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  • 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

    Diagnosis of neurological disorders has always been pivoted on precision. But nowadays we are moving much further to Precision Neurology, with its goal to synergize continuous gains of knowledge in clinical and experimental neurosciences to utmost indi …

    This Event was last updated 12 November 2020

  • 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 11 November 2020

  • 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 11 November 2020

  • 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

  • EURO-NMD requires a Project Manager

    The Insitute of Myology is looking for a Project Manager (M/F) for ERN EURO-NMD Located in Paris at the heart of the largest European hospital, Pitié-Salpêtrière, the Institute of Myology was created in 1996 by AFM-Telethon, a patient’s organization. I …

    This Post was last updated 4 November 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 23 November 2020

  • 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 10 November 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 August 2020

  • 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 12 August 2020

  • Anette Torvin Møller

    This Contact was last updated 12 August 2020

  • 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-EuroNMD) and the European Academy of Neurology (EAN). Ludger Schöls is a Professor …

    This Event was last updated 23 July 2020

  • 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-EuroNMD) and the European Academy of Neurology (EAN). Gessica Vasco is Pediatric N …

    This Event was last updated 23 July 2020

  • 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-EuroNMD) and the European Academy of Neurology (EAN). Bernhard Landwehrmeyer is a …

    This Event was last updated 23 July 2020

  • 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

  • Myasthenia Gravis

    This webinar will be delivered by Prof Isabel Leite, University of Oxford, UK. Thursday 10 December 16:00 (Paris Time) Recording of this webinar will be made available afterwards. This is part of a joint webinar series by the European Reference Network …

    This Event was last updated 5 October 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 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 10 June 2020

  • 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 10 June 2020

  • 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 10 June 2020

  • 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 25 August 2020

  • 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

    This Organisation was last updated 14 May 2020

  • CIDP Italia ONLUS

    This Organisation was last updated 14 May 2020

  • Massimo Marra

    This Contact was last updated 14 May 2020

  • 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-EuroNMD) and the European Academy of Neurology (EAN). It was delivered by Juan Dario Ortigoza-Escobar wh …

    This Event was last updated 11 November 2020

  • 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 27 May 2020

  • Patricia Blomkwist-Markens

    This Contact was last updated 14 May 2020

  • Michela Onali

    This Contact was last updated 17 August 2020

  • 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 27 July 2020

  • 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 1 July 2020

  • MHTest form page

    Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

    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

  • COVID-19 and Neuromuscular Patients

    NMD4c the neuromuscular network for Canada provides advice and information for neuromuscular patients about COVID-19. There is an abundance of information available on COVID-19, but little guidance specific to Canadians with neuromuscular disease (NMD) …

    This Post was last updated 1 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

    Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

    This Page was last updated 18 March 2020

  • NMD & COVID-19 – patient survey

    Introduction As the European Reference Network for Neuromuscular diseases we would like to increase our understanding of the effects COVID-19 has on patients with existing neuromuscular conditions. We would be grateful if you could take a few moments t …

    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 19 May 2020

  • 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 10 March 2020

  • Patrizia Garzena

    This Contact was last updated 14 May 2020

  • 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 2 March 2020

  • 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 17 August 2020

  • Janneke Hoeijmakers

    This Contact was last updated 4 February 2020

  • 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 23 November 2020

  • Inna Inashkina

    Dr.biol. Inna Inashkina is the leading researcher (the head) of the Medical Genetics and Mitochondrial Research Group in the Latvian Biomedical Research and Study Centre, Riga, Latvia. For the last couple of years, this group has been involved in Medical Genetics and Mitochondrial research projects, focused mainly on disease developmental mechanisms at the molecular level.

    This Contact was last updated 3 February 2020

  • Latvian Biomedical Research and Study Centre

    This Healthcare Provider was last updated 3 February 2020

  • 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 29 January 2020

  • 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 29 January 2020

  • 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 29 January 2020

  • Institute of Human Genetics, Medical University Innsbruck

    This Healthcare Provider was last updated 29 January 2020

  • 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

  • Personalized care for patients with ALS: ALS Home monitoring & Coaching

    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 2 November 2020

  • Exercise in neuromuscular disease – 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 29 April 2020


  • Victoria Nesbitt

    This Contact was last updated 19 December 2019

  • 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 23 September 2020

  • 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 24 November 2020

  • 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 18 December 2019

  • 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 18 December 2019

  • 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 6 February 2020

  • Translational ‘Summer’ School 2021

    We have scheduled our next ‘Summer’ School to take place in Leiden, Netherlands – 6-10 December 2021! We anticipate that our face to face school will be able to be held at this time, however are still mindful that travel for attendees and speakers migh …

    This Event was last updated 13 October 2020

  • 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 19 November 2019

  • 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 19 November 2019

  • Gineta Liutkiene

    This Contact was last updated 12 November 2019

  • Past Summer Schools

    Our annual Summer School is fast becoming an estblished 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 emersive experience for all attendees …

    This Page was last updated 27 August 2020

  • 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. Acknowledgement for ERN EURO-NMD Situation 1. ” The two (or more) of the/several author(s) of this publication is/are (a) member(s) of the …

    This Page was last updated 4 November 2019

  • 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 28 September 2020

  • 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

  • Annelies Herman – EURO- NMD Project Assistant

    This Contact was last updated 20 November 2019

  • Heike Pascal – EURO-NMD Project Manager

    This Contact was last updated 20 November 2019

  • 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 13 August 2019

  • Karolinska University Hospital

    This Healthcare Provider was last updated 13 August 2019

  • EURO-NMD Bursaries

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

    This Page was last updated 27 October 2020

  • 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 20 January 2020

  • 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 20 January 2020

  • 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

  • Dominic Wells

    Dominic Wells qualified from Cambridge University as a veterinary surgeon in 1984 together with a BA in Applied Biology. After several years in general practice in Nottinghamshire he attended the University of Wyoming where he obtained his Ph.D. in comparative physiology.

    This Contact was last updated 25 July 2019

  • 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 25 July 2019

  • 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 25 July 2019

  • 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 25 July 2019

  • 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 25 July 2019


  • 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 11 March 2020

  • Federación ASEM

    This Organisation was last updated 25 July 2019

  • Leticia San José

    Jacques Salama is the father of a young man with Duchenne Muscular Dystrophy. After his son was diagnosed with DMD in 1990, he joined the AFM-Téléthon.

    This Contact was last updated 25 July 2019

  • Jacques Salama

    This Contact was last updated 11 March 2020

  • 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 25 July 2019

  • 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 25 July 2019

  • Association Française contre l’Amylose

    This Organisation was last updated 25 July 2019

  • 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 11 March 2020

  • 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 11 March 2020

  • Rosanna Fodera

    Rosanna Fodera is the mother of a boy with a rare disease. She is the Scientific Officer of Mitocon, the Italian mitochondrial patient association promoting scientific research in mitochondrial disease and supporting mitochondrial disease patients and their families.

    This Contact was last updated 25 July 2019

  • 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 25 July 2019

  • Mencía de Lemus Belmonte

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

    This Contact was last updated 25 July 2019

  • 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

  • Bobby Ancil

    This Contact was last updated 25 July 2019

  • Judit Varadine Csapo

    Judit Varadine Csapo’s younger son was diagnosed with Facioscapulohumeral Muscular Dystrophy (FSHD) 10 years ago.

    This Contact was last updated 11 March 2020

  • Angyalszarnyak – Hungarian Muscle Dystrophy Association

    This Organisation was last updated 25 July 2019

  • Muscular Dystrophy UK

    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 March 2020

  • 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 9 March 2020

  • 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 14 May 2020

  • 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 14 May 2020

  • 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 9 March 2020

  • 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 11 November 2019

  • 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

    EURO-NMD Survey Please enter your name. Please enter your email address. What is the name of your HCP?(required) Does being a full ERN member make a change to your everyday clinics?(required) Yes No In which situations does the ERN help you with your w …

    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 20 January 2020

  • 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 3 March 2020

  • 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 20 January 2020

  • 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 7 May 2020

  • 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

    WMS 26: Prague, Czech Republic, 21-25 September 2021

    This Event was last updated 28 March 2019

  • 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 to 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 20 January 2020

  • Sabine Borell

    This Contact was last updated 4 March 2020

  • 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 28 July 2020

  • 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 28 July 2020

  • 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

    The Clinical Patient Management System is now available to use and healthcare professionals can begin using the platform. A Helpdesk website has been set up in order to assist with any queries or problems users may experience when trying to use the sys …

    This Page was last updated 30 June 2020

  • Accessing and Using the CPMS

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

    This Page was last updated 1 February 2019

  • 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

  • Phillippe Couratier

    This Contact was last updated 29 January 2019

  • Jochen Weishaupt

    This Contact was last updated 29 January 2019

  • Alex Rossor

    This Contact was last updated 5 November 2020

  • 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

    This Contact was last updated 24 January 2019

  • 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 5 October 2020

  • Institute of Myologie

    This Organisation was last updated 18 January 2019

  • Gisele Bonne

    This Contact was last updated 24 January 2019

  • 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

  • Lucio Santoro

    This Contact 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 13 August 2020

  • Anders Oldfors

    This Contact was last updated 18 January 2019

  • Giorgio Tasca

    This Contact was last updated 18 January 2019

  • Olivier Scheidegger

    This Contact was last updated 20 November 2019

  • Robert-Yves Carlier

    This Contact was last updated 23 October 2019

  • David Beeson

    This Contact was last updated 5 November 2020

  • Pieter van Doorn

    This Contact was last updated 17 January 2019

  • Nadine van de Beek

    This Contact was last updated 17 January 2019

  • Benedikt Schoser

    This Contact was last updated 17 January 2019

  • Carlos Vrins

    This Contact was last updated 16 January 2019

  • Camiel Verhamme

    This Contact was last updated 24 January 2019

  • Florence Duguet

    This Contact was last updated 12 November 2019

  • 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 9 March 2020

  • 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

  • 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 4 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 30 August 2018

  • Volker Straub

    Professor Volker Straub was founding joint co-ordinator of TREAT-NMD and is an executive board member of the World Muscle Society. He is the deputy director of the Institute of Genetic Medicine and the director of the John Walton Muscular Dystrophy Research Centre, which is supported by Newcastle University and the Newcastle Hospitals NHS Foundation Trust.

    This Contact was last updated 5 November 2020

  • 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

  • Patient representation in our network

    In the field of neuromuscular diseases, highly active patient organizations have historically been a key in the generation of disease-specific training and information material for healthcare professionals as well as patients, and in the development of …

    This Page was last updated 30 April 2018

  • 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 John Walton Muscular Dystrophy Research Centre (JWMDRC) who work on this project. This page explains when and why we collect personal information about people who visit and in …

    This Page was last updated 6 January 2020

  • 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 3 September 2020

  • 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

    When we become aware of any upcoming job opportunities that we think might be of interest they will included here. ERN Euro-NMD Project Manager Closing date – 31 December 2020 The Institute of Myology is looking for a Project Manager (M/F) for ER …

    This Page was last updated 7 August 2018

  • 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

  • Joanna Das

    This Contact was last updated 5 November 2020

  • Rebecca Leary

    This Contact was last updated 5 November 2020

  • Application for our translational summer school opens

    We are delighted to announced that applications are now being taken for our five-day summer school which will be held in Newcastle, UK 2-6th July 2018. The course has been developed for researchers and clinicians interested in translational research an …

    This Post was last updated 12 February 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 27 July 2018

  • 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

  • Alexander Rossor

    Dr Alexander Rossor is an honorary consultant neurologist at the National Hospital for Neurology and Neurosurgery, London. He is also a Wellcome Trust post doctoral clinical fellow. His clinical and research interest are the inherited peripheral neuropathies.

    This Contact was last updated 5 November 2020

  • 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 12 February 2018

  • 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 23 January 2018


  • 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 21 February 2018

  • IRCCS Istituto Auxologico Italiano

    This Healthcare Provider was last updated 7 November 2017

  • Borut Peterlin

    This Contact was last updated 23 October 2019

  • University Medical Center Ljubljana

    This Healthcare Provider was last updated 23 October 2019

  • Register for the CPMS

    This Page was last updated 1 November 2017

  • Assistance Public Hopitaux de Paris

    This Healthcare Provider was last updated 12 November 2019

  • 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

    If you are officially involved with our ERN and would like your personal information adding or updating on this website please fully complete the following form. Please note – all previous information on the website will be written over with informatio …

    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 18 January 2018

  • Faculty Hospital Motol

    This Healthcare Provider was last updated 10 October 2017

  • Anna Kostera-Pruszczyk

    This Contact was last updated 23 October 2019

  • SPCSK, Medical University of Warsaw

    This Healthcare Provider was last updated 23 October 2019

  • Michael Hails – EURO-NMD Communications Manager

    This Contact was last updated 5 November 2020

  • Coordination Team of EURO-NMD

    The EURO-NMD coordination team are based in the John Walton Muscular Dystrophy Research Centre at Newcastle University. The team is led by EURO-NMD coordinator Tesresinha Evangelista.   Teresinha Evangelista – EURO-NMD Coordinator Assistance …

    This Page was last updated 20 July 2018

  • 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

    Ulrike Schara 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 20 July 2018

  • 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 26 November 2018

  • 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 58, 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 27 July 2020

  • 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 23 October 2019

  • 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

    These initial details won’t appear on the website. We want to be able to get in touch with an appropriate person if we have questions about the information recorded on this form. We will only use this information if we need to get in touch with you abo …

    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  Hungary  Italy  Latvia  Lithuania  Luxembourg …

    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 12 June 2018

  • 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 5 November 2020

  • Oxford University Hospitals NHS Foundation Trust

    This Healthcare Provider was last updated 5 November 2020

  • 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 4 April 2019

  • 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 23 October 2019

  • 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 11 June 2020

  • Gauthier Remiche

    This Contact was last updated 21 January 2019

  • Centre de Référence Neuromusculaire Erasme-HUDERF

    This Healthcare Provider was last updated 7 June 2017

  • Antonio Toscano

    This Contact was last updated 15 June 2017

  • 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 24 January 2019

  • 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 24 January 2019

  • Pierre Carlier

    Dr Pierre Carlier is a leading specialist in magnetic resonance imaging and spectroscopy of muscle with a particular interest in its development as a quantitative outcome measure. One of the main goals of Pierre’s lab at the Institut de Myologie is to move from qualitative and semi-quantitative evaluation to truly quantitative imaging measurements, which are essential to ensure the clinical relevance of high-technology imaging procedures. Developing and refining these quantitative techniques may enable the detection of very early and pre-clinical signs of a positive response to treatment, thus making MRI and MRS potentially attractive outcome measures in trials. Pierre is developing standard operating procedures for the use of certain quantitative techniques and is engaged in numerous research projects further developing MRI&S as a non-invasive diagnostic tool and outcome measure.

    This Contact was last updated 20 November 2019

  • 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 23 October 2019

  • 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 5 November 2020

  • 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 24 January 2019

  • Send us an event to add to our website

    Send us details about your event Please fill out this form if you wish to list an event on our website. If you have any questions please contact us at info@ern-euro-nmd.eu. We may need to edit your information for space requirements or to conform to ou …

    This Page was last updated 10 May 2017

  • Andrés Nascimento

    This Contact was last updated 27 July 2018

  • 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 3 January 2018

  • Jean-Christophe Antoine

    This Contact was last updated 9 April 2018

  • 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 23 November 2020

  • Gabriele Siciliano

    This Contact was last updated 21 February 2018

  • Isabel Illa

    This Contact was last updated 7 February 2018

  • Elena Pegoraro

    This Contact was last updated 8 June 2017

  • 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 20 November 2019

  • 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 8 June 2017

  • 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 (full member) of EURO-NMD and one patient representative elected by the …

    This Page was last updated 25 July 2018

  • Educational Resources

    EURO-NMD/TREAT-NMD Translational Research Summer School 19-23 July 2021 – Leiden, Netherlands (Please note we were unable to deliver our 2020 Summer School due to the COIVD19 crisis) Our summer school has been developed for researchers and clinicians i …

    This Page was last updated 5 August 2020

  • Patient Engagement

    In the field of neuromuscular diseases, highly active patient organizations have historically been key in the generation of disease-specific training and information material for healthcare professionals as well as patients, and in the development of r …

    This Page was last updated 3 August 2020

  • 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) 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 3 August 2020

  • 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 25 January 2018

  • John Walton Muscular Dystrophy Research Centre Logo

    John Walton Muscular Dystrophy Research Centre

    This Healthcare Provider was last updated 5 November 2020

  • Francesco Muntoni

    This Contact was last updated 5 November 2020

  • 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 7 November 2017

  • Carmen Paradas

    This Contact was last updated 21 February 2018

  • Cornelia Kornblum

    This Contact was last updated 17 August 2020

  • 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 8 June 2017

  • Angela Kaindl

    This Contact was last updated 10 October 2018

  • 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 15 January 2018

  • Ivailo Tournev

    This Contact was last updated 14 August 2017

  • Anneke van der Kooi

    This Contact was last updated 19 July 2018

  • 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 27 July 2018

  • 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 8 June 2017

  • CHU Limoges

    This Healthcare Provider was last updated 28 April 2017

  • erasmus logo

    Erasmus MC University Medical Center

    This Healthcare Provider was last updated 27 July 2018

  • 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 28 April 2017

  • 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 8 June 2017

  • 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 6 November 2017

  • 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  Hungary  Italy  Latvia  Lithuania  Luxembourg …

    This Page was last updated 30 March 2017

  • Newsletter

    Recent newsletters Links to our most recent newsletters can be found below Newsletter – November 2020Newsletter – October 2020Newsletter – September 2020Newsletter – July 2020Newsletter – June 2020Newsletter – May 20 …

