Webinars

Delivered by Marcondes C. França Jr, 11 January 2022, 3-4pm CET

The speaker is Neurologist at the Department of Neurology and Associate Professor at the School of Medical Sciences, University Campinas (UNICAMP), Brasil.

Delivered by Profs Tracey Willis and Derek Willis

Biosketch of Prof Tracey Willis

I am a dedicated paediatric neurologist with a special interest in neuromuscular diseases, both Paediatrics and Adults. I did my tertiary neurology training in the West Midlands, following my CCT I was based in Starship Children’s hospital, Auckland, New Zealand for 2 years, returning to Birmingham Children’s hospital until October 2008 when I became the MDC (Muscular Dystrophy Campaign) Research Fellow based at Newcastle University doing a 3 year research project in muscle MRI and use as a diagnostic tool and disease progression marker, as well as setting up the International FKRP patient registry. During my career as both a registrar in Neurology and consultant I taught medical students regularly as part of face to face teaching, and now continue teaching the West midlands trainees both paediatrics and adults on neuromuscular disorders at Calman teaching days and regional training. I am now currently the clinical lead in Neuromuscular disorders at Robert Jones and Agnes Hunt orthopaedic hospital and Birmingham children’s hospital and Visiting Professor (awarded 2018) for Chester and Shrewsbury University, contributing to the master’s courses particularly in medical genetics.

I am part of the North West Network, and chair the West Midlands network (2017), as well as part of the Northstar and SMAREACH networks that set national standards; As part of the adult Northstar network I have been leading on the palliative care and have recently written a chapter for a book on palliative care considerations for neuromuscular patients and developed an e-learning tool for palliative care physicians on Neuromuscular conditions.  I am chair of the Muscle Interest group nationally, and am a board member for the BMS and BPNA. I am active in the national databases for DMD and SMA, as well as contribute to the FSHD, FKRP and Myotonic dystrophy registries. I am on the steering committee for the FSHD registry and local lead for Raxome EAMS.

 I am PI for a number of trials including; Italfarmaco and extension study (2017-date) recruited to target, Rare diseases NIHR study, SIDEROS (2017) and SIDEROS- E (2019), still recruiting and above target and iSMAC in-depth phenotyping study for SMA (spinal muscular atrophy) (1 of 7 centres)

PI for FSHD exercise and biomarker study – awarded institute funding (2015), supervising student running project

PI for FSHD arm cycling study, now completed (2018) and seeking increased funding for multicentre study with collaboration.

In December 2019 I secured pump priming for 3 new posts (£147,000) to increase trial capacity and awarded Medical Research Council (MRC) Grant funding in December 2018 for an SMA study joint with Manchester Metropolitan University (full grant approx. £996,000).

Biosketch of Prof Derek Willis

Derek Willis gained an Honours degree in Medicine at Birmingham University. He trained in the West Midlands in Palliative Care and General Practice. He has a higher degree in Health Care Ethics as well as a diploma in medical education. He was a GP in central Birmingham – his practice included being GP to the Birmingham Royal Ballet as well as the local Ministry of Defence staff. He was involved in writing and teaching the Graduate Entry Course at Birmingham Medical School where he was both Graduate entry Moderator and Honorary Lecturer. He was also involved in creating the first Birmingham Children’s Hospital Ethics committee and served two terms on the committee.

He has worked in New Zealand as GP in West Auckland. He worked as consultant in palliative care in central Auckland whilst also working as a GP to the national basketball team. He lectured in ethics at Auckland University

Currently he is Medical Director for Severn Hospice- which serves Shropshire and Mid Wales in the UK. His role includes working with the local neuromuscular services to look at palliative care for adults with neuromuscular disorders. He has helped write national governmental policy on this. He is a visiting Professor in Bioethics and Palliative care as well as holding a position at the UNESCO Bioethics dept at Edgehill University. He is treasurer for the Association Palliative Medicine – the national medical palliative care group in Great Britain and Ireland. He is also Associate Editor for the British Medical Journal of Supportive and Palliative Care. He is studying for a Philosophy degree.

Delivered by Anne Koy, 7 December 2021, 3-4pm CET

The speaker is neuropeadiatrician and head of the Centre for Dystonic Movement Disorders in Children and Associate Professor at the University Hospital Cologne, Germany.

Delivered by Alessandra Fanciulli, 23 November 2021, 3-4pm CET

Dr Fanciulli is deputy director of the Dysautonomia Center at the Innsbruck Medical University and co-chair of the Scientific Panel for Autonomic Nervous System Disorders of the European Academy of Neurology. Her research focuses on autonomic failure in movement disorders.

Delivered by Kristl Claeys, University Hospitals Leuven, Belgium

The webinar on “Muscle and Statins” on Thursday November 18th 2021 will cover the wide range of potential muscular complications caused by statins. Diagnosis and treatment will be discussed using case presentations and literature data. 

Biosketch of Pr. Dr. Kristl Claeys

Kristl Claeys (MD, PhD) is a senior neurologist at the Department of Neurology and Neuromuscular Reference Center (NMRC) at University Hospitals Leuven and is assigned as Professor at the Department of Neurosciences, KU Leuven, Belgium. At KU Leuven, Prof. Claeys is heading the Laboratory for Muscle Diseases and Neuropathies. Her research topics are clinical research and genetics in neuromuscular disorders, with a focus on hereditary muscle diseases. She also has a special interest in translational medicine in neuromuscular disorