodes: Orphanet Nomenclature Pack 2021 is now available and has news abo …

    This Post was last updated 21 July 2021

  • ERN-RND for Rare Neurological Diseases July 2021 newsletter

    The ERN-RND July 2021 newsletter talks about the ERN-RND Annual Meeting, contains information about, webinars, courses and includes ERN-RND centres and ePAGs introduction videos and other themes of interest.  

    This Post was last updated 21 July 2021

  • Fulcrum Therapeutics Announces Results from ReDUX4 Trial with Losmapimod in Facioscapulohumeral Muscular Dystrophy (FSHD) Demonstrating Slowed Disease Progression and Improved Function

    Although the main outcome measure of the trial was not met (“Changes in DUX4-driven gene expression, which were included in the trial as an experimental biomarker endpoint, could not be demonstrated”), there are positive conclusions to draw from the tr …

    This Post was last updated 21 July 2021

  • FSHD European Trial Network (FSHD ETN) Newsletter – July 2021

    The July 2021 newsletter of FSHD European Trial Network is now available. Click the link to read it. Other resources that may interest you: PPT presentation of the network

    This Post was last updated 20 September 2021

  • Summer School Webinar: Biomarkers

    THIS WEBINAR WILL NOT TAKE PLACE ON THIS DATE; IT WILL BE RESCHEDULLED, SORRY   Pietro Spitali is currently an assistant professor at the Human Genetics Department of the Leiden University Medical Center. He has worked in the field of muscular dys …

    This Event was last updated 15 July 2021

  • Validation of MRI as a biomarker in clinical trials

    Delivered by Dr. Hermien Kan Dr. Hermien E. Kan is staff member of the C.J. Gorter Center for high field MRI at the Leiden Universtiy Medical Center, where her main focus is on quantitiatve MR muscle and brain in Duchenne and Becker muscular dystrophy …

    This Event was last updated 9 July 2021

  • EURO-NMD Bursaries – 2nd round open from September 1st to November 30th, 2021

    To ensure equity of care for patients with rare neuromuscular diseases across Europe, the ERN EURO-NMD is strongly committed to boost continuous Training and Education Programmes. Our bursary scheme is open to young researchers/clinicians under the age …

    This Page was last updated 28 October 2021

  • Introduction to Clinical Trials

    Summer School Webinar in collaboration with Treat-NMD This webinar will cover the features of Clinical Trials, in particular the ones for Rare Diseases. Setting up Clinical Trials to populations with specific diseases of low prevalence is a skill of th …

    This Event was last updated 5 July 2021

  • June 2021 EJPRD Newsletter

    Themes of the EJPRD June 2021 Newsletter: Resource Finder Demonstration Resource Webinar: Human Pluripotent Stem Cell Registry (hPSCreg): 21st June 2021 ERN Workshop: Clinical Epidemiological Research—The Basics and Beyond: registration deadline 18th J …

    This Post was last updated 15 June 2021

  • The website of the International Myositis Society: imyos.org

    The International Myositis Society (iMyoS) has been established in 2019. The main goal of the Society are: Support the development and harmonization of diagnostic criteria & standards of care for myositis and help to implement those in all other in …

    This Post was last updated 22 June 2021

  • Clinical Research with databases: The Basics & Beyond Workshop in clinical epidemiological research for ERNs

    Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare disease, large, collaborative, international datasets and registries are currently being erected for multiple dis …

    This Event was last updated 15 June 2021

  • ENMC Themed Workshops: “Post-Covid-19: Issues and opportunities for the neuromuscular field!”

    ENMC has started a new initiative of “Themed Workshops”. Due to the fact that we are facing a new period after Covid-19 and because of the urgency to learn from this pandemic, the ENMC proposes this year the following theme: “Post-Covid-19 issues and o …

    This Post was last updated 15 June 2021

  • Speech as a biomarker in ataxia:What can it tell us andhow should we use it?

    Webinar delivered by Adam Vogel 6th July 3PM Paris Educational webinars on rare neurological, neuromuscular and movement disorders jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases …

    This Event was last updated 17 September 2021

  • ‘Update Metachromatic Leukodystrophy’​

    ‘Update Metachromatic Leukodystrophy’​ is a joint webinar organized by ERN-Rare Neurological Diseases with the European Academy of Neurology and the ERN Euro-NMD for rare neuromuscular disorders. Samuel Gröschel is Senior Child Neurologist, at the Depa …

    This Event was last updated 14 June 2021

  • New Limb-Girdle Muscular Dystrophies Classification

    This WEBINAR discusses the new classification of LGMDs and maps the current classification to the previous one, explaining the rationale of the updates that were done. It includes therefore a ample discussion of disease causes, mechanisms and ontologie …

    This Event was last updated 28 June 2021

  • The Basics & Beyond Workshop in clinical epidemiological research for ERNs

    Research on rare conditions can be a great challenge, both practical and methodological. To counteract small study populations with a rare disease, large, collaborative, international datasets and registries are currently being erected for multiple dis …

    This Event was last updated 8 June 2021

  • Job offer for Webmaster and Community Manager for Euro-NMD

    WEBMASTER & COMMUNITY MANAGER (M/F) Background information: European Reference Networks (ERNs); aiming to facilitate discussion on complex or rare diseases and conditions; are virtual networks involving healthcare providers from across Europe. EURO …

    This Post was last updated 17 June 2021

  • Addressing disease heterogeneity in myotonic dystrophy. Towards personalized intervention.

    Delivered by Alain Geille, (president Euro-DyMA), Peter-Bram ‘t Hoen and Baziel van Engelen Jun 10, 2021 16:00 Paris time   This seminar will focus on the development of individualized interventions in myotonic dystrophy that take into account the …

    This Event was last updated 15 June 2021

  • MRI pattern recognition in leukodystrophies

    Delivered by: Nicole Wolf (Emma Children’s Hospital, Amsterdam University Medical Centre, the Netherlands) On the: 8 June 2021, 3-4pm CET The speaker is consultant child neurologist and associate professor at the Emma Children’s Hospital, Amsterdam Uni …

    This Event was last updated 3 June 2021

  • Online Work Group and Board Meetings Monday May 31st – Friday 4th June 2021

     AGENDA European Reference Network for Rare Neuromuscular Diseases Online Work Group and Board Meetings Monday May 31st – Friday 4th June 2021 Please register before Thursday, May 27th   We invite all full members and Affiliated Partners of ERN Euro-NM …

    This Post was last updated 3 June 2021

  • Euro-NMD Board Members Meeting 4th June 2021 – programme and working groups

    Dear members of the Board, Affiliated Partners, Executive Committee and Patient Advisory Board, You are all very welcome, on Friday June 4th, 2021, online, for the first semi-annual Board members meeting in 2021. The registration is now open, please us …

    This Post was last updated 6 June 2021

  • FSHD European Trial Network

    EURO-NMD is pleased to announce the establishment of the “FSHD European Trial Network”. Nicol Voermans as chair and Pascal Laforet as vice chair; George Padberg and Baziel van Engelen as advisors coordinate this project, initiated by FSHD Europe. …

    This Post was last updated 20 September 2021

  • ProDGNE Kick-off Webinar 3rd June 2021, 6pm CET

    GNE Myopathy is a rare genetic (autosomal recessive) disorder that causes progressive skeletal muscle atrophy and weakness. Previous names include hereditary inclusion body myopathy (HIBM), inclusion body myopathy type 2 (IBM2) or Nonaka myopathy. GNE …

    This Event was last updated 25 May 2021

  • Treatabolome – special issue of the JND

    The “Treatabolome”, a new concept emerging from a European Project addressing unsolved rare diseases (Solve-RD, www.solve-rd.eu), is meant to bring awareness for rare diseases treatments by building a platform that list gene and variant-specific treatm …

    This Post was last updated 25 May 2021

  • July’s Summer School Webinar Series

    The Euro-NMD webinar series of July will be devoted to some of the lectures given during the 2021 translational summer school and involving a remarkable list of experts. Our programme includes: July 2021 Thu Jul 1 – 16:00-17:00 CET Summer School Webina …

    This Post was last updated 21 June 2021

  • AcadeMYO

    AcadeMYO is the digital version of the renowned Summer School of Myology that has been running yearly at the Institute of Myology (Paris, France), since 1998. The course is made of forty pre-recorded lectures accessible on demand and three half-day int …

    This Post was last updated 9 August 2021

  • EAN/PNS Guideline on diagnosis and treatment of chronic inflammatory demyelinating polyradiculoneuropathy – open for members comment

    In order to ensure high quality of European Academy of Neurology guidelines, EAN’s Guideline Production Group publishes draft guidelines on the EAN website for 15-days member comment period. The purpose of making the guideline available to EAN members …

    This Event was last updated 25 May 2021

  • WHAT’S NEW IN FSHD?

    This webinar is about what is new in FSHD. The field of FSHD is rapidly evolving. The clinical and genetic variability of this disease become more undestandable together with FSHD pathophysiological mechanism. The development of new therapies for this …

    This Event was last updated 10 June 2021

  • Newsletter

    This Page was last updated 7 June 2022

  • Survey on education needs in rare Neuromuscular Diseases

    The European Reference Network (ERN) on Rare Neuromuscular Diseases (EURO-NMD) is aiming at remodelling its training offers and wants to hear from the community it serves. ERNs are continuously working to improve the training and educational offers imp …

    This Post was last updated 26 April 2021

  • Research study on neuromuscular diseases: interactive session with families.

    Share4 Rare is organizing a webinar for families who want to join the Share4Rare research pilot. This research project focuses on how being an / caring for a person with NMD affects learning & work opportunities. Dr. Michela Guglieri will be there, pre …

    This Event was last updated 19 April 2021

  • The Institute of Myology is recruiting a Clinical Research Physician

    THE INSTITUTE OF MYOLOGY Located in Paris in the heart of the largest European hospital, the Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. Its objective is to promote the recognition and deve …

    This Post was last updated 26 April 2021

  • MR Biomarkers in Spinocerebellar Ataxias

    Next European Reference Network for Rare Neurological Diseases joint webinar with Euro-NMD ERN for rare neuromuscular diseases and the European Academy of Neurology is entitled: MR Biomarkers in Spinocerebellar Ataxias. It takes place on the 13th April …

    This Event was last updated 17 September 2021

  • MUSCLE AND AGEING

    This Euro-NMD webinar, organised in collaboration with ERN-RND Rare Neurological Disorders and the European Academy of Neurology, is about Muscle and Ageing. It is delivered by Gillian Buttler-Brown who has a special interest and extensive research wor …

    This Event was last updated 25 May 2021

  • Muscle Atlas: introduction of a new resource

    The Muscle Atlas is the first muscle image database to accelerate research, diagnosis and therapeutic approaches. It is based on the infrastructure of AIM/AFM in Paris and was conceived by Bruno Cadot, a researcher from the Myology Center for Research, …

    This Post was last updated 26 April 2021

  • 2021 VCP Scientific Conference Sep 9, 7:00PM to Sep 11, 12:15AM CEST

    The VCP Scientific Conference is an international meeting that will take place virtually on September 9-10, 2021. This conference will be the first VCP focused meeting since the ENMC meeting in 2015. With the continuing public health challenges of the …

    This Event was last updated 26 March 2021

  • Setting up a FAIR registry for Euro-NMD

    Watch this video-presentation by Peter-Bram van ‘t Hoen, where he shares his first experiences and plans for setting up an European Reference Network (ERN) for neuromuscular disorders. It includes useful explanations about concepts such as FAIR data an …

    This Event was last updated 25 March 2021

  • European Conference on the Diffusion of Genomic Medicine: Health Economics & Policy 26 – 28 May 2021 -registration open

    As part of Solve-RD, Solving the unsolved rare diseases, a European project H2020 (http://solve-rd.eu/) on genetic research, the Health Economics Team of the Economics Laboratory of Dijon (University of Burgundy) organises the “European Conference on t …

    This Event was last updated 26 May 2021

  • Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity

    23MAR 2021 15:00-16:00 CET Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity’​ by Harro Seelaar The speaker is Neurologist and Postdoctoral researcher in the Department of Neurology at the University Medical Center …

    This Event was last updated 17 September 2021

  • MODELING DISEASE PROGRESSION IN GNE MYOPATHY

    Delivered by: Melanie Quintana Description: We describe a Bayesian repeated measures model based on quantitative muscle strength data from a prospective Natural History Study at the NIH that was developed to determine disease progression and design cli …

    This Event was last updated 4 April 2021

  • Myoclonus dystonia

    Next ERN-RND joint webinar with Euro-NMD and European Academy of Neurology 9 March, 15-16h CET Speaking Belén Pérez Dueñas Of Vall d’Hebron University Hospital, Barcelona, Spain Chaired by Marina de Koning-Tijsse, University Medical Centre Groningen, t …

    This Event was last updated 8 March 2021

  • The semestral Euro-NMD Registry Hub March 2021 newsletter is out

    Progress has been made with the EURO-NMD Registry Hub project, as the team is working on the FAIRification of the registry. This means that it should be possible for health records written in different languages, formats and stored in different registr …

    This Post was last updated 2 April 2021

  • Rare Diseases Day 2021

    Rare Disease Day 2021 will take place on Sunday 28th February and around the world many awareness raising events have been organised. EURO-NMD would like to wish the Rare Diseases community all the very best, and a very successful and enjoyable day . Y …

    This Post was last updated 2 March 2021

  • TELEMEDICINE IN NMD: STATE OF THE ART

    Telemedicine in NMD: state of the art Delivered by: Sabrina Sacconi and Gabriele Siciliano Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases. Pr. SACCONI starts to pract …

    This Event was last updated 12 March 2021

  • ERN Euro-NMD Expert Group for Guidelines Development

    The European Commission has started a Project that involves Euro-NMD for developing Guidelines for Neuromuscular Conditions. The purpose is to support the creation of two new guidelines and the update of five existing ones. A consortium of Spanish Acad …

    This Post was last updated 23 February 2021

  • EURORDIS Black Pearl Awards

    Recognising the outstanding achievements and exceptional work of people making a difference for the rare disease community. The 10th edition of the EURORDIS Black Pearl Awards will take place fully online on 24th February 2021, from 17:00 CET. You will …

    This Event was last updated 22 February 2021

  • Rare Diseases Day 2021

    Rare Disease Day 2021 will take place on Sunday 28th February and around the world many awareness raising events have been organised. We would like to wish everyone involved all the very best, we hope you have a very successful and enjoyable day. You a …

    This Event was last updated 22 February 2021

  • CPMS new features webinar for ERN Euro-NMD Members/HCPs

    Dear ERN Members The EU Commission has organized a webinar on the new features of Clinical Patient Management Ssystem that will be of interest to all clinicians and panel managers dealing with CPMS. As promised, the software has been improved and the n …

    This Event was last updated 22 February 2021

  • World Duchenne Organization, together with the Duchenne Data Foundation, started their Duchenne Emergency & Capacity Building Program

    The Duchenne Emergency & Capacity Building Program was set up by the World Duchenne Organization and Duchenne Data Foundation. It aims to support local communities through strategic global capacity building. It was first put into action to deliver …

    This Post was last updated 22 February 2021

  • IRDiRC announcement of two new Task Forces

    The International Rare Diseases Research Consortium (IRDiRC) has announced the opening of two new Task Forces: “Shared Molecular Etiologies Underlying Multiple Rare Diseases” aiming to address and document the existing challenges in adapting the basket …

    This Post was last updated 22 February 2021

  • Rare Disease Natural History Studies: Experience from the GNAO1 Natural History study in a pre and postpandemic world

    Date: 9 February 2021, 3-4pm CET Speaker: Amy R. Viehoever, Washington University, Saint Louis, USA Venue: Zoom (online) You can sign up here. More information about ERN-RND webinars in collaboration with EURO-NMD and the European Academy of Neurology …

    This Event was last updated 17 September 2021

  • EJP-RD project’s 3rd Call for Research Training Workshops is now open

    The EJP-RD project’s 3rd Call for Research Training Workshops is now open (27. January-7. March 2021). Applicants from ERN Full Members or Affiliated Partners can submit Workshop Topics on rare diseases research to obtain funds (25.000€) in order to co …

    This Post was last updated 29 January 2021

  • OCCURRENCE OF BOTH SKELETAL MUSCLE AND PERIPHERAL NERVE INVOLVEMENT IN GENETIC AND ACQUIRED DISORDERS

    By Prof Antonio Toscano, Neurologist and Neuromuscular Expert, Dean of the Medical Faculty of the University of Messina, IT Prof. Toscano scientific activity has been mainly developed in neurogenetic diseases with specific reference to neuromuscular an …

    This Event was last updated 9 March 2021

  • Applications open for the ENMC Mid-Career Mentoring Programme

    ENMC has developed a new Mentoring Programme. The ENMC Mid-Career Mentoring Programme has been developed for people who wish to seek mentoring in order to become independent researchers and/or potential future leaders in the NMD field. With this progra …

    This Event was last updated 26 January 2021

  • EJPRD Information Webinar on the Joint Transnational Call 2021

    The EJP RD is glad to invite you to the information webinar organised for potential applicants to the Joint Transnational Call 2021 on “Social Sciences and Humanities Research to Improve Health Care Implementation and Everyday Life of People Living wit …

    This Event was last updated 26 January 2021

  • Treat-NMD Expert Masterclass on Limb Girdle Muscular Dystrophy, 29th and 30th April 2021

    Treat-NMD (treat-nmd.org) is organising a virtual masterclass of LGMD in Europe, following the success of a first masterclass last September in the USA. It will take place online on the 29th and 30th April 2021 and will have speakers from all over Euro …

    This Event was last updated 19 April 2021

  • Survey on patients organisations’ knowledge and position paper on screening for inherited neuromuscular diseases in Europe

    A new Euro-NMD publication is now available preprint on The Orphanet Journal of Rare Diseases about  European patients organisations’ knowledge and position paper on screening for inherited neuromuscular diseases. The need for this paper arises from th …

    This Post was last updated 24 February 2021

  • ERN acknowledgement in ERN members’ publications/communications

    If you publish on the name of an Institution that is Member of the ERN Euro-NMD you are expected to acknowledge the ERN in the paper. Please use the following when referring to the ERN Euro-NMD in any relevant publications you might contribute to. …

    This Post was last updated 15 March 2021

  • Progressive Supranuclear Palsy – Update on Diagnostics, Biomarkers & Therapies

    Next ERN-RND joint webinar with Euro-NMD and the European Academy of Neurology is on 26 Jan 2021 at 3:00 PM (CET) Delivered by Günter Höglinger, Medical University Hannover  

    This Event was last updated 17 September 2021

  • SLEEPINESS, FATIGUE AND APATHY IN DM1 PATIENTS

    Myotonic Dystrophy’s CNS manifestations are most incapacitating and Dr Gallais has spent many years researching effects of symptoms like apathy, fatigue and sleepiness to improve their management and improve these patients’ quality of life. Dr Benjamin …

    This Event was last updated 26 January 2021

  • Coordinator’s Message and Season’s Greetings

    Despite the extraordinary circumstances of 2020, Euro-NMD has consolidated as a network for neuromuscular disorders. It started the year with 61 full members (HCPs) and welcomed 9 affiliated partners in 2020. Moreover, we are currently evaluating 26 ne …

    This Event was last updated 23 December 2020

  • Coordinator’s Message and Season’s Greetings

    Despite the extraordinary circumstances of 2020, Euro-NMD has consolidated as a network for neuromuscular disorders. It started the year with 61 full members (HCPs) and welcomed 9 affiliated partners in 2020. Moreover, we are currently evaluating 26 ne …

    This Post was last updated 18 January 2021

  • WMS Congress 21-25 September 2021 is going virtual.

    Building on the recent success of the WMS 2020 Virtual Congress and the ongoing uncertainty around the COVID-19 situation the Executive Board of WMS has taken the decision to move forward with a virtual congress for 2021. We therefore look forward to w …

    This Event was last updated 3 December 2020

  • The latest EJPRD newsletter is now online.

    Please, read it online clicking on the link we provide. The European Joint Programme on Rare Diseases (EJP RD) brings over 130 institutions (including all 24 ERNs)  from 35 countries: 26 EU Member States (Austria, Belgium, Bulgaria, Czech Republic, Den …

    This Event was last updated 3 December 2020

  • EAN decides to hold virtual congress in June 19-22 2021

    Due to the continuing COVID-19 pandemic the European Academy of Neurology has decided to go virtual again for the 7th EAN Congress on June 19-22, 2021, originally to be held in Vienna.

    This Event was last updated 3 December 2020

  • The ERICA Project: joining forces to integrate research and innovation capacity across all 24 European Reference Networks

    The European Rare disease research Coordination and support Action (ERICA) Project received a positive evaluation for a H2020 grant to establish a structural framework in support of the research activities of the ERNs, including ERN Euro-NMD. ERICA wil …

    This Event was last updated 3 December 2020

  • IRDiRC Conference and RE(ACT) Congress 2021

    The International Rare Diseases Research Consortium (IRDiRC) and The BLACKSWAN Foundation alongside with the European Joint Programme on Rare Diseases (EJP RD) are hosting a joint online event IRDiRC Conference and RE(ACT) Congress 2021 from 13th to 15 …

    This Event was last updated 24 November 2020

  • 7th Congress of the European Academy of Neurology goes Virtual

    The European Academy of Neurology has decided to go virtual again for the 7th EAN Congress on June 19-22, 2021, originally to be held in Vienna. Once again, we look forward to offering you the opportunity to learn from experts in your field, grow your …

    This Event was last updated 25 March 2021

  • Vincenzo Nigro

    Full professor of Medical Genetics at the Department of “Precision Medicine” of the “University “Luigi Vanvitelli” of Naples, Italy ” and Associate Investigator of the Telethon Institute of Genetics and Medicine (TIGEM).

    This Contact was last updated 30 November 2021

  • Next round of bursaries announced!

    The next round of bursary applications is now open. The bursary scheme is open to young researchers/doctors under the age of 40 years old that belong to one of the EURO-NMD healthcare providers. Due to the COVID19 pandemic and widespread travel disrupt …

    This Post was last updated 24 February 2021

  • International Neuromuscular COVID-19 Database

    Information regarding the paediatric & adult Neuromuscular COVID-19 Database, to monitor and report on outcomes of “Coronavirus Disease 2019” (COVID-19) occurring in patients with Neuromuscular Diseases. Guidelines and how to access the database is …

    This Page was last updated 2 November 2020

  • Registry Hub for Rare Neuromuscular Diseases

    Patient centered and interoperable registry hub for Rare Neuromuscular Diseases A recognised challenge for rare diseases is the heterogeneity of legacy data sets and the multiplicity of existing registries. EURO- NMD health care providers and patient o …

    This Page was last updated 2 November 2020

  • Duchenne Patient Academy

    Closing Date for Applications – 13th November 2020 Duchenne Patient Academy is open to DMD/BMD patient advocates, with selected days open to all NMD patient advocates who might be interested. It will be of particular interest to the following groups: i …

    This Event was last updated 26 October 2020

  • ENMD 2020

    The aim of the congress is to outline innovative solutions in diagnosis, treatment and care of the patient with a neuromuscular disease has been and, even more so now, continues to be an important milestone along the road to improve management of these …

    This Event was last updated 21 October 2020

  • EURO-NMD Board & Working Group Meetings – Winter 2020

    EURO-NMD network stakeholders – please save the date! 8-11 December 2020 Our next board meeting and associated group meetings is now scheduled to take place in early December 2020. As with all meetings being held in this current crisis we will be holdi …

    This Event was last updated 24 February 2021

  • EURO-NMD Board & Working Groups Meeting December 2020

    With the ongoing COVID-19 outbreak worldwide most meetings and conferences throughout 2020 have been cancelled, postponed or moved to an online format. Our December 2020 board and working group meetings is no exception. For reasons of safety and becaus …

    This Post was last updated 23 December 2020

  • Mitochondrial Medicine (Virtual Conference)

    Owing to the ongoing situation with covid-19, this event will be organised as a virtual conference. Abstract deadline: 6 October 2020 This will be the fifth conference in the series of meetings on mitochondrial disorders and the search for novel effect …

    This Event was last updated 5 October 2020

  • Action Duchenne International Conference 2020

    The 2020 Action Duchenne Annual International Conference will take place online this year. They are planning a virtual experience that will take focus on the weekend of 14th and 15th November 2020. The conference is so important for so many other reaso …

    This Event was last updated 30 September 2020

  • WMS25 Virtual Congress

    The 25th International Congress of the World Muscle Society will be held virtually, a first for the WMS! The congress will take place from 28th September to 2nd October 2020 The virtual meeting will still provide a multidisciplinary scientific forum to …

    This Post was last updated 24 February 2021

  • Myobase – The bibliographic database of neuromuscular disorders

    Myobase gives access to more than 75% of records in fields related to medical, scientific, psychosocial and psychological aspects of these diseases as well as disabilities. The database is implemented by AFM-Téléthon library which has been collecting d …

    This Page was last updated 19 August 2020

  • Gait rehabilitation in people with hereditary spastic paraplegia & Respiratory physiotherapy in Parkinson’s plus syndromes

    Gait rehabilitation in people with hereditary spastic paraplegia was delivered by Jorik Nonnekes, MD PhDRadboud University Medical Centre, Nijmegen Donders Institute for Brain, Cognition and Behaviour Centre of Expertise for Parkinson & Movement Di …

    This Event was last updated 17 August 2020

  • Henning Andersen

    This Contact was last updated 19 January 2022

  • Italian Meeting on Mitochondrial Diseases

    This 10th iteration of the Italian Meeting on Mitochondrial Diseases will be held virtually. It will be a unique opportunity to discuss and update on current understandings of mitochondrial diseases. The official language is English. Participation is f …

    This Event was last updated 23 July 2020

  • Rehabilitation in ataxia: current evidence and practice

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN). Ludger Schöls is a Professo …

    This Event was last updated 17 September 2021

  • Development of Sara-home: a novel assessment tool for patients with ataxia

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN). Gessica Vasco is Pediatric …

    This Event was last updated 17 September 2021

  • Functional movement disorders: a diagnostic guide

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Christos Ganos is a neurolog …

    This Event was last updated 23 July 2020

  • Non-invasive stimulation for ataxias

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Bart van de Warrenburg is a …

    This Event was last updated 11 November 2020

  • Clinical practice recommendations for physical therapy for Huntington’s disease

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN). Bernhard Landwehrmeyer is a …

    This Event was last updated 17 September 2021

  • Treatment of spasticity in HSP and leukodystrophies

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Annemieke Buizer is Full Pro …

    This Event was last updated 11 November 2020

  • Hereditary Spastic Paraplegia – clinical disease course

    oint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Rebecca Schüle is neurologist and associate professor at the Universit …

    This Event was last updated 11 November 2020

  • How can we develop and implement evidence based rehabilitation in rare disorders?

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Hortensia Gimeno is a Clinic …

    This Event was last updated 11 November 2020

  • A challenge in neurogenetics: Huntington disease in kids

    Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Ferdinando Squitieri is a Neurologist with a PhD in Neurobiology. He …

    This Event was last updated 11 November 2020

  • How to assess and manage spastic gait in rare diseases?

    Educational webinars on Neurorehabilitation jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Gál Ota is a physiotherapist …

    This Event was last updated 11 November 2020

  • The semantic variant of primary progressive aphasia: clinical manifestation and underlying neuropathology

    Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN). Speakers: Zsolt Cséfalvay, PhD, professor and head of the Department …

    This Event was last updated 23 September 2020


  • The Cyprus Foundation for Muscular Dystrophy Research

    This Healthcare Provider was last updated 9 July 2020

  • Mater Dei Hospital

    This Healthcare Provider was last updated 9 July 2020

  • Malta

    This Country and language was last updated 9 July 2020

  • Aarhus Universitets Hospital

    This Healthcare Provider was last updated 9 July 2020

  • Patient centered and interoperable registry hub for Rare Neuromuscular Diseases

    Friday June 26 – Today, over 20 project partners from 7 organizations participated in the joint kick-off of the EURO-NMD Registry Hub project. The goal is to build a registry hub for all neuromuscular diseases, including undiagnosed patients, and conne …

    This Post was last updated 2 July 2020

  • ICNMD Digital

    ICNMD will be offering a Virtual teaser this 11 – 14 September 2020. This Fall will feature just some of the latest science collected to date and give you a taste of what to expect in Valencia. More details to come on this exciting new addition shortly …

    This Event was last updated 30 June 2020

  • CHALLENGES IN THE DIAGNOSIS AND MANAGEMENT OF PATIENTS WITH MYASTHENIA GRAVIS

    This Webinar has been delivered by Prof Isabel Leite, University of Oxford, UK on Thursday 10 December 16:00 (Paris Time) This is part of a joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscul …

    This Event was last updated 4 January 2021

  • Virtual coffee with patient organisations and Share4Rare

    Research is at the heart of solutions for all patients. However, it is not always conducted with the patient in mind. Patient organisations are increasingly invited to submit evidence to healthcare decision-makers, but collecting good quality evidence …

    This Event was last updated 10 June 2020

  • Virtual coffee with patient organisations and Share4Rare

    Research is at the heart of solutions for all patients. However, it is not always conducted with the patient in mind. Patient organisations are increasingly invited to submit evidence to healthcare decision-makers, but collecting good quality evidence …

    This Post was last updated 24 February 2021

  • Philippe Kerschen

    Specialist in neurology – Department of NeurologyMedical studies in France first as a hospital intern at Nancy University Hospital (2003-2008) and then as University Clinical Director – Hospital Assistant at Henri Mondor University Hospital in Créteil (2008-2012). Complementary training in electroencephalography (EEG) in the clinical neurophysiology department of the CHU Pitié-Salpêtrière in Paris (2012-2013).

    This Contact was last updated 30 November 2021

  • Fernand Pauly

    Doctor Fernand Pauly is the founder of the Functional Evaluation and Rehabilitation Service Medical studies mainly in Strasbourg and Nancy with exchanges with Heidelberg and Paris, specialization in pediatrics and functional rehabilitation and rehabilitation, CES in physiology and sports medicine, inter-university diploma in the treatment of childhood pain.

    This Contact was last updated 23 November 2021

  • Centre Hospitalier de Luxembourg

    This Healthcare Provider was last updated 10 June 2020

  • Luxembourg

    This Country and language was last updated 10 June 2020

  • PAINFUL NEUROPATHIES: FROM DIAGNOSIS TO TREATMENT

    This webinar was delivered by Janneke Hoeijmakers in August 2020. Janneke is a medical advisor for the diagnosis group small fiber neuropathy of the Dutch patients organization for neuromuscular disorders (Spierziekten Nederland) and board member of th …

    This Event was last updated 4 January 2021

  • AFM – COVID-19 Guidelines Available

    L’AFM-Téléthon, Association de Patients Française, et FILNEMUS , la Filière Neuromusculaire Française have developed a series of practical guidelines that wheelchair users, caregivers and the general wider NMD community might find useful. There are fou …

    This Post was last updated 1 June 2020

  • The position of neuromuscular patients in Shared-Decision-Making

    ENMC highlights workshop report In 2018, ENMC held a special workshop on how to involve patients more in the decision making about research and care management of neuromuscular conditions. The ENMC White paper resulting from this meeting came out just …

    This Post was last updated 21 May 2020

  • Register for the 2020 Online Network Group Meetings

    Download the July 2020 Agenda Registration is now closed  

    This Page was last updated 6 July 2020

  • Register for 2020 Online Board Meeting

    Due to the COVID-19 pandemic, our 2020 Summer Board Meeting has moved to an online format. Download the July 2020 Agenda Registration is now closed

    This Page was last updated 6 July 2020

  • French Association against Rare Peripheral Neuropathies

    This Organisation was last updated 19 May 2020

  • Gli Equilibristi HIBM

    This Organisation was last updated 17 March 2021

  • CIDP Italia ONLUS

    This Organisation was last updated 14 May 2020

  • Massimo Marra

    This Contact was last updated 29 November 2021

  • Diagnostic algorithm for childhood onset chorea

    This webinar was part of a joint series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN). It was delivered by Juan Dario Ortigoza-Escobar w …

    This Event was last updated 17 September 2021

  • MANAGEMENT OF CARDIAC INVOLVEMENT IN GENETIC MYOPATHIES

    This webinar was delivered Karim Wahbi who is Professor of Cardiology at the University of Paris, France and head of the reference centre for neuromuscular cardiomyopathies in Cochin Hospital, Paris. He completed his cardiology internship and residency …

    This Event was last updated 4 January 2021

  • Patricia Blomkwist-Markens

    This Contact was last updated 30 November 2021

  • Michela Onali

    This Contact was last updated 30 November 2021

  • Huntington’s disease & COVID-19: a difficult combination

    This webinar was presented by EHA & ERN-RND on the 6th April 2020.

    This Event was last updated 15 April 2020

  • INTRODUCTION TO MR NEUROGRAPHY

    This webinar was delivered by Olivier Scheidegger from the Bern University Hospital/University of Bern in Switzerland. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-Euro …

    This Event was last updated 4 January 2021

  • PEDIATRIC MUSCLE IMAGING

    This webinar was delivered by Robert-Yves Carlier from University Hospital Raymond-Poincaré APHP in France. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-Euro-NMD) and t …

    This Event was last updated 4 January 2021

  • MHTest form page

    [iphorm id=”32″ name=”NMD & COVID-19 – about the patient 2″]

    This Page was last updated 8 April 2020

  • Renin–Angiotensin–Aldosterone System Inhibitors in Patients with Covid-19

    The New England Journal of Medicine have recently published this special report on Renin–Angiotensin–Aldosterone System Inhibitors in Patients with Covid-19. The renin–angiotensin–aldosterone system (RAAS) is an elegant cascade of vasoactive peptides t …

    This Post was last updated 6 April 2020

  • Rare disease community raises alert over discrimination in critical care guidelines during COVID-19 pandemic

    EURORDIS urges immediate action and proposes concrete solutions 31 March, Paris – EURORDIS-Rare Diseases Europe is alarmed by reports from member organisations and individuals that people living with a rare disease are being discriminated against in cr …

    This Post was last updated 2 April 2020

  • Pulmonary Support for Myotonic Dystrophy Patients During COVID-19 Pandemic

    NMD4c the neuromuscular network for Canada releases information regarding pulmonary support for Myotonic Dystrophy patients during the  COVID-19 Pandemic. New COVID-19-related guidance has been produced for people living with myotonic dystrophy who alr …

    This Post was last updated 1 April 2020

  • COVID-19: Care Recommendations for Home-Based Ventilation Patients

    NMD4c the neuromuscular network for Canada releases recommendations for home based ventilation. As COVID-19 continues to affect our daily lives, it is critical that we try to limit the spread of the virus as much as possible. This is especially applica …

    This Post was last updated 1 April 2020

  • EMA advises continued use of medicines for hypertension, heart or kidney disease during COVID-19 pandemic

    Press release 27/03/2020 EMA is aware of recent media reports and publications which question whether some medicines, for instance angiotensin converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs, or sartan medicines), could worse …

    This Post was last updated 31 March 2020

  • Guidance for the management of Myasthenia Gravis (MG) and Lambert-Eaton Myasthenic Syndrome (LEMS)

    This article has been developed to offer guidance for those people who are affected by Myasthenia Gravis or Lambert-Eaton Myasthenic Syndrome. As most patients with MG are on immunosuppressive or immunomodulatory therapies and may also have respiratory …

    This Post was last updated 30 March 2020

  • COVID-19 and NMDs – Latest news

    On this page we will attempt to collate all the information we receive or find out about on the virus COVID-19 and the implications it has on the neuromuscular community. We will try to keep this page as up to date as possible but as you can appreciate …

    This Page was last updated 30 March 2020

  • EU Commission launches “COVID-19 Clinical Management Support System”

    On 24 March, the European Commission launched the “COVID-19 Clinical Management Support System” with the aim to support clinicians in hospitals that are currently facing the coronavirus emergency all over Europe. Based on the experience with the Europe …

    This Post was last updated 30 March 2020

  • Covid-19 and people with neuromuscular disorders: World Muscle Society position and advice

    Dr. Maxwell S. Damian, PhD, collated the World Muscle Society (WMS) Covid-19 advice (28th March 2020) for neuromuscular patients, carers, general neurologists and non-specialist medical providers. This document is also intended to inform neuromuscular …

    This Post was last updated 22 April 2020

  • Coronavirus: ALERT on the use of chloroquine in myasthenia gravis

    Coronavirus: ALERT on the use of chloroquine in myasthenia gravis Please note: in myasthenia gravis, chloroquine, erythromycin and telithromycin are an absolute contraindication. These treatments can make your condition worse and are likely to trigger …

    This Post was last updated 30 March 2020

  • ERN EURO-NMD survey on Neuromuscular Diseases and COVID-19 infection

    Why questionnaires? Some of the patients with a neuromuscular disease can be more vulnerable to COVID19 infection. Still much needs to be learned about the indications for NMD patients and how to act in case of COVID 19 infection. Also, the approaches …

    This Page was last updated 26 March 2020

  • COVID-19 advice for the NMD community – UPDATED

    The current guidelines regarding COVID-19 exposure and preventive measures can be found on the World Health Organisation (WHO) website. Guidelines in English Guidelines in French In order to inform the neuromuscular community we have prepared the follo …

    This Post was last updated 30 March 2020

  • Translational Summer School 2020 – Postponed!

    We are sad to announce that we have taken the difficult decision to postpone the 2020 Translational Summer School which was due to be held in Leiden in July. We fully anticipate that this will now take place in July 2021. This summer school is a collab …

    This Post was last updated 30 March 2020

  • NMD & COVID-19 – hospital survey

    [iphorm id=”29″ name=”NMD & COVID-19 – about the hospital”]

    This Page was last updated 18 March 2020

  • NMD & COVID-19 – patient survey

    [iphorm id=”32″ name=”NMD & COVID-19 – about the patient 2″]

    This Page was last updated 16 April 2020

  • François Lamy

    François Lamy is the father of a 11 year-old boy with Duchenne Muscular Dystrophy. He has been elected as a member of the Board of Directors of the AFM-Téléthon since 2012, and currently serves as its Vice-President in charge of research.

    This Contact was last updated 23 November 2021

  • Patient Advisory Board – PAB

    The Patient Advisory Board (PAB) comprises of the European Patient Advocacy Group (ePAG) which is made up of 7 patient organisations elected through a process put in place by EURORDIS for patient organisations in general, as well as invited umbrella pa …

    This Page was last updated 4 June 2021

  • Patrizia Garzena

    This Contact was last updated 30 November 2021

  • International Course and Conference on Neuromuscular Imaging 2021

    The dates of this conference have changed from September 2020 to September 2021. The program has been updated The 9thAnnual Meeting of the International Society of Peripheral Nerve Imaging (ISPNI) will take place in the vibrant port city of Rotterdam, …

    This Event was last updated 12 May 2020

  • Serenella Servidei

    This Contact was last updated 30 November 2021

  • EURO-NMD takes part in rare diseases day at the European Parliament

    People living with SMA, ALS and other rare disease was the focus of the Rare Disease event at the EU Parliament on 18 February. The event was organised by Biogen in collaboration with EURORDIS, the patient organisation for rare diseases, hosted by the …

    This Post was last updated 2 March 2020

  • Hypomyelination (paediatric focus)

    Nicole Wolf is a child neurologist at the Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, the Netherlands. Nicole does research in leukodystrophies: metachromatic leukodystrophy and hypomyelinating leukodystrophies …

    This Event was last updated 7 May 2020

  • X-linked adrenoleukodystrophy (adult/paediatric focus)

    Marc Engelen is a Pediatric Neurologist from the University Medical Center in Amsterdam, the Netherlands. He is an expert on adrenoleukodystrophy and other neurodegenerative diseases. Joint webinar series by the European Reference Networks for Rare Neu …

    This Event was last updated 15 April 2020

  • Paroxysmal dyskinesias: update on clinical and genetic aspects

    Giovanna Zorzi is a pediatric neurologist from the Foundation I.R.C.C.S – Institute of Neurology Carlo Besta, Milan, Italy . She is an expert in pediatric movement disorders. Joint webinar series by the European Reference Networks for Rare Neurological …

    This Event was last updated 23 July 2020

  • Monica Sciacco

    This Contact was last updated 4 January 2022

  • Janneke Hoeijmakers

    Dr. Janneke G.J. Hoeijmakers MD, PhD is a neuromyologist at the Maastricht University Medical Center+, Maastricht, the Netherlands.

    This Contact was last updated 6 December 2021

  • EURO-NMD Board & Working Group Meetings 2020 ONLINE!

    Our Summer Working Group Meetings and Board Meeting will be held online! Please note: All times are in CET (Paris time) Individual agendas and information about each meeting are available below by clicking on the meeting name Friday 10th July 2020 Dise …

    This Event was last updated 2 August 2022

  • Children’s Clinical University Hospital

    This Healthcare Provider was last updated 21 July 2022

  • New Share4Rare Chapter for Congenital Muscular Dystrophies

    The Share4Rare Congenital Muscular Dystrophies chapter is now available.  The chapter describes the different types of Congenital Muscular Dystrophies, the cause of the disease and complications associated with diagnosis. You will also find links to re …

    This Post was last updated 2 March 2020

  • Matthias Baumann

    Matthias Baumann, MD and PhD, is head of the division of Paediatric Neurology and Lecturer in Paediatrics at the Department of Paediatrics, Medical University Innsbruck, Austria. He is a medical doctor and specialized in Paediatrics and Paediatric Neurology in Wolfsburg, Göttingen and Kassel, Germany.

    This Contact was last updated 19 July 2022

  • Wolfgang Löscher

    Wolfgang Löscher, MD and PhD, is Professor for Neurology at the Department of Neurology, Medical University Innsbruck, Austria. After finishing his PhD in Neuroscience at the Karolinska Institute, Stockholm, Sweden, he trained in neurology at the Departments of Neurology, Medical University Salzburg and Graz.

    This Contact was last updated 19 July 2022

  • Sabine Rudnik-Schöneborn

    Representative for the ERN: Sabine Rudnik-Schöneborn, MD and PhD, is Professor and Lecturer in Clinical Genetics at the Institute of Human Genetics, Medical University Innsbruck, Austria. She is a medical doctor and specialized in human genetics at the University of Bonn, Germany. She worked many years as a senior clinical geneticist at the Institute of Human Genetics, University Hospital Aachen, Germany.

    This Contact was last updated 19 July 2022

  • Institute of Human Genetics, Medical University Innsbruck

    This Healthcare Provider was last updated 19 July 2022

  • Avances en patología neuromuscular en la infancia 8a edición

    Registration is now open for the 8th Paediatric Neurology Face-to Face course (in Spanish ) – 8th Avances en patología neuromuscular en la infancia. This course will taught throughout in Spanish and will be held in Hospital Universitari Sant Joan de Dé …

    This Event was last updated 5 February 2020

  • PERSONALISED CARE FOR PATIENTS WITH ALS: ALS HOME MONITORING & CARING

    This webinar was delivered by Drs Anita Beelen and Esther Kruitwagen-van Reneen – Neuromuscular diseases in the University Medical Center Utrecht in the Netherlands. Joint webinar series by the European Reference Networks for Rare Neurological Diseases …

    This Event was last updated 4 January 2021

  • EXERCISE IN NEUROMUSCULAR DISEASES – A MOVING TOPIC

    This webinar was delivered by Nicole Voet from Klimmendaal – Polikliniek Neuromusculaire Aandoeningen in the Netherlands. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-E …

    This Event was last updated 4 January 2021


  • THE BASICS OF GENETIC APPROACHES FOR NMDs – USING DMD AS A PARADIGM

    This webinar was be delivered by Annemieke Aartsma-Rus, who is a Professor of Translational Genetics, Department of Human Genetics, Leiden University Medical Center in the Netherlands. Joint webinar series by the European Reference Networks for Rare Ne …

    This Event was last updated 4 January 2021

  • RDR Challenges Networking Event

    The innovative “Rare Diseases Research (RDR) Challenges” call will be implemented to facilitate and fund collaboration between industry, academia, SMEs, and patient organizations to solve specific research challenges in rare diseases. In order to initi …

    This Event was last updated 19 December 2019

  • International course: Training on strategies to foster solutions of undiagnosed rare disease cases ONLINE

    Please note this course will now be held online. The Course is made up of 3 days of residential training organized by ISS, Istituto Superiore di Sanità, in close collaboration with EJP RD task partners: EKUT, LBG (LBI-RUD) –Ludwig Boltzmann Gesellschaf …

    This Event was last updated 30 March 2020

  • CONGENITAL MYASTHENIA SYNDROMES – AN UPDATE

    This webinar was delivered by Dr Sithara Ramdas. Sithara is a Consultant Paediatric Neurologist and an Honorary Senior Lecturer University Of Oxford Oxford University Hospitals NHS Foundation Trust John Radcliffe Hospital. Joint webinar series by the E …

    This Event was last updated 9 February 2021

  • Recognizing atypical parkinsonism

    This webinar was presented by Wassilios Meissner from University Hospital Bordeaux, Institute of Neurodegenerative Disorders. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (E …

    This Event was last updated 15 April 2020

  • Ultrasound diagnostics for cervical dystonia

    Tobias Bäumer is a Professor of Neurology and Head of the Experimental Neurophysiology, Paediatric and Adult Movement Disorders and Neuropsychiatry Group at the Institute of Neurogenetics, University of Lübeck, Germany. Joint webinar series by the Euro …

    This Event was last updated 17 September 2021

  • Mitochondrial disorder with chorea

    Martin Paucar Arce is a neurologist from the Karolinska Institutet in Stockholm, Sweden, specialized in movement disorders. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN …

    This Event was last updated 17 September 2021

  • Introduction into Leukodystrophies

    Nicole Wolf delivered this webinar. She is child neurologist at the Center for Childhood White Matter Disorders, VU University Medical Center, Amsterdam, the Netherlands. Nicole does research in leukodystrophies: metachromatic leukodystrophy and hypomy …

    This Event was last updated 6 February 2020

  • The inherited ataxias

    This webinar was delivered by Paola Giunti who is a Principal Clinical Research Associate in the Department of Molecular Neuroscience at UCL, Institute of Neurology at UCL, UK. Her clinical and research interests are in neurogenetics, neurodegenerative …

    This Event was last updated 20 January 2020

  • European MTM-CNM Family Conference

    Please note this conference has been postponed until 2021! Together Even Stronger 2021! All people with myotubular myopathy or other centronuclear myopathies, their families, carers, doctors and therapists are warmly invited to come to Bad Nauheim from …

    This Event was last updated 12 May 2020

  • TREAT-NMD Expert Masterclass in DMD POSTPONED

    This is a medical led eductional programme designed to provide healthcare providers with the most up to date information in standards of care and treatment options. Interested applicants are asked to complete an application form. Applications are revie …

    This Event was last updated 31 March 2020

  • International Conference DMD/BMD Spain

    Ever since 2016 Duchenne Parent Project Spain has organized an annual congress. The main objective of their congress is to facilitate families and those affected who can access the exchange of information and experiences in order to favor mutual suppor …

    This Event was last updated 11 December 2019

  • 18th International Conference on Duchenne and Becker Muscular Dystrophy

    This event is organised by Parent Project Italy. Registration now open.

    This Event was last updated 6 February 2020

  • Duchenne Conference Switzerland (postponed from 2020)

    This 3rd iteration of this conference series has been postponed until 2021! Please note the new date! Confirmed speakers include Professor Volker Straub, Dr Andrea Klien, Professor Dirk Fischer and Dr James Poysky. Please note: this conference is deliv …

    This Event was last updated 18 August 2020

  • CMT-France 2020 Congress POSTPONED!

    This congress has been postponed and is expected to take place later in the year. Please visit the CMT France website for the most up to date information. The next CMT-France congress will take place in St. Malo on 28th March in the Grand Large”, the P …

    This Event was last updated 25 March 2020

  • WCN 2021

    Further information will be available here in due course. Alternatively, we recommend visiting the World Federation of Neurology’s website.

    This Event was last updated 4 December 2019

  • FSHD Connect Conference

    Further details will be available here in due course. In the meantime, find out more on the FSHD Connect website

    This Event was last updated 4 December 2019

  • 8th Dysferlin Conference POSTPONED/CANCELLED

    Due to the Corona virus the Jain Foundation have cancelled our conference. They hope to reschedule this event later and will provide updates as they become available. The Jain Foundation Dysferlin conference is the only meeting of its kind and focuses …

    This Event was last updated 9 March 2020

  • 2020 MDA Clinical and Scientific Conference – POSTPONED!!

    The MDA 2020 conference has been postponed! Please check with the MDA conference website directly to ensure you have access to the very latest information. 2020 marks the 70th anniversary of the Muscular Dystrophy Association (MDA), the umbrella associ …

    This Event was last updated 16 March 2020

  • SMA Clinical Care Meeting ONLINE

    The current state of the COVID-19 pandemic has led Cure SMA to reschedule its annual conference events as virtual gatherings. Please save the date for Cure SMA’s first-ever virtual SMA Research & Clinical Care Meeting, taking place June 10-12, 2020 …

    This Event was last updated 12 May 2020

  • SMA Researcher Meeting ONLINE

    The current state of the COVID-19 pandemic has led Cure SMA to reschedule its annual conference events as virtual gatherings. Please save the date for Cure SMA’s first-ever virtual SMA Research & Clinical Care Meeting, taking place June 10-12, 2020 …

    This Event was last updated 12 May 2020

  • 2020 Annual Cure SMA Conference CANCELLED

    This conference has been cancelled. Cure SMA has been closely monitoring news and reports of the Coronavirus (COVID-19) outbreak. The current status of the pandemic and associated governmental regulations, restrictions, and advisories, as well as the n …

    This Event was last updated 12 May 2020

  • 2nd International Scientific & Clinical Congress on Spinal Muscular Atrophy

    After the great success of SMA Europe’s first International Scientific Congress on spinal muscular atrophy in Krakow, SMA Europe are happy to announce that they will be holding a second International Congress on spinal muscular atrophy, between 5th and …

    This Event was last updated 3 December 2019

  • PPMD 2020 Annual Conference ONLINE

    PPMD has made the difficult decision to change the format of their Annual Conference this summer, previously set to be an in-person meeting in July in Arizona. With so much uncertainty around the COVID-19 pandemic, they feel that it is best to cancel o …

    This Event was last updated 12 May 2020

  • 18th Annual King’s Neuromuscular Disease Symposium

    This educational meeting is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle. It aims to provide practical general clinical updates as well as an introduction to the science underlying neuromusc …

    This Event was last updated 3 December 2019

  • Rare Film Festival

    Rare Disease UK is hosting the UK’s first ever film festival that is dedicated to raising awareness of rare diseases. We are inviting charities, companies, independent film-makers, students and individuals to submit their films. Our judging panel will …

    This Event was last updated 3 December 2019

  • UK Neuromuscular Translational Research Conference 2020 CANCELLED!

    This Conference has been cancelled! Designed to engage neuromuscular clinicians and scientists, this conference showcases the best and latest developments in neuromuscular science, and highlights their translation into patient benefit.

    This Event was last updated 10 March 2020

  • ICNMD 2020 POSTPONED

    This congress has been postponed for full, up to the minute details please visit the congress website. The International Congress on Neuromuscular Diseases, ICNMD 2020 will be taking place in Valencia, Spain, on July 10-14, 2020. The University Hospita …

    This Event was last updated 24 March 2020

  • Cell Symposia: Multifaceted Mitochondria

    This event has been postponed due to the ongoing COVID-19 pandemic. Find out the very latest information from the Symposium Website. Our classical view of mitochondria as sites of biosynthesis and bioenergy production has dramatically expanded in recen …

    This Event was last updated 30 September 2020

  • 14th EPNS Congress

    The EPNS Congress provides an opportunity to learn about the latest developments in the rapidly evolving field of child neurology including basic science, diagnostic methods and novel treatments. You can network with colleagues and industry partners all …

    This Event was last updated 3 December 2019

  • 2020 Myotonic Annual Conference POSTPONED

    After significant discussion and careful consideration, our Board of Directors has voted to postpone our Family Conference until fall 2021

    This Event was last updated 12 May 2020

  • Clinical evaluation of Dystonia

    This webinar was delivered by Professor Kailash Bhatia of Clinical Neurology in the Department of Clinical and Movement Neuroscience at the Institute of Neurology, UCL, Queen Square, London. Kailash is an expert in movement disorders, like Dystonia, Pa …

    This Event was last updated 17 September 2021

  • Save these Dates!!!

    2020 is fast approaching and to help you all plan for the upcoming year we have finalised the dates and locations for both our Translational Summer School and Annual Meeting. Translational Summer School 6-10 July 2020 – Leiden, Netherlands EURO-NMD Ann …

    This Post was last updated 21 November 2019

  • Liis Sabre

    I am working at Tartu University Hospital as a neurologist since 2014 after receiving the Degree in Medicine (MD) in 2009 and completing my residency in neurology at University of Tartu.

    This Contact was last updated 29 November 2021

  • Tanya Stojkovic

    I was born in 1966 in Paris, France, where I studied Medicine at the University Pierre and Marie Curie Medicine School of Paris. I moved in 1990 in the Medicine school of Lille, France and graduated as neurologist in 1994. I moved in Paris in 1994 and worked in Pitié-Salpêtrière until 1996. I obtained a university degree in Neurophysiology and a master in Neurobiology.

    This Contact was last updated 3 December 2021

  • Gineta Liutkiene

    This Contact was last updated 23 November 2021

  • Past Summer Schools

    Our annual Summer School is fast becoming an established feature in the community’s calendar. The courses, which are delivered by key experts in the field, are kept deliberately small to ensure a high quality, truly immersive experience for all attende …

    This Page was last updated 18 July 2022

  • Upcoming Summer School

     Translational Summer School 2020 will be held in Leiden, Netherlands 6-10 July Futher details of the programme and those who will deliver the various sessions will be available in due course. The applications process to attend will also be available f …

    This Page was last updated 27 November 2019

  • XIII. Czech and Slovak Neuromuscular Congress

    Annual joint meeting of Czech and Slovak neuromuscular society. Congress languages are Czech, Slovak, and English. Please note: This congress now has a new dates in September!  

    This Event was last updated 31 March 2020

  • eNMD 2020 POSTPONED!

    Postponement of eNMD 2020   We regret to announce that due to the current outbreak of coronavirus in northern Italy and the resulting travel restrictions that are now in place the eNMD congress has been postponed. Once a new date for the congress …

    This Event was last updated 21 October 2020

  • How to Reference our Network in your Publications

    Please use the following when referring to the ERN EURO-NMD in any relevant publications you might contribute to. Click here to download guidance PDF   Acknowledgement for ERN EURO-NMD Situation 1. ” The two (or more) of the/several author(s) of t …

    This Page was last updated 16 November 2021

  • Hospital of Lithuanian University of Health Sciences Kauno Klinikos

    This Healthcare Provider was last updated 12 November 2019

  • New nomenclature for LGMD: patient information leaflet

    A new nomenclature for LGMD was developed during the 229th ENMC workshop in Naarden, The Netherlands in 2017. This was needed because the definition of LGMD needed an update and the sub-type numbering of the recessive form reached the Z (LGMD 2Z). Cons …

    This Page was last updated 4 June 2021

  • Rare Disease Day 2020!

    Rare Disease Day 2020 is on Saturday 29th February! We don’t think it can get more special than that! More details to follow.

    This Event was last updated 24 October 2019

  • 6th Congress of the European Academy of Neurology

    This year’s congress will now be held online The overarching theme of the congress is “Time for Action: Predict, Prevent, Repair”. The ‘red thread’ of the congress will show and demonstrate in many sessions with a rich spectrum of high-quality informat …

    This Event was last updated 12 May 2020

  • Diplôme Inter-Universitaire de Myologie 2019-2020

    OBJECTIF Les progrès rapides de la recherche, le renouveau des concepts, l’évolution de la prise en charge des malades font désormais de la myologie un champ bien différencié de la médecine. L’objectif de l’enseignement est d’apporter aux étudiants une …

    This Event was last updated 22 October 2019

  • Share4Rare Myotonic Dystrophy Chapter now available!

    The Share4Rare Myotonic Dystrophy chapter is now available.  The chapter describes the different types of Myotonic Dystrophy, the cause of the disease and complications associated with diagnosis. You will also find links to resources for disease manage …

    This Post was last updated 2 March 2020

  • Workshop and Hackathon: Molecular pathways for rare disease (FAIR) data analysis

    Registration deadline 10th November 2019 The focus of this workshop is: 1. Pathway creation and curation – especially rare disease and adverse outcome pathways inspired by needs of ERNs and tox community (day 1-2) 2. FAIR data preparation (prep for pat …

    This Event was last updated 24 October 2019

  • Tartu University Hospital

    This Healthcare Provider was last updated 21 October 2019

  • Immune – mediated choreas

    The webinar was presented by Jan Lewerenz who a is neurologist, University Hospital Ulm, Germany. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

    This Event was last updated 4 March 2020

  • Non-progressive congenital ataxia

    The webinar was presented by Alfons Macaya, Hospital Universitari Vall d’Hebron, Paediatric Neurology, Barcelona, Spain. The recording of this webinar will be available here shortly in the meantime you can view the slides here. Joint webinar series by …

    This Event was last updated 4 March 2020

  • Neuroacanthocytosis syndromes

    The webinar was presented by Adrian Danek, Ludwig Maximilian University, Cognitive Neurology, Munich, Germany. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and …

    This Event was last updated 20 January 2020

  • Clinical Features of Ataxia

    The webinar will be presented by Bart van de Warrenburg who is a neurologist from the Radboud University Medical Center, Nijmegen, the Netherlands who is an expert on ataxia and has special interest in rare and genetic movement disorders. Joint webinar …

    This Event was last updated 20 January 2020

  • Call for new members to join existing ERNs

    We are delighted to announce that the European Commission has launched the first call for new members to join the existing 24 ERNs. Briefly outlined, the membership application process involves several steps: Review the information that is included on …

    This Post was last updated 30 January 2020

  • EuroBioBank

    EuroBioBank network, the first operating network of biobanks in Europe providing human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases. It is the only network dedicated to rare disease research …

    This Page was last updated 22 August 2019

  • Ottawa NMD 2019

    5th Ottawa International Conference on Neuromuscular Disease and Biology The uOttawa Centre for Neuromuscular Disease is hosting the 5th Ottawa International Conference on Neuromuscular Disease and Biology on October 17-19, 2019. The Ottawa NMD 2019 co …

    This Event was last updated 14 August 2019

  • Thomas Sejersen

    This Contact was last updated 30 November 2021

  • Karolinska University Hospital

    This Healthcare Provider was last updated 13 August 2019

  • Registries Position Paper Issued by Patient Advisory Board

    EURO-NMD Patient Advisory Board (PAB) has published a position paper which describes patients’ views on the design of the EURO-NMD registry, its governance, its funding. The paper, which is available to download, formalises patients’ views on the topic ahead of the call for dedicated ERN registries.

    This Post was last updated 30 July 2019

  • Mitochondria Symposium From Bench to Bedside

    During the Global Mitochondrial Disease Awareness Week 2019 on Friday 20th September the RCMM is organizing this symposium for all scientific researchers that are working or are interested in this research field. PhD students and Postdocs are kindly in …

    This Event was last updated 29 July 2019

  • CLASSIFICATION OF INFLAMMATORY MYOPATHIES

    Pr. Olivier Benveniste delivered the 45 minute webinar which was recorded. The webinar took place at 13:00-14:00 (London) 14:00-15:00 (Paris) on 5th December. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-R …

    This Event was last updated 4 January 2021

  • MYOTONIC DYSTROPHIES

    This webinar took place – 13:00-14:00 (London) / 14:00-15:00 (Paris) 21 November 2019 It was presented by Pr. Benedikt Schoser, Friedrich-Baur-Institut, Munich, Germany We would like to take this opportunity to thank Benedikt for delivering this presen …

    This Event was last updated 4 January 2021

  • EURORDIS Digital School on Social & Digital Media

    The EURORDIS Digital School aims at empowering patient advocates, working with rare diseases and rare cancers, to use digital communication tools to improve the strategic outreach and community-building capacities of their organisations. The training t …

    This Event was last updated 29 July 2019

  • Rare disease perspectives in Central – Eastern Europe

    On September 16th 2019, a workshop “Rare disease perspectives in Central – Eastern Europe”, twinned to the General Assembly of EJP RD, will be organized in Gdansk, Poland. The main aims of this conference are discuss challenges and opportunities of rar …

    This Event was last updated 29 July 2019

  • RE(ACT) Congress 2020 and IRDiRC Conference POSTPONED

    Postponement  of the RE(ACT) Congress and IRDiRC Conference   We regret to announce that this event has postponed due to current international travel policies. It is anticipated that this event will now take place in early 2021. The organisers of …

    This Event was last updated 3 March 2020

  • 10th European Conference on Rare Diseases & Orphan Products – NOW ONLINE!!

    ECRD 2020 will now take place online! This statement from organizers has been released. Please visit the conference website for more information. European Joint Programme on Rare Diseases serves as official partners for the 10th European Conference on …

    This Event was last updated 12 May 2020

  • MD1 Action Team

    This Organisation was last updated 25 July 2019

  • Gerard Wellenberg

    Gerard Wellenberg has more than 35 years of experience in the field of human and animal disease surveillance, control and eradication programs, epidemiology and the management of many research projects in the Netherlands and abroad.

    This Contact was last updated 4 January 2022

  • Diana van der Meij-Kim

    Diana van der Meij-Kim has a son who was diagnosed with FSHD at the age of 10.

    This Contact was last updated 4 January 2022

  • FSHD Europe

    This Organisation was last updated 25 July 2019

  • Daniel Tanesse

    Daniel Tanesse and his wife both suffer from Charcot-Marie-Tooth (CMT). Daniel Tanesse first joined Charcot-Marie-Tooth France as a Regional Delegate 20 years ago.

    This Contact was last updated 4 January 2022

  • CMT-Europe

    This Organisation was last updated 25 July 2019

  • Isabela Tudorache

    Isabela Tudorache has more than 15 years of experience in social support activities for disadvantaged groups, in collaboration with government and non-government organizations.

    This Contact was last updated 4 January 2022


  • Sandrine Segovia-Kueny

    Sandrine Segovia-Kueny is the Medical Director at AFM-Téléthon. She is a doctor of medicine, graduate of the University of Nice, France.

    This Contact was last updated 4 January 2022

  • Federación ASEM

    This Organisation was last updated 25 July 2019

  • Jacques Salama

    This Contact was last updated 4 January 2022

  • Alejandra Pereda

    Alejandra Pereda has a son with Becker Muscular Dystrophy. She has been involved with Duchenne Parent Project Spain almost since the beginning of its reactivation 6 years ago.

    This Contact was last updated 4 January 2022

  • Françoise Pelcot

    Françoise Pelcot founded the French Association against Amyloidosis together with a family friend in 1994, following the loss of Paulette. She was Vice-Chairman of the association and responsible for relationships with doctors, referral centres and pharmaceutical companies.

    This Contact was last updated 4 January 2022

  • Association Française contre l’Amylose

    This Organisation was last updated 25 July 2019

  • Marie-Christine Ouillade

    Marie-Christine Ouillade has a daughter who has been diagnosed with Spinal Muscular Atrophy type II. Marie-Christine Ouillade has been actively involved in the activities of the AFM-Téléthon since 1996, and became a member of its Board of Directors in 2006, as well as a member of the Board of Directors of Genethon since 2007.

    This Contact was last updated 4 January 2022

  • Alexandre Méjat

    Molecular and cellular biologist by training, Alexandre Méjat is also affected by a Bethlem myopathy. He led a research team dedicated to Emery-Dreyfuss muscular dystrophy for 8 years.

    This Contact was last updated 4 January 2022

  • Marguerite Friconneau

    Marguerite Friconneau was diagnosed with Myasthenia Gravis in 1985. She has been elected as a member of the Board of Directors of the AFM-Téléthon since 2007.

    This Contact was last updated 4 January 2022

  • Mitocon – Insieme per lo studio e la cura delle malattie mitocondriali

    This Organisation was last updated 25 July 2019

  • L’AMMi – Association contre les Maladies Mitochondriales

    This Organisation was last updated 25 July 2019

  • Emma Del-Rey

    Emma Del-Rey has a daughter who was diagnosed with Mitochondrial Disease. Since 2008, she is the Vice-Chair of AMMI, a French Mitochondrial Disease Organisation.

    This Contact was last updated 4 January 2022

  • Mencía de Lemus Belmonte

    Mencía de Lemus Belmonte is the mother of two children with Spinal Muscular Atrophy.

    This Contact was last updated 4 January 2022

  • FundAME

    This Organisation was last updated 25 July 2019

  • APN – Portuguese Neuromuscular Association

    This Organisation was last updated 25 July 2019

  • Joaquim Brites

    Joaquim Brites has a 28 year-old son with Duchenne Muscular Dystrophy. Joaquim Brites has been involved with APN, a Portuguese neuromuscular association, for more than 20 years.

    This Contact was last updated 25 July 2019

  • Angyalszarnyak – Hungarian Muscle Dystrophy Association

    This Organisation was last updated 25 July 2019

  • David Stephenson

    David Stephenson is the Neuromuscular Policy and Engagement Officer at Muscular Dystrophy UK.

    This Contact was last updated 4 January 2022

  • ALS Liga Belgium

    This Organisation was last updated 25 July 2019

  • Italian Association against Dysimmune Neuropathies

    This Organisation was last updated 24 July 2019

  • Duchenne Parent Project Spain

    This Organisation was last updated 24 July 2019

  • Marisol Montolio

    With more than 15 years of research experience, Marisol Montolio is the Scientific Director of the Duchenne Parent Project Spain and Curator of the Patient Registry, promoting scientific research in Duchenne and Becker Muscular Dystrophy.

    This Contact was last updated 29 November 2021

  • Madelon Kroneman

    Madelon Kroneman was diagnosed with Myofibrilar Myopathy (Desminopathy). Her disease started at the age of 33. She is presently a member of the diagnosis working group “Muscular dystrophies and distal myopathies” of Vereniging Spierziekten Nederland, a Dutch neuromuscular patient organisation.

    This Contact was last updated 29 November 2021

  • Spierziekten Nederland

    This Organisation was last updated 14 May 2020

  • MDA Hellas

    This Organisation was last updated 24 July 2019

  • Ria Broekgaarden

    Ria Broekgaarden is a representativeof Vereniging Spierziekten Nederland (VSN), a Dutch neuromuscular patient organisation. She coordinates diagnostical bound groups and is a project leader for SMA, Pompe Disease and Duchenne Muscular Dystrophy.

    This Contact was last updated 30 November 2021

  • Dimitrios Athanasiou

    Dimitrios Athanasiou founded the Parent Project of MDA HELLAS in Greece. Currently, he is a Board Member of the United Parent Project Muscular Dystrophy (UPPMD), a European Medicines Agency Patient Expert in Duchenne Muscular Dystrophy, and co-chairs EFGCP’s Children’s Medicine Working Party (CMWP).

    This Contact was last updated 23 November 2021

  • Patient focussed summer newsletter now available

    We are delighted that our patient focussed summer newsletter is now available to read. In this special newsletter you will find out about the Network’s Patient Advisory Board, and their all-pervasive role throughout the Network. There are interviews wi …

    This Post was last updated 24 July 2019

  • EURO-NMD 3rd Annual Meeting

    6-8 November 2019 This year’s annual meeting was attended by approximately 100 people and was held in Ferrara, Italy. Download the final agenda for this meeting   Example cases to be discussed at this meeting Novel mutations in the ADCY6 gene asso …

    This Event was last updated 2 August 2022

  • Muscle Magnetic Resonance Imaging: Implementing muscle MRI as a diagnostic tool for rare genetic myopathy cohorts MRI

    Organisers: Prof. V. Straub (UK), Prof. J. Díaz Manera (Spain), Dr G. Tasca (Italy) and Dr J. Warman Chardon (Canada)

    This Event was last updated 11 July 2019

  • Clinical trial readiness in nemaline myopathy

    Clinical trial readiness in nemaline myopathy caused by mutations in the nebulin and actin (ACTA1) genes Organisers: Prof. L. Servais (France), Prof. C. Wallgren-Pettersson (UK), Prof. C. Bönnemann (USA)

    This Event was last updated 24 July 2019

  • TREAT-NMD Expert Masterclass in Spinal Muscular Atrophy

    Applications open! We are thrilled to announce that TREAT-NMD is now accepting applications for the 2nd masterclass in spinal muscular atrophy (SMA). It will take place at the Royal Society of Medicine, London, UK on Tuesday 29th and Wednesday 30th Oct …

    This Event was last updated 16 July 2019

  • International Society of Peripheral Neurophysiological Imaging

    This conference features clinicians and researchers from six continents. A wide range of specialties is represented, including neurology, radiology, physiatry, rheumatology, orthopedic surgery and many more. Our academic interest centers on integration …

    This Event was last updated 10 July 2019

  • Quality assurance, variant interpretation and data management in the NGS diagnostics era

    This first 3-day residential training course on “Quality assurance, variant interpretation and data management in the NGS diagnostic era” will host 20 participants. The course will build on expertise gained by EuroGentest and help in the translation of …

    This Event was last updated 18 June 2019

  • EURO-NMD Survey

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    This Page was last updated 17 June 2019

  • Test video

    This Page was last updated 10 June 2019

  • EAN and EURO-NMD establishes memorandum of understanding

    We are delighted to announce that our EURO-NMD has established a Memorandum of Understanding with the European Academy of Neurology. The exciting and natural synergy will help raise the profile of rare neuromuscular diseases throughout the community an …

    This Post was last updated 10 June 2019

  • International Summer School on Rare Disease Registries and FAIRification of Data ONLINE!

    Registration for this course is open, deadline is 19 July. The course will be online on 28 September – 2 October. On the first three days module, the participants will learn (a) the resources needed for the establishment/maintenance of a high quality r …

    This Event was last updated 26 June 2020

  • Linking up all those data: why should we make data FAIR

    Marco Roos, Leiden University Medical Center, The Netherlands Wednesday 26 September 2018 This video will explain what makes data Findable, Accessible, Interoperable and Reusable (FAIR) and why it is critical that different types of information, such a …

    This Event was last updated 1 October 2019

  • Finding registries and biosamples in just a few clicks: RD-Connect Registry & Biobank Finder and Sample Catalogue

    Mary Wang, Fondazione Telethon, Milan, Italy Tuesday 18 September 2018 This video demonstrates how to use two tools that will help you quickly identify patient registries in Europe and beyond that hold data on your disease of interest. They also let yo …

    This Event was last updated 1 October 2019

  • Genomic analysis quick and easy: RD-Connect Genome-Phenome Analysis Platform

    Steven Laurie, Centro Nacional de Análisis Genómico, Barcelona, Spain Thursday 6th September 2018 This video will demonstrate how to use the powerful and user-friendly analysis tools in the GPAP to interpret, filter and prioritise your variants to iden …

    This Event was last updated 1 October 2019

  • AMYLOID NEUROPATHIES: UPDATE IN 2019

    This webinar was delivered on Thursday 18th April 2019 by Professor David Adams from Bicêtre, Paris. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the Europ …

    This Event was last updated 4 January 2021

  • CPMS Webinar: FAQ & A

    The CPMS webinar was presented by the CPMS Support DG SANTE looked at questions which are frequently asked by CPMS users. The webinar took place on 23rd May at 14:00 (CET) Download a recording of this webinar. Joint webinar series by the European Refer …

    This Event was last updated 20 January 2020

  • MITOCHONDRIAL DONATION

    This webinar will be presented by Professor Robert McFarland from Newcastle University in the UK. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

    This Event was last updated 4 January 2021

  • DIAGNOSTIC IMAGING IN NMD: THE BASICS

    This webinar was delivered by Pierre Carlier from the Institut de Myologie on 24th October 2019. Joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European …

    This Event was last updated 4 January 2021

  • Neuromuscular Webinars

    EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field. Each webinar lasts approximately one hour with the opportunity for viewers to ask questions on the …

    This Page was last updated 26 July 2022

  • Meeting Report from Myology 2019

    Overview Myology 2019, was the sixth edition of the international congress of myology organized by AFM-Telethon, took place in Bordeaux, France, from March 25 to 28. More than 800 researchers and scientific experts from 35 countries worldwide gathered …

    This Post was last updated 10 April 2019

  • 2019 Semi-Annual Board members meeting

    Registration for our first semi-annual board meeting is now open. We would look forward to seeing as many EURO-NMD Board, Executive Committee and Patient Advisory Board Members as possible in Paris and encourage you to register to attend as soon as pos …

    This Page was last updated 9 April 2019

  • Translational Summer School 2019

    This year’s translational summer school has now finished. Organised in association with TREAT-NMD, this course has been especially developed for researchers and clinicians interested in translational research. The week-long course addressed the followi …

    This Post was last updated 21 October 2019

  • Share4Rare’s new video

    The Share4Rare project includes the creation of a large social network that, unlike conventional forums, incorporates proven mathematical algorithms that have been successfully used in many wider platforms that have been specifically designed to bring …

    This Post was last updated 4 April 2019

  • Euromit 2020 POSTPONED!!

    Euromit2020 has been postponed due to the COVID-19 outbreak. For further information please visit the Euromit2020 website. The largest international conference on mitochondrial disease, Euromit, will be held from 14–17th June 2020 in Newcastle/Gateshea …

    This Event was last updated 18 March 2020

  • World Muscle Society 2021

    Virtual Meeting, 21-25 September 2021

    This Event was last updated 13 July 2021

  • World Muscle Society 2020 Online

    The 25th International Congress of the World Muscle Society will be held virtually, a first for the WMS! The virtual meeting will still provide a multidisciplinary scientific forum to advance and disseminate knowledge in the neuromuscular field, with o …

    This Event was last updated 24 August 2020

  • World Duchenne Awareness Day

    World Duchenne Awareness Day is now in its sixth year with events around the world. The World Duchenne Organization (WDO) have created an awareness campaign ‘Together, we are stronger’ where they show that even in the COVID emergency, they can turn neg …

    This Event was last updated 3 September 2020

  • EURO-NMD Webinar – Diagnosis & treatment of CIDP associated to antibodies against node of Ranvier

    EURO-NMD are inviting you to a webinar presented by Dr Emilien Delmont on the subject of Diagnosis and treatment of CIDP associated to antibodies against node of Ranvier, the details are below. The webinar will take place on Thursday 21st March 2019 at …

    This Post was last updated 29 March 2019

  • DIAGNOSIS AND TREATMENT OF CIDP ASSOCIATED WITH ANTIBODIES AGAINST NODE OF RANVIER

    EURO-NMD delivered a webinar presented by Dr Emilien Delmont on the subject of Diagnosis and treatment of CIDP associated to antibodies against node of Ranvier, the details are below. The webinar took place on Thursday 21st March 2019 at 13:00-14:00 (G …

    This Event was last updated 4 January 2021

  • Database of shared samples…

    …through deposition at biorepositories & omics data with associated phenotypic data via submission to databases & RD-Connect   Rare disease research area has a significant demand for the biological samples and associated phenotype and ge …

    This Page was last updated 8 March 2019

  • Action Duchenne Annual International Conference 2019

    We welcome researchers, scientists, clinicians, healthcare professionals and Duchenne families from all over the world. UK’s biggest and best conference for Duchenne to meet the people working hard behind the scenes to find treatments for Duchenne. Mee …

    This Event was last updated 29 July 2019

  • GNE myopathy workshop report – publication now available

    Participants of the 237th ENMC workshop which was held in June 2018, reviewed the current medical and scientific knowledge relevant to GNE myopathy to achieve a better understanding of GNE myopathy epidemiology, phenotype and genetics. They agreed on a …

    This Post was last updated 7 March 2019

  • Rare Disease Day 2019!

    Rare Disease Day 2019!! Find out what happened in February by visiting the Rare Disease Day website People around the world are joining the global movement for rare diseases by taking part in the #ShowYourRare campaign, holding events and raising aware …

    This Post was last updated 28 March 2019

  • CPMS

    Clinical Patient Management System (CPMS)

    The Clinical Patient Management System (CPMS) aims at supporting ERNs in improving the diagnosis and treatment of rare or low prevalence complex diseases across national borders of Member States in Europe. The system enables healthcare professionals to …

    This Page was last updated 27 June 2022

  • Collabotrative Platform

    Collaborative Platform

    The Collaborative Platform is used to share information relating to EURO-NMD such as agendas, events, minutes and Healthcare Provider Information. It’s important for ERN members to be a part of the platform in order to keep up to date and have access t …

    This Page was last updated 3 February 2021

  • EURO-NMD Webinars OLD

    EURO-NMD provide educational webinars on a monthly basis to increase the knowledge around different specialist areas related to the neuromuscular field. Each webinar lasts approximately one hour with the opportunity for viewers to ask questions on the …

    This Page was last updated 22 May 2019

  • How ERNs are approved?

    EU Member States play the lead role in the designation and development of European Reference Networks. To achieve ERN status, network members applied to a Call from the European Commission. This application was assessed by an Independent Assessment Bod …

    This Page was last updated 28 February 2019

  • Adding value for patients and professionals

    Patients with rare and complex diseases can spend years without a clear diagnosis. It can be a frustrating and dispiriting experience for patients and their families. Many people living with these conditions are children whose development is severely a …

    This Page was last updated 28 February 2019

  • What are ERNs?

    To review a patient’s diagnosis and treatment, ERN coordinators convene ‘virtual’ advisory boards of medical specialists across different disciplines, using a dedicated IT platform and telemedicine tools. ERNs offer the potential to give patients and d …

    This Page was last updated 28 February 2019

  • Why rare diseases?

    Between 5 000 and 8 000 rare diseases affect the daily lives of around 30 million people in the EU. For example, in the field of oncology alone, there are almost 300 different types of rare cancers and each year more than half a million people in Europ …

    This Page was last updated 28 February 2019

  • CPMS Helpdesk

    A EURO-NMD CPMS Helpdesk website has been set up in order to assist with any queries or problems users may experience when trying to use the system. Enter a support ticket in the below form, please. [iphorm id=”39″ name=”CPMS support request”] We will …

    This Page was last updated 18 July 2022

  • Accessing and Using the CPMS

    Requesting Access Using the CPMS Training version of the CPMS ERN Database/Registries – Researcher Role Guest Access to CPMS Requesting Access to the CPMS There are several steps involved before a user can gain access to the CPMS. In order to request a …

    This Page was last updated 18 January 2022

  • Imaging in Neuromuscular Disease 2019

    This interdisciplinary conference will be held in Berlin from Sunday 17th to Tuesday 19th of November 2019. The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in all aspects of muscle …

    This Event was last updated 31 January 2019

  • ERNs feature in new European Commission campaign

    European Reference Networks are beginning to have a real impact on the day to day lives of people across Europe who are living with rare diseases. The video below forms part of the awareness raising campaign #EUProtects. Through the EU’s epilepsy healt …

    This Post was last updated 28 January 2019

  • RE(ACT) Congress 2019

    The RE(ACT) Congress – International Congress on Research of Rare and Orphan Diseases – was initiated in 2012 by the BLACKSWAN Foundation to create a forum for and promote scientific cooperation and research on rare and orphan diseases. The Congress ai …

    This Event was last updated 31 January 2019

  • LUMC

    This Organisation was last updated 18 January 2019

  • Peter-Bram t Hoen

    Peter-Bram ‘t Hoen’s bioinformatics research group develops computational approaches that exploit molecular -omics data in combination with clinical data to better understand disease mechanisms and to advance patient diagnosis and stratification for therapeutic and life style interventions.

    This Contact was last updated 3 December 2021

  • Baziel van Engelen

    Baziel van Engelen, MD, PhD is professor in neuromuscular diseases and is working as a neurologist at the Radboud University Medical Centre since 1996. He has had a strong interest in neuromuscular diseases, especially myotonic dystrophy, facioscapulohumeral dystrophy, oculopharyngeal spierdystrophy, inclusion body myositis and neuralgic amyotrophy. Currently he is head of the neuromuscular section at the Neuromuscular Centre Radboudumc and a board member of the Netherlands Neuromuscular Centre. He was member of various scientific advisory boards: Muscular Dystrophy UK, FSH Global, Italian Telethon, Scientific Panel Translational Neurology of the European Academy of Neurology, and is co-chair of the research working group of EURO-NMD, and board member of the European Network of reference centres for rare neuromuscular diseases.

    This Contact was last updated 22 November 2021

  • Institute of Myologie

    This Organisation was last updated 18 January 2019

  • Gisele Bonne

    This Contact was last updated 3 December 2021

  • Catholic University School of Medicien

    This Organisation was last updated 18 January 2019

  • Inselspital Bern University Hospital

    This Organisation was last updated 18 January 2019

  • University of Gothenburg

    This Organisation was last updated 18 January 2019

  • University Federico II of Naples

    This Organisation was last updated 18 January 2019

  • Jean-Philippe Plançon

    Jean-Phillipe Plançon has been living with a rare peripheral neuropathy since 2000. He founded the French Association against Peripheral Neuropathies in 2006 and is co-founder of the French Alliance of Rare Peripheral Neuropathies Patients Associations.

    This Contact was last updated 29 November 2021

  • Anders Oldfors

    This Contact was last updated 23 November 2021

  • Giorgio Tasca

    This Contact was last updated 29 November 2021

  • Olivier Scheidegger

    This Contact was last updated 1 March 2022

  • Robert-Yves Carlier

    This Contact was last updated 4 January 2022

  • Pieter van Doorn

    This Contact was last updated 30 November 2021

  • Nadine van de Beek

    This Contact was last updated 4 January 2022

  • Benedikt Schoser

    This Contact was last updated 29 November 2021

  • Camiel Verhamme

    This Contact was last updated 23 November 2021

  • Florence Duguet

    This Contact was last updated 4 January 2022

  • Evy Reviers

    Evy Reviers is the daughter of a patient living with Amyotrophic Lateral Sclerosis (ALS). As Chief Executive Officer of ALS Liga Belgium since 2006, Evy Reviers performs the general management of the organisation and coordinates the support to Belgian ALS patients.

    This Contact was last updated 23 November 2021

  • MDF Annual Conference 2019

    Information about the conference will be available in due course. If you have any questions in the meantime please contact MDF at 415-800-7777 or via email.

    This Event was last updated 16 January 2019

  • Official report from 4th European Reference Network Conference now available

    Health professionals, researchers, patient organisations and policymakers gathered in Brussels on 21 & 22 November for the 4th European Reference Networks Conference. The well-attended and lively event featured two full days of presentations and debate …

    This Post was last updated 15 January 2019

  • RD-Connect Webinars

    We are delighted to announce that the series of RD-Connect webinars are now available online. As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs. Thes …

    This Page was last updated 10 January 2019

  • General Information: EURO-NMD Annual Meeting 2018

    This post is dedicated to providing some general information regarding the EURO-NMD Annual Meeting 2018 including travel options, nearby facilities and accommodation. When: 29th November-30th November 2018 Where: Motol University  Hospital, V …

    This Post was last updated 18 December 2018

  • XXIV World Congress Of Neurology-WCN 2019

    Join The XXIV World Congress of Neurology (WCN 2019) taking place in Dubai, United Arab Emirates on October 27 – 31 2019, hosted by the Emirates Neurology Society. The EMINS is the largest neurology organisation in United Arab Emirates and regularly ho …

    This Event was last updated 27 August 2019

  • 24th International Annual Congress of the World Muscle Society

    The World Muscle Society are delighted to invite you to attend the 24th WMS annual congress, which will be held in the heart of Copenhagen in the old Tivoli Garden Concert Hall and adjoining buildings. Join WMS for the networking reception to be held o …

    This Event was last updated 30 October 2018

  • Translational Summer School

    Our annual summer school, which in association with TREAT-NMD, is especially developed for researchers and clinicians interested in translational research. The week-long course addresses the following aspects as it travels along this established pathwa …

    This Page was last updated 3 October 2019

  • 13th European Paediatric Neurology Society (EPNS) Congress 2019

    Further details about this year’s EPNS meeting will appear here in due course. Important dates to remember On-line Registration opens: 15 June 2018 On-line Abstract submission opens: 17 September 2018 Abstract submission deadline: 4 February 2019

    This Event was last updated 19 October 2018

  • Submit Clinical Case Abstract 2018

    Abstract submission has now been closed to allow us to prepare for the upcoming meeting.  

    This Page was last updated 21 November 2018

  • RD-Connect webinars now available online

    We are delighted to announce that the series of RD-Connect webinars are now available online. As part of a close working relationship between EURO-NMD and RD-Connect three informative webinars were organised for those researchers involved in ERNs. Thes …

    This Post was last updated 18 December 2018

  • RD-Connect

    RD-Connect: an integrated platform for rare disease research RD-Connect is an EU-funded platform that enables researchers and clinicians easily access, analyse and exchange information about rare diseases. By connecting different data types – omics (e. …

    This Page was last updated 22 August 2019

  • Solve-RD

    Solve-RD is a large European research project funded by the EU for five years (2018-2022) under Horizon 2020. The consortium will work directly with four European reference networks (ERNs) to improve the diagnosis of rare diseases. The main ambitions a …

    This Page was last updated 22 August 2019

  • TREAT-NMD

    TREAT-NMD is a network for the neuromuscular field that provides an infrastructure to ensure that the most promising new therapies reach patients as quickly as possible. Since its launch in January 2007 the network’s focus has been on the development o …

    This Page was last updated 22 August 2019

  • 30th International Symposium on ALS/MND

    The key to defeating MND lies in fostering strong collaboration between leading researchers around the world, and sharing new understanding of the disease as rapidly as possible. This was the MND Association’s rationale behind the creation of the Inter …

    This Event was last updated 11 November 2019

  • RD-Connect announces educational webinars for ERN Stakeholders

    As part of a close working relationship between EURO-NMD and RD-Connect we are delighted to announce a series of highly relevant and informative webinars for any researchers who are involved in an ERN. RD-Connect enables scientists and clinicians aroun …

    This Post was last updated 18 December 2018

  • Funding Opportunities

    When we become aware of any upcoming funding opportunities that we think might be of interest they will included here. Currently we are unaware of any funding calls.

    This Page was last updated 19 December 2019

  • 6th TREAT-NMD International Conference

    The previous two TREAT-NMD conferences which focused on translational medicine in inherited neuromuscular diseases were complete sell outs. The aim of this upcoming international conference is to share progress and lessons learned in the area of transl …

    This Event was last updated 16 October 2019

  • Recommended Guidelines

    Our network group members have currently identified the follow guidelines that they regularly rely upon and find very valuable for many aspects of their day to day work. This list below (which you can filter by disease) is under constant review as we a …

    This Page was last updated 4 November 2021

  • Neuromuscular Summer School 2018 – Report

    The first Neuromuscular Translational Summer School was devised and developed by Professor Annemieke Aartsma-Rus (LUMC, Netherlands and Newcastle University, UK), Silvere van der Maarel, (LUMC, Netherlands) and Dr Teresinha Evangelista (Newcastle Unive …

    This Post was last updated 19 July 2018

  • Voting for Italian Coordinator

    Voting closed on 16th July (noon – CET).  

    This Page was last updated 16 July 2018

  • Test home

    This Page was last updated 26 June 2018

  • Kate Bushby announces her retirement

    After 29 years at Newcastle University, Professor Katie Bushby MD FRCP has announced her retirement as Professor of Neuromuscular Genetics and as coordinator of our ERN from the end of May 2018. Whilst her presence will be hugely missed, Katie’s influe …

    This Post was last updated 18 December 2018

  • Sorry to see you go

    Thanks for getting back to us – we’re sorry to see you go. Don’t  forget you can always chnage your mind by resubscribing or accessing our newsletters via the website instead.

    This Page was last updated 23 May 2018

  • Share4Rare hosts co-creation workshop

    Share4Rare hosted a co-creation workshop on Friday 18th May at MDA Hallas in Athens, Greece. Content for the S4R platform was reviewed by patients and patient advocates for content and readability. Based on a socially innovative approach, and building …

    This Post was last updated 1 August 2019

  • Thanks for consenting

    Thanks for consenting to receive the EURO-NMD newlsetter which we aim to send out about once a month. Please note: this consent only is applicable for our newsletter and therefore will only be used for this purpose. Don’t forget you can always unsubscr …

    This Page was last updated 2 May 2018

  • Overview of Patient Participation in EURO-NMD

    Reference Centres’ efforts being directed toward patients it is evident that ERNs would not find their legitimacy without involving them. In fact, patient representatives are involved in all aspects of governance, ethics, research, teaching and care in …

    This Page was last updated 18 July 2022

  • Summer School Programme now available

    A more detailed version of our translational summer school programme is now available on our website. We are still accepting applications for our summer school, which is run in association with TREAT-NMD which will be held in Newcastle 2-6 July 2018. S …

    This Post was last updated 18 December 2018

  • Privacy policy

    This website is hosted, maintained and developed by some of the staff at the Sorbonne University – Pitié Salpêtrière Hospital – Assistance Public Hopitaux de Paris who work on this project. This page explains when and why we collect personal informatio …

    This Page was last updated 21 February 2022

  • Jan Verschuuren

    Jan Verschuuren is working as a clinical neurologist at the Leiden University Medical Centre (LUMC) since 1995. He always has had a strong interest in neuromuscular diseases, especially myasthenia gravis, and Duchenne and Becker muscular dystrophy. Currently he is head of the clinical neuromuscular section, as well as head of the department of Neurology, at the Leiden University Medical Center.

    This Contact was last updated 29 November 2021

  • Leiden University Medical Center

    This Healthcare Provider was last updated 3 September 2020

  • Care and Trial Site Registry

    One of the major organizational hurdles to overcome before initiating a clinical trial is identifying those trial sites capable of recruiting enough patients and offering a specific standard of care and experience in clinical trials. The concept of est …

    This Page was last updated 2 May 2018

  • Press release following the rare diseases day and 1 year anniversary of ERNs

    The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission: connect patients with …

    This Post was last updated 29 March 2019

  • Academic articles

    Our network board members have spotlighted the academic articles included below which have been peer reviewed and published in various reputable journals. They have been specifically chosen for their academic merit and their practical use for the wider …

    This Page was last updated 16 March 2018

  • Family Care

    Our network is currently in the process of identifying and subsquently targeting a number of areas where the development and implementation of standarised protocols and guidelines would most benefit the neuromuscular community. In addition to developin …

    This Page was last updated 10 July 2019

  • Networks of Note

    We would like to highlight the following projects and networks. We believe they will be influential in the community’s future research environment.          

    This Page was last updated 22 August 2019

  • Job Vacancies

    Any upcoming job opportunities that we think might be of interest will included here. The European Reference Network (ERN) EURO-NMD is looking for a : Senior Project Manager (M/F) ERN EURO-NMD The network brings together 84 highly specialized multidisc …

    This Page was last updated 25 July 2022

  • Accommodation in Newcastle

        Hotel Description Rate External Link   The Caledonian Hotel Osborne Road Jesmond Newcastle upon Tyne NE2 2ATTel: 0191 281 7881Fax: 0191 281 6241Email: info@caledonian-hotel-newcastle.com The Caledonian hotel Newcastle, is located in the heart …

    This Page was last updated 27 February 2018

  • Position statement from the ERN Coordinators

    Released on 28 February 2018 – RARE DISEASE DAY! As Coordinators of the 24 European Reference Networks (ERNs), we stand together and united with our 900 strong members (healthcare providers) and the patient community, in the fight against rare diseases …

    This Post was last updated 18 December 2018

  • Rare Disease Day 2018!

    The last day of February is Rare Disease Day. This is the day of the year above all others that as a community we try to raise awareness amongst the general public, policy makers, public authorities, industry representatives, researchers, health profes …

    This Post was last updated 18 December 2018

  • Healthcare provider resources

    This page has been created to enable our Healthcare Providers to submit information such as contact details, publication information and more, for inclusion on the network’s website via a series of online forms which are available below. Add or update …

    This Page was last updated 1 June 2020

  • Publications

    Please find below a list of publications which we think might be of interest to our network and the wider community. Currently, this is not a comprehensive list and we will be updating it on a regular basis. Publication Title (like) Journal SubmitReset …

    This Page was last updated 29 August 2018

  • Share4Rare – the project to develop a new collective awareness platform for social innovation launches!

    Based on a socially innovative approach, and building on citizen science and collective intelligence, the Share4Rare Project will engage and connect all relevant stakeholders towards improving quality of life, disease management and collection of scien …

    This Post was last updated 18 December 2018

  • Test feed

    Feed information goesin here

    This Page was last updated 7 February 2018

  • Friday 6th July

    10.30 – Participant presentations – chaired by Teresinha Evangelista and Silvere van der Maarel We ask each group of 3-4 participants to prepare a 10-15 minute talk Who they are and what they expected from the summer school The things they learnt How t …

    This Page was last updated 24 April 2018

  • Thursday 5th July

    Patient communication workshop Importance of patient communication     10.00 – 15.00 – Communication workshop by behavioral scientists Objective: During this workshop participants will learn about unconscious processes, association and framin …

    This Page was last updated 24 April 2018

  • Wednesday 4th July

    9.00 – Biomarkers Pietro Spitali and Andreas Roos Objective: to explain why types of biomarkers exist and how they can be used in trial planning and as outcome measures, the regulatory perspective on biomarkers, highlighting ongoing networking efforts …

    This Page was last updated 24 April 2018

  • Tuesday 3rd July

    9.00 – Feedback from TACT review session Annemieke Aartsma-Rus Objective: align on strengths and weaknesses and outstanding questions identified by the groups   Session 2 – Clinical trials   9.30 – Introduction to clinical trials Michela Gugl …

    This Page was last updated 23 April 2018

  • Monday 2nd July

    11.00 – Arrival and registration 11.30 – Welcome Teresinha Evangelista and Annemieke Aartsma-Rus 11.45 – Brief round of introduction 12.15 – Lunch Session 1: Translational lifecycle 13.00 – Overview of bench to bedside research Annemieke Aartsma-Rus Ob …

    This Page was last updated 17 May 2018

  • Apply now

    Please complete the form below to apply for a place on our summer school in 2018. Early bird registration is available until 28th February 2018. Early bird registration – €400 Standard registration – €500 We will be in touch in due course to let you kn …

    This Page was last updated 12 January 2018

  • Nemo Clinical Center

    This Healthcare Provider was last updated 27 July 2018

  • Valeria A Sansone

    This Contact was last updated 30 November 2021

  • What to do in and around Newcastle

    Whilst you’re in the area you might want to spend a few days longer here and explore this part of the world. Newcastle and Gateshead offers a wealth of diverse activities for those visiting the region. From visiting arts and cultural venues to sampling …

    This Page was last updated 11 January 2018

  • Programme Committee

    Annemieke Aartsma-Rus Leiden University Medical Center – Netherlands & Newcastle University – UK Teresinha Evangelista Newcastle University – UK Silvere van der Maarel Leiden University Medical Center – Netherlands

    This Page was last updated 9 January 2018

  • Programme

    2nd-6th July Institute of Genetic Medicine Newcastle University Newcastle-upon-Tyne UK Download our finalised summer school programme at a glance Monday 2nd July Translational lifecycle Bench to bedside research Preclinical research tools Regulatory sy …

    This Page was last updated 22 June 2018

  • Apply for a place

    Please complete the form below to apply for a place on our summer school in 2018. Standard application fee – €500 (meals and materials included) Applications for the 2018 Summer School are now closed Please note – you will be responsible for booking an …

    This Page was last updated 25 June 2018

  • Our Translational Summer School 2018

    Our first ever summer school was a course was especially developed for researchers and clinicians interested in translational research. This course addressed the following aspects as it travels along this established pathway. Bench to bedside research …

    This Page was last updated 19 October 2018

  • Venue

    Newcastle University Ridley 2 Building Lovers Lane Newcastle upon Tyne NE2 4AA – United Kingdom   Getting to Newcastle By Air Located 13km (8miles) north of the city centre Newcastle Airport is served by many airlines providing direct links from c …

    This Page was last updated 7 June 2018

  • EURO-NMD presents about care guidelines at TREAT-NMD Conference

    As part of the care session in the TREAT-NMD conference Teresinha Evangelista talked about how our ERN can help develop and implement care guidelines for neuromuscular diseases. After a quick overview, Teresinha looked at how the ERN reduces geographic …

    This Post was last updated 12 January 2018

  • Sabrina Sacconi

    Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases.

    This Contact was last updated 30 November 2021

  • CHU Nice

    This Healthcare Provider was last updated 8 December 2017

  • Shahram Attarian

    Head of referenece center for neuromusculars disorders ans ALS Coordinator of reference centers of PACA- Réunion-Rhôn-Alpes (Marseille , Lyon, Nice, Saint Etienne , Reunion island) MD, PhD

    This Contact was last updated 30 November 2021


  • 2017 Posters

    Consortium (NeMusChALS), an integrated highly specialized and collaborative structure for clinical expertise, care and translational research for neuromuscular diseases from childhood to adulthood. E-Health and Innovation to overcome barriers in neurom …

    This Page was last updated 23 November 2017

  • Prof. Vincenzo Silani MD

    This Contact was last updated 30 November 2021

  • IRCCS Istituto Auxologico Italiano

    This Healthcare Provider was last updated 7 November 2017

  • Borut Peterlin

    This Contact was last updated 4 January 2022

  • University Medical Center Ljubljana

    This Healthcare Provider was last updated 23 October 2019

  • Register for the CPMS

    [iphorm id=”7″ name=”Initial inclusion in EURO-NMD CPMS”]

    This Page was last updated 1 November 2017


  • WMS 2017 Poster

    This Page was last updated 20 October 2017

  • EURO-NMD poster highlighted at WMS

    We are delighted to announce that the EURO-NMD poster was chosen for the poster highlights session of the recent World Muscle Society conference in St Malo, France. Teresinha Evangelista presented the poster which focused on the structure, function and …

    This Post was last updated 12 January 2018

  • Update or add contact information

    [iphorm id=”6″ name=”Add or update contact information”]

    This Page was last updated 19 October 2017

  • Radboud University Medical Center

    This Healthcare Provider was last updated 5 October 2020

  • Jana Haberlová

    Jana is a paediatric neurologist based in Department of Paediatric Neurology in University Hospital Motol in Prague, Czech Republic. Jana was trained as an adult neurologist, and has now been working for 18 years as a paediatric neurologist and electrophysiologist.

    This Contact was last updated 1 December 2021

  • Faculty Hospital Motol

    This Healthcare Provider was last updated 10 October 2017

  • Anna Kostera-Pruszczyk

    This Contact was last updated 22 November 2021

  • SPCSK, Medical University of Warsaw

    This Healthcare Provider was last updated 23 October 2019

  • Coordination Team of EURO-NMD

    The EURO-NMD coordination team are based in Pitié Salpêtrière Hospital in Paris, France. The team is led by EURO-NMD coordinator Tesresinha Evangelista.   Teresinha Evangelista – EURO-NMD Coordinator Sorbonne University – Pitié Salpêtrière H …

    This Page was last updated 13 January 2022

  • We’ve published our first newsletter!

    We are delighted to announce that we have recently published our first newsletter which was sent out directly to over 200 people. We aim to publish our newsletter monthly to highlight recent ERN developments around both the network and platforms. We wi …

    This Post was last updated 12 January 2018

  • University Medical Centre Utrecht

    This Healthcare Provider was last updated 14 August 2017

  • Ulrike Schara-Schmidt

    Ulrike Schara-Schmidt is a paediatric neurologist at the university hospital in Essen, Germany. She has a long-standing clinical interest in muscle disorders and CMS. She has recently started to build a patient registry for CMS in collaboration with TREAT-NMD.

    This Contact was last updated 1 December 2021

  • Wolfgang Mueller-Felber

    Board certified neurologist, psychiatrist, pediatrician, child neurologist. Work in the neuromuscular field since 1985. Since 2007 Head of the centre of pediatric neuromuscular diseases at the v. Hauner children hospital, University of Munich. Since 1985 working in the field of neuromuscular diseases (adult and pediatric)

    This Contact was last updated 30 November 2021

  • Department of Pediatric Neurology, Dr. v. Hauner Children’s Hospital

    This Healthcare Provider was last updated 3 August 2017

  • J. Andoni Urtizberea

    J. Andoni URTIZBEREA, (MD, MSc), aged 62, is certified in paediatrics and PMR (physical medicine and rehabilitation) from Paris University, France. He also graduated from the Institut d’Etudes Politiques de Paris in 1987 cum magna laude. As Scientific Director of the European Neuromuscular Center (ENMC) and former Medical Director of the AFM-Telethon (the French MDA), he contributed to the establishment of many worldwide networks in myology, an emerging discipline dedicated to muscle and related disorders.

    This Contact was last updated 1 December 2021

  • Susana Quijano-Roy

    Child neurologist trained originally in Spain (Madrid). Professor of Paediatrics (University Versailles-St Quentin). Head of the neuromuscular unit at Garches Hospital. Involved notably in congenital muscular dystrophies and SMA. Member of many international consortia notably in standards of care.

    This Contact was last updated 30 November 2021

  • University Hospital Raymond-Poincaré APHP

    This Healthcare Provider was last updated 23 October 2019

  • EAN features interview with Mary Reilly

    The EAN (home of neurology) website features an inteview with Mary Reilly who is President of the Peripheral Nerve Society (PNS) and one of our Executive Committee members. In the interview Mary touches upon the exciting developments around inflammator …

    This Post was last updated 12 January 2018

  • Update Healthcare Provider Information

    [iphorm id=”3″ name=”Update HCP Information “]

    This Page was last updated 19 July 2017

  • Focusing on improving patients’ health outcomes: the role of patient organisations

    ERNs are about patients. Patient organisations and, in particular, EURORDIS, have played an active role in the development of the networks for more than a decade, helping to ensure that the priorities will be to enhance clinical excellence and to impro …

    This Page was last updated 13 July 2017

  • Frequently asked questions

    Vytenis Andriukaitis, European Commissioner for Health and Food Safety, says the value of EU collaboration is particularly clear in the case of rare and complex diseases. What inspired the creation of the European Reference Networks? We often hear trag …

    This Page was last updated 26 February 2018

  • kate Bushby

    A ray of hope for patients with rare & complex diseases, their families & doctors

    This video that originates from the Commission’s website gives a comprehensive overview of the networks whilst also introducing a number of concepts, ideas and key people. Please be aware that this video will require a large amount of data to be shown …

    This Post was last updated 14 July 2017

  • Save the date – 29-30 November

    Save the date for our meeting in Freiburg! We’re currently developing an exciting programme for this our first face to face meeting. This will be an excellent opportunity for all attendees to forge those all important new network relationships during t …

    This Post was last updated 5 August 2019

  • 3rd conference on European Reference Networks – a report

    The 3rd official European Reference Network (ERN) conference took place in Vilnius, Lithuania, on the 9th of March. The event was well attended by around 600 healthcare providers, patient representatives, policy makers and health experts. The conferenc …

    This Post was last updated 29 March 2019

  • HCP2

    Healthcare Provider Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Greece  Hungary  Ireland  Italy  Latvia  Lithu …

    This Page was last updated 5 July 2017

  • DMD Research overview

    The Duchenne muscular dystrophy (DMD) research overview section of the TREAT-NMD website is regularly updated by Annemieke Aartsma-Rus and provides information about the different therapuetic approaches to DMD. The aim of overview is to inform patients …

    This Page was last updated 18 July 2019

  • Operating procedures and protocols

    Preclinical research The preclinical phase of research is so critical to the decisions made about a possible future therapy hence, it is very important that experiments done at this stage are based on best practice. This means both choosing the most ap …

    This Page was last updated 11 February 2019

  • Accommodation

    There are a number of hotels around Freiburg that will suit a variety of budgets some of which are listed below. Please note Freiburg has a 5% accommodation tax for tourists. People staying in Freiburg for business reasons are exempt from this tax.To b …

    This Page was last updated 26 June 2017

  • Annual Meeting 2017

    On Thursday 30th November EURO-NMD held its first annual meeting in Freiburg, Germany. All our 61 healthcare providers (HCPs) from across Europe were offered a free registration along with a bursary for travel and accommodation. The remainder of the 12 …

    This Page was last updated 13 December 2017

  • Research

    Few patients with a neuromuscular condition currently benefit from effective or curative therapies, and many do not have a definite diagnosis. Uniting healthcare and research would begin to address this and is therefore in the best interests of patient …

    This Page was last updated 14 March 2018

  • Eugenio Maria Mercuri

    This Contact was last updated 23 November 2021

  • Fondazione Policlinico Universitario A. Gemelli

    This Healthcare Provider was last updated 12 June 2018

  • AFM Téléthon

    This Organisation was last updated 11 March 2020

  • 2017 Meeting

    29-30 November 2017 Merchants’ House Münsterplatz 24 79098 Freiburg im Breisgau Germany We would like to invite those of you involved in our ERN and interested parties to our first face to face meeting which will take place in the centre of historic Fr …

    This Page was last updated 20 August 2018

  • Register here

    Accommodation and travel is not included in the registration fee. Please select your ticket, pressing the ‘order now’ button will take you to Eventbrite where you can complete your registration. Powered by Eventbrite If you are a board representative f …

    This Page was last updated 3 August 2017

  • University Hospital St. Anna

    This Healthcare Provider was last updated 23 October 2019

  • Jackie Palace

    This Contact was last updated 29 November 2021

  • Davide Pareyson

    Davide Pareyson, MD, is a Clinical Neurologist working at the Fondazione IRCCS Istituto Neurologico C.Besta (FINCB) of Milan, Italy, where he is Head of the Functional Department of Rare Neurological Diseases and Chief of the Simple Dept. Unit of “Rare Neurological Diseases of Adulthood”.

    This Contact was last updated 23 November 2021

  • Fondazione IRCCS, Istituto Neurologico C.Besta

    This Healthcare Provider was last updated 8 June 2017

  • Tiziana Mongini

    1981 Torino, University of Torino, MD degree; 1985 Torino, University of Torino, Board in Neurology. 1982-1983: Research fellow H.H. Merritt Clinical Research Center for Neuromuscular Diseases – Columbia University, directed by prof. S. DiMauro and L.P. Rowland, New York, USA October 1985 – September 1987: Torino, Clinica Neurologica II – University of Torino, Research Fellow February – June 1989: ‘Visiting Scientist’ H.H. Merritt Clinical Research Center for Neuromuscular Diseases – Columbia University, New York 1988 – 2000: “Assistant Professor” with clinical appointment, Department of Neurosciences, University Hospital S. Giovanni Battista di Torino 2000 to present: Neuromuscular Disorders Unit (Regional referral center, with annexed Laboratory for Neuromuscular Diseases) Hospital “Città della Salute e della Scienza di Torino” 2012 to present: Associate Professor in Neurology, Department of Neurosciences ‘Rita Levi Montalcini’, University of Torino, Italy 2000: Founder Member of the Italian Association of Myology; 2000-2006 Secretary; 2006-2009 President 2007-2011: President of the National Scientific Committee of the Italian Association for Muscular Dystrophy (UILDM) 2012-2015: Chair of Muscle Panel, EFNS (European Federation of Neurological Societies) 2016-to present: member of the Scientific Panel on Muscle and Neuromuscular Junction Disorders of EAN (European Academy of Neurology) Since 1982, the main fields of interest included the diagnostic and assistential processes for patients with neuromuscular disorders, in particular muscular dystrophies, metabolic myopathies, congenital myopathies and dystrophies, congenital myasthenia, SMA. The main field of research has concerned neuromuscular disorders (clinical trials, genotype-phenotype correlations, advanced diagnostic procedures and protocols, biochemical features) , as demonstrated by 118 full papers published on covered journals and the active participation in many national and international congresses as invited speaker.

    This Contact was last updated 4 January 2022

  • Azienda Ospedaliera Universitaria Città della Salute e della Scienza di Torino

    This Healthcare Provider was last updated 23 October 2019

  • Adriano Chio

    This Contact was last updated 5 April 2022

  • Gauthier Remiche

    This Contact was last updated 19 July 2022

  • Centre de Référence Neuromusculaire Erasme-HUDERF

    This Healthcare Provider was last updated 19 July 2022

  • Antonio Toscano

    This Contact was last updated 22 November 2021

  • University of Messina

    This Healthcare Provider was last updated 6 June 2017

  • Disease Treatment

    Effective treatment of NMDs requires a multidisciplinary team experienced in the specific clinical needs of the conditions. With this in mind the following ‘sub-groups’ have been formed: muscle, nerve, motor neuron, mitochondrial and neuromuscular junc …

    This Page was last updated 28 June 2017

  • Diagnosis

    Often patients often don’t manage to get an accurate diagnosis in a reasonable time frame, something which can impact on survival and quality of life. Even patients with a condition diagnosable with existing gene tests typically wait 7 years for diagno …

    This Page was last updated 4 November 2020

  • Leonard van den Berg

    Leonard H. van den Berg is a professor of neurology who holds a chair in experimental neurology of motor neuron diseases at the University Medical Center Utrecht in the Netherlands. He also is director of the center’s Laboratory for Neuromuscular Disease, director of the Netherlands ALS (amyotrophic lateral sclerosis) Center, chairman of the Neuromuscular Centre the Netherlands, and chairman of the European Network to Cure ALS (ENCALS), a network of the European ALS Centres.

    This Contact was last updated 29 November 2021

  • Marianne de Visser

    Marianne has been the leader of the neuromuscular group at the Academic Medical Centre in Amsterdam in the Netherlands for more than 20 years. During this time her group has contributed to research on muscular dystrophies, myositis, motor neuron diseases and hereditary neuropathies. She and others have initiated and implemented the core curriculum on neuromuscular disorders for neurologists in The Netherlands.Education: Medical Faculty: University of Amsterdam. Graduated in 1975. Training in Neurology (Academic Hospital of the University of Amsterdam) 1976-1980 PhD Thesis 1981: Becker muscular dystrophy: a neurological, cardiological and compu¬ted tomographic study. Academic Position: Neurologist, Professor of Neuromuscular Diseases since 1993, Academic Medical Centre (AMC), University of Amsterdam, The Netherlands. Publications: Over 170 publications in peer-reviewed international medical journals, mainly in the field of neuromuscular diseases (muscular dystrophies, post polio syndrome, hereditary neuropathies, myositis, motor neuron disease), and about 20 (contributions to) medical books. Editorial experience: Editorial board of Clinical Neurology and Neurosurgery, Neuromuscular Disorders. Reviewer for manuscripts from various journals (Annals of Neurology, Archives of Neurology, Neurology, Muscle & Nerve, Neuromuscular Disorders, Clinical Neurology, Neurosurgery and Psychiatry, Journal of Neurology, Human Mutation, European Journal of Neurology, Lancet Neurology) and reviewer of grants for funding organisations (Italian Telethon, Association Française contre les Myopathies, British Muscular Dystrophy Campaign, Medical Research Council, German Federal Ministry for Education and Research, E-Rare), Orphanet.

    This Contact was last updated 29 November 2021

  • Alessandra Ferlini

    Alessandra Ferlini (MD) is specialized in Medical Genetics (University of Ferrara) and Neurology (University of Bologna), and PhD in genetics (Imperial College, London). She is associate professor in medical genetics, director of the Medical Genetics Unit at the University of Ferrara (Italy), honorary visiting professor at University College of London, member of neuromuscular disease research and care networks, as TREAT-NMD Alliance, European NeuroMuscular Centre. She coordinated EU research grants on rare diseases (FINGER, BIO-NMD) and was/is full partner in other EU grants, as NMD-CHIP, SIGN, Neuromics. She is PI in innovative trials for muscular dystrophy and involved in gene discovery by omics researches. Her researches are also focused on novel nanodelivery systems for molecular therapies. She is head of the Medical Genetics Unit in Ferrara and lead the all diagnostics tasks (molecular cytogenetic s, counselling), providing molecular diagnosis for more than 120 different phenotypes, including 80 genes responsible for neuromuscular diseases. She is also involved in national and local Ethical Committees.

    This Contact was last updated 22 November 2021

  • Rita Horvath

    Rita Horvath is a clinical academic who was trained as a neurologist in Budapest, Hungary. She started laboratory research in Professor Eric Shoubridge`s laboratory at the Montreal Neurological Institute and completed her PhD on mitochondrial disease. She has been working in mitochondrial diagnostic and research in Munich before 2007, when she was appointed as Lecturer in the Mitochondrial Research Group at Newcastle University. She has established her own research group on mitochondrial translation deficiencies and obtained substantial funding from the MRC and ERC. Rita has been promoted to Professor of Neurogenetics in 2013. As a clinician, she developed a new service in Newcastle and follow up a large number of patients with inherited peripheral neuropathies (Charcot-Marie-Tooth disease, CMT), which is a base for expanding research activities. The main focus of her research is to identify the molecular basis of disease with the aim of developing treatments for patients with rare inherited neurological conditions, such as mitochondrial disease and CMT.

    This Contact was last updated 1 December 2021

  • Hanns Lochmüller

    Hanns Lochmüller, MD, FAAN, has a long-standing interest in neuromuscular disorders and translational research, and has published more than 450 articles in peer-reviewed journals. He has led successful networking and research activities such as EuroBioBank, the TREAT-NMD Alliance, the TREAT-NMD global database oversight committee, the IRDiRC interdisciplinary science committee and RD-Connect.

    This Contact was last updated 20 July 2022

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    This Page was last updated 10 May 2017

  • Andrés Nascimento

    This Contact was last updated 16 November 2021

  • Yann Pereon

    1985-1990 Medical Resident, Neurology, Assistance Publique – Hôpitaux de Paris, Paris, France. 1991-1994 Neurologist, Assistant Professor, Laboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, University Hospital, Nantes, France. 1994-1996 Post-doctoral fellow, Dept. of Physiology & Biophysics, University of Texas – Medical Branch, Galveston, Texas, USA. 1997-2004 Associate Professor of Physiology, Dept. of Physiology, Medical School, University of Nantes, Nantes. 2004-present Professor of Physiology, Dept. of Physiology, Medical School, University of Nantes, Nantes. 2006-present Head of the Laboratoire d’Explorations Fonctionnelles, Hôtel-Dieu, University Hospital, Nantes, France. 2006-Present Coordinator of the Reference Centre for Neuromuscular Diseases Nantes-Angers, University Hospital, Nantes. 2016-present Director of the Biology and Health Doctoral School of University of Nantes-Angers-Le Mans

    This Contact was last updated 30 November 2021

  • Jean-Christophe Antoine

    This Contact was last updated 29 November 2021

  • Luisa Politano

    Academic Affiliation : Department of Experimental Medicine, Section of Biology, School of Medicine, University of Campania, Naples, Italy. Present position: Associate Professor of Medical Genetics at the School of Medicine, University of Campania, Naples, Italy. Medical Doctor; Specialist in Cardiology and in medical Genetics. Field of interest: Muscular Dystrophies, myopathies and primary cardiomyopathies. Member of several scientific societies (AIM;MSM;WMS;SIGU;ESHG;ASHG) Managing Editor of Acta Myologica Referee for numerous scientific journals. Author of hundreds of papers on the field of interest.

    This Contact was last updated 29 November 2021

  • Gabriele Siciliano

    This Contact was last updated 23 November 2021

  • Elena Pegoraro

    This Contact was last updated 25 March 2022

  • Teresinha Evangelista – EURO-NMD Coordinator

    Dr Teresinha Evangelista has over 20 years’ experience working as a Neurologist and later as a Consultant at the Neurosciences Department of the Hospital de Santa Maria in Lisbon. These roles have been completed in conjunction with research work as a member of the Neuromuscular Research Unit at the Institute of Molecular Medicine as well as has ab Invited Lecturer at the Faculty of Medicine at Lisbon University in addition to a range of other teaching and advisory posts. After working in Paris, at the Unit 153 of INSERM (“Développement, Pathologie, Régénération du Système Neuromusculaire”) under the direction of Professor Michel Fardeau and having finish a post-graduation in Neuropathology has set a fully equipped Neuromuscular Laboratory at the Hospital de Santa Maria in Lisbon. The establishment of this laboratory has stimulated the activity within the field of Clinical Neuromuscular research at other facilities in Portugal. The laboratory became a Reference Laboratory for the South of Portugal. Dr Teresinha Evangelista played an important role in the development of a diagnostic network for Neuromuscular Diseases during the years working in Portugal and was appointed as President of the Portuguese Society for The Study of Neuromuscular Diseases in 2009 in recognition of status as a leading reference for Neuromuscular Diseases in Portugal. It was also appointed as a member of the “Centro Nacional Coordenador do Diagnóstico e Tratamento de Doenças Lisosomais (CNCDTDL)” – (National Centre for the Coordination on Diagnosis & Treatment of Lysosomal Disorders).

    This Contact was last updated 9 February 2022

  • Maria Judit Molnar

    Maria Judit Molnar MD, PhD, Professor of Neurology, Psychiatry, Clinical Genetics, and Clinico-pharmacology, Doctor of the Hungarian Academy of Sciences is the director of Semmelweis University’s Institute of Genomic Medicine and Rare Disorders, among others president of the Hungarian Medical College of Clinical Genetics, past president of the Hungarian Society of Clinical Neurogenetics, secretary of the Hungarian Society of Personalized Medicine, board member of the Neurogenetic and Neuromuscular Committee of the European Academy of Neurology. She was the vice-rector for Scientific Affairs at Semmelweis University (Budapest, Hungary) between 2012 and 2015, where she was also responsible for International Affairs. She has been adjunct professor at the Montreal Neurological Institute, McGill University, since 1999. Dr. Molnar is the Leader of a Challenge Group of the International Consortia of Person alized Medicine initiated by the European Commission. She is the member of the steering committee of the Association of Academic Health Centers International.

    This Contact was last updated 4 January 2022

  • Semmelweis University

    This Healthcare Provider was last updated 28 April 2017

  • Maastricht University Medical Centre+

    This Healthcare Provider was last updated 28 April 2017

  • Board Members

    The Board of the ERN was established in accordance with the procedure stipulated by the Commission Delegated Decision. It includes one representative from each healthcare provider of EURO-NMD and the patient representatives elected by the Patient Advis …

    This Page was last updated 5 April 2022

  • Educational Resources

    EURO-NMD/TREAT-NMD Neuromuscular Translational School 21 – 25 November 2022 – Leiden, Netherlands The Neuromuscular Translational School organized by EURO-NMD and TREAT-NMD focuses on therapy development from bench to bedside with a focus on neuromuscu …

    This Page was last updated 8 August 2022

  • Patient Engagement

    European Reference Networks have been established on the founding principle of patient empowerment and involvement, to improve access, safety and quality of diagnosis, care and treatment for people living with a rare or complex condition, or who requir …

    This Page was last updated 13 July 2022

  • Guidelines

    Our network is currently in the process of identifying and subsquently targeting a number of areas where the development and implementation of standarised protocols and guidelines would most benefit the neuromuscular community. In addition to developin …

    This Page was last updated 16 March 2018

  • Patient Advisory Board

    The Patient Advisory Board (PAB) is made up of eight European patient organisations, some of which have been elected through a process put in place by EURORDIS (ePAGs), while other umbrella patient organisations have been invited to join the ERN to ens …

    This Page was last updated 1 August 2022

  • Executive Committee

    The Executive Committee is responsible for the overall policy and strategic direction of the network whilst overseeing activities and progress. The committee also works closely with the Board of Heatlhcare Providers to ensure any decisions made are imp …

    This Page was last updated 5 June 2017

  • Contact us

    Please note: We can’t respond to individual patient cases from this form. Do not share any patient information through this email system. We will only use the information you send to us via this form to deal with your particular question. We will not a …

    This Page was last updated 10 August 2022

  • Kristl Claeys

    Kristl Claeys, MD, PhD, is a neurologist specialised in neuromuscular disorders working at the University Hospitals Leuven, Belgium. In Leuven, she is affiliated with the largest Neuromuscular Reference Centre in Belgium, together with her colleague and neuromuscular neurologist Philip Van Damme. Kristl Claeys is appointed as associate Professor at the University of Leuven (KU Leuven).

    This Contact was last updated 19 July 2022

  • Carmen Paradas

    This Contact was last updated 23 November 2021

  • Cornelia Kornblum

    This Contact was last updated 11 March 2022

  • Angela Kaindl

    This Contact was last updated 22 November 2021

  • Jan De Bleecker

    Jan De Bleecker is a neurologist working at the University Hospital and AZ St. Lucas Hospital in Gent, Belgium. He did his fellowship in neuromuscular diseases with Dr. Andy G. Engel at Mayo Clinic Rochester and has a longstanding main interest in the immunopathology of inflammatory myopathies, and contributed to clinical research in the field of ALS, muscular dystrophies, hereditary and inflammatory neuropathies and neurotoxicology.

    This Contact was last updated 19 July 2022

  • Ivailo Tournev

    This Contact was last updated 19 July 2022

  • Anneke van der Kooi

    This Contact was last updated 22 November 2021

  • Ans van der Ploeg

    Professor Ans T. van der Ploeg MD, PhD is Chair of the Center for Lysosomal and Metabolic Diseases at the Erasmus MC University. The center is a joined initiative of the departments of Pediatrics, (Child) Neurology, Internal Medicine, Clinical Genetics and Hospital Pharmacy to improve treatment, care and diagnosis of children and adults, to stimulate translational research, to provide education and to disseminate information. It serves as the national center of expertise for treatment with enzyme replacement therapy of patients with MPS I, MPS II, MPS VI and Pompe disease. The research performed by the center mainly focuses on lysosomal storage disorders and in particular Pompe disease, and includes clinical research as well as development of innovative therapies (Gene and cell based therapies). The Center is governor of the international Pompe mutation database www.pompecenter.

    This Contact was last updated 30 November 2021

  • Laurent Magy

    Current position: Professor of Neurology, University of Limoges, France Head of the National Reference Center for Rare Peripheral Neuropathies, Limoges, France Member of the Société Française de Neurologie Secretary of the Société francophone du nerf périphérique

    This Contact was last updated 4 January 2022

  • CHU Limoges

    This Healthcare Provider was last updated 28 April 2017

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    Erasmus MC University Medical Center

    This Healthcare Provider was last updated 30 November 2021

  • Academic Medical Centre

    This Healthcare Provider was last updated 7 June 2017

  • Hospital Sant Juan de Déu Universidad de Barcelona

    This Healthcare Provider was last updated 28 April 2017


  • University Hospital Gent

    This Healthcare Provider was last updated 19 July 2022

  • Charité – Universitätsmedizin Berlin

    This Healthcare Provider was last updated 28 April 2017

  • Hôpital Bicêtre, Hôpitaux universitaires Paris Sud AP-HP

    This Healthcare Provider was last updated 26 April 2022

  • University Hospital Bonn

    This Healthcare Provider was last updated 11 April 2019

  • Hospital Universitario Virgen del Rocío / IBiS

    This Healthcare Provider was last updated 28 April 2017

  • University Hospitals Leuven, Neuromuscular Reference Centre

    This Healthcare Provider was last updated 19 July 2022

  • Events

    Due to the ongoing coronavirus situation an increasing number of events are currently being postponed or cancelled. We will keep the event information shown here as up to date as possible however, we strongly recommend that you check directly with any …

    This Page was last updated 3 March 2020

  • Healthcare Providers

    Healthcare Provider Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Greece  Hungary  Ireland  Italy  Latvia  Lithu …

    This Page was last updated 30 March 2017

  • Newsletter

    Recent newsletters Links to our most recent newsletters can be found below Newsletter August 2022Newsletter July 2022Newsletter June 2022Newsletter May 2022Newsletter April 2022Newsletter March 2022Newsletter January 2022Newsletter December 2021Newslet …

    This Page was last updated 30 June 2017

  • Events calendar

    Due to the ongoing coronavirus situation an increasing number of events are currently being postponed or cancelled. We will keep the event information shown here as up to date as possible however, we strongly recommend that you check directly with any …

    This Page was last updated 3 March 2020

  • Jan Kirschner

    This Contact was last updated 20 July 2022

  • Juan J Vilchez

    This Contact was last updated 29 November 2021

  • Bjarne Udd

    Clinical neurologist with full time neuromuscular research since 1995 Director of the Tampere Neuromuscular Center since 2014 More than 200 international publications

    This Contact was last updated 23 November 2021

  • Antonio Federico

    This Contact was last updated 4 January 2022

  • Azienda Ospedaliera Universitaria Senese

    This Healthcare Provider was last updated 28 April 2017

  • Stanislav Vohanka

    This Contact was last updated 30 November 2021

  • University Hospital Brno, Neuromuscular Centre

    This Healthcare Provider was last updated 28 April 2017

  • Tampere University Hospital

    This Healthcare Provider was last updated 25 July 2018

  • Hospital UiP La Fe

    This Healthcare Provider was last updated 28 April 2017

  • Medical Center – University of Freiburg

    This Healthcare Provider was last updated 20 July 2022

  • University Hospital – CHU de Nantes

    This Healthcare Provider was last updated 28 April 2017

  • University Hospital of Saint-Etienne

    This Healthcare Provider was last updated 28 April 2017


  • Azienda Ospedaliero-Universitaria Pisana, U.O.C. Neurologia

    This Healthcare Provider was last updated 28 April 2017

  • Hospital de la Santa Creu i Sant Pau

    This Healthcare Provider was last updated 28 April 2017

  • Azienda Ospedaliera Padova (AOP)

    This Healthcare Provider was last updated 28 April 2017

  • Main Network Functions

    The main functions of the network will be: Provision of clinical care (traditional and non-traditional) The promotion and sustainability of good practice Organisation and management  of all relevant information/data Dissemination  of validated informat …

    This Page was last updated 31 January 2019

  • Carlo Minetti

    -1976: MD University of Genova -1976-80: Residency in Pediatrics, University of Genova, G.Gaslini Institute.

    This Contact was last updated 8 March 2022

  • Gaslini Institute

    This Healthcare Provider was last updated 28 April 2017

  • Massimiliano Filosto

    Prof. Filosto is Director of NeMO-Brescia Clinical Center and Associate Professor of Neurology at the Department of Clinical and Experimental Sciences, University of Brescia.

    This Contact was last updated 15 February 2022

  • Center for Neuromuscular Diseases, Unit of Neurology, ASST “Spedali Civili”

    This Healthcare Provider was last updated 15 February 2022

  • Bela Melegh

    This Contact was last updated 23 November 2021

  • University of Pécs

    This Healthcare Provider was last updated 19 November 2019

  • Mar Tulinius

    This Contact was last updated 4 January 2022

  • Sahlgrenska Universitetssjukhuset

    This Healthcare Provider was last updated 28 April 2017

  • Jens Schmidt

    This Contact was last updated 29 November 2021

  • Neuromuscular Center, University Medical Center Goettingen

    This Healthcare Provider was last updated 28 April 2017

  • Jochen Werner

    This Contact was last updated 10 August 2017

  • University Clinic Essen

    This Healthcare Provider was last updated 20 July 2018

  • Maggie C. Walter

    Maggie C. Walter is Associate Professor of Neurology at the Ludwig-Maximilians-University of Munich. She has trained as a neurologist at the LMU Munich, and is working at the Friedrich-Baur-Institute, the neuromuscular department of the LMU, in leading position. Furthermore, she graduated with a master degree in management of social and health institutions. Her main research interests are neuromuscular diseases, mainly muscular dystrophies, myofibrillar myopathies, inflammatory myopathies and clinical trials in neuromuscular patients. She is coordinator of the German Muscular Dystrophy Network (MD-NET), funded by the Federal Ministry of Education and Research (BMBF) since 2003, and member of TREAT-NMD, an European Network of Excellence in the 6th EU frame program for translational research in neuromuscular diseases. Since 1997, she is member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and ad hoc reviewer for several peer-reviewed journals. She is responsible for the German patient registries, the DMD, SMA, CMT, and IBM patient registries, and together with Volker Straub for the international FKRP registry.

    This Contact was last updated 29 November 2021

  • Friedrich-Baur-Institute, Dept. of Neurology, Ludwig-Maximilians-University of Munich

    This Healthcare Provider was last updated 28 April 2017

  • Josep Gamez

    Josep Gamez has worked in the Neurology Department at the Vall d’Hebron University Hospital in Barcelona since 1989 until his retirement, where his clinical work focuses on treatment of neuromuscular disorders (www.vhir.org, and https://www.neuromuscularbarcelona.org). He has been the Coordinator of the Hospital’s Neuromuscular Disorders Clinic and Director of the Peripheral Nervous System Laboratory at the Vall d’Hebron Research Institute since 2008.

    This Contact was last updated 9 December 2021

  • Hospital Universitari Vall d’ Hebron

    This Healthcare Provider was last updated 27 July 2018

  • Enrico Bertini

    Enrico Bertini, is a pediatric neurologist leading the Clinical, Diagnostic and Research Laboratory Unit of Neuromuscolar and Neurodegenerative Diseases, and the Laboratory of Molecolar Medicine of the Bambino Gesù Children’s Hospital, in Rome.

    This Contact was last updated 23 November 2021

  • Bambino Gesu’ Children’s Research Hospital IRCCS

    This Healthcare Provider was last updated 27 July 2018

  • Healthcare Providers

    Country:  Austria  Belgium  Bulgaria  Cyprus  Czech Republic  Denmark  Estonia  Finland  France  Germany  Greece  Hungary  Ireland  Italy  Latvia  Lithuania  Luxembour …

    This Page was last updated 5 November 2020

  • IRCCS Ca’ Granda Ospedale Maggiore Policlinico

    This Healthcare Provider was last updated 17 August 2020

  • Peter Van den Bergh

    This Contact was last updated 19 July 2022

  • University Hospital St-Luc

    This Healthcare Provider was last updated 19 July 2022

  • Network Partners

    1 The Newcastle upon Tyne Hospitals NHS Foundation Trust Prof Kate Bushby University Hospital UK 2 Expert Centre for Hereditary Neurologic and Metabolic Disorders, Prof Ivailo Tournev University Hospital Bulgaria 3 Sahlgrenska University Hospital Prof …

    This Page was last updated 24 January 2019

  • Network Structure

    The ERN has a ‘multi-tiered hub structure’ so that it can accommodate the associated and collaborative members as well as the existing research networks and the learned societies.   In essence, this means that although a limited number of health c …

    This Page was last updated 2 March 2022

  • About EURO-NMD

    EURO-NMD is a European Reference Network for the thematic grouping of rare neuromuscular diseases (NMDs), a broad group of related disorders that represent a major cause of mortality and lifelong disability in children and adults. NMDs are caused by ac …

    This Page was last updated 21 April 2022

  • Cookie Policy

    This site uses cookies – small text files that are placed on your machine to help the site provide a better user experience. In general, cookies are used to retain user preferences, store information for things like shopping carts, and provide anonymis …

    This Page was last updated 18 January 2018

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  • Home Neuromuscular

    We are hiring ! The European Reference Network (ERN) EURO-NMD is looking for a : Senior Project Manager (M/F) Click here for more information ! -> Read the current newsletter Newsletter August 2022             -> Who’s …

    This Page was last updated 30 June 2017

The ERNs are co-funded by the
European Union (Health Programme and CEF)

EU Commission

“EURO-NMD is one of the 24 European Reference Networks (ERNs) approved by the ERN Board of Member States. The ERNs are co-funded by the European Union (Health Programme and CEF).
For more information about the ERNs and the EU health strategy,
please visit ec.europa.eu/health/ern