    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 11 April 2019

  • Juan J Vilchez

    This Contact was last updated 8 June 2017

  • 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 24 January 2019

  • Antonio Federico

    This Contact was last updated 8 June 2017

  • Azienda Ospedaliera Universitaria Senese

    This Healthcare Provider was last updated 28 April 2017

  • Stanislav Vohanka

    This Contact was last updated 3 March 2020

  • Dubowitz Neuromuscular Centre

    This Healthcare Provider was last updated 5 November 2020

  • 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 28 April 2017

  • 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 26 February 2018

  • Gaslini Institute

    This Healthcare Provider was last updated 28 April 2017

  • Massimiliano Filosto

    Dr Massimiliano Filosto graduated in Medicine and Surgery with honors at University of Catania in 1993. He specialized in Neurology with honors at University of Verona in 1999. In 2003, he obtained his Ph.D. in Neurosciences at University of Verona after a Postdoctoral Research Fellowship (2002-2003) at the Department of Neurology, Columbia University, New York, USA. To date, Dr. Filosto is a Neurologist at the Department of Neurological Sciences and Vision, ASST “Spedali Civili”, Brescia, Italy (Chairman Prof. A. Padovani); he’s coordinator of the Center for Neuromuscular Diseases and Neuropathies, including ALS Center and Muscle Biopsies Center. He’s Contract Professor of Neurology at University of Brescia. The main interests in the field of neurosciences are muscle, nerve and motor neuron diseases. His work focuses on metabolic myopathies, genotype/phenotype relations, epigenetic and pathological findings in mitochondrial diseases and muscle glycogenoses. Since 2000 he is member of the Italian Society of Neurology and the Italian Association of Myology; since 2005 of the Italian Association of Neuropathology; since 2007 of the World Muscle Society; since 2010 of the Italian Association for the Study of the Peripheral Nervous System. Since 2011 he is member of the TREAT-NMD Neuromuscular Network (network of excellence funded by the European Commisisone FP6). Since 2012 he is a member of Orphanet as Coordinator of the Centre of Expertise “Center for Neuromuscular Diseases and Neuropathies – Unit of Neurology – ASST Spedali Civili, Brescia”, EUGT number: EUGTIT291956, Orpha number: ORPHA291961. Since 2012 he’s member of the Board of the Italian Association of Myology (AIM). Since 2015 he is a member of the Medical/Scientific Commission of the Italian Amyotrophic Lateral Sclerosis Association (AISLA) and, since 2017, of the Italian ! Union ag ainst Muscular Dystrophies (UILDM). Since 2016 he is full Individual Member of the European Academy of Neurology and partecipates to expert panels in neuromuscular diseases, peripheral neuropathies and motor neuron diseases.

    This Contact was last updated 8 June 2017

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

    This Healthcare Provider was last updated 6 June 2017

  • Bela Melegh

    This Contact was last updated 19 November 2019

  • University of Pécs

    This Healthcare Provider was last updated 19 November 2019

  • Mar Tulinius

    This Contact was last updated 8 June 2017

  • Sahlgrenska Universitetssjukhuset

    This Healthcare Provider was last updated 28 April 2017

  • Jens Schmidt

    This Contact was last updated 22 July 2019

  • Neuromuscular Center, University Medical Center Goettingen

    This Healthcare Provider was last updated 28 April 2017

  • Mary Reilly

    Dr Mary M Reilly studied medicine at University College Dublin. After doing two years of Neurology in Dublin, she did her MD thesis on Familial Amyloid Polyneuropathy in the Institute of Neurology, Queen Square, London. She then completed her Clinical Neurological training subspecialising in peripheral nerve diseases in the National Hospital for Neurology and Neurosurgery, the Royal Free hospital and Guy’s Hospital. Since 1998, she has been a Consultant Neurologist in the National Hospital for Neurology and Neurosurgery with a clinical and research interest in peripheral nerve disorders especially inherited neuropathies.

    This Contact was last updated 5 November 2020

  • University College London Hospitals NHS Trust

    This Healthcare Provider was last updated 5 November 2020

  • 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 8 June 2017

  • 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, 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 27 July 2018

  • 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 27 July 2018

  • 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  Hungary  Italy  Latvia  Lithuania  Luxembourg  Malta  Netherl …

    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 6 July 2020

  • University Hospital St-Luc

    This Healthcare Provider was last updated 15 January 2018

  • 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

  • Diseases Covered

    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 28 June 2017

  • 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 14 May 2019

  • 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 5 March 2019

  • 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

  • Korea

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  • Home

    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 t … Newslett …

    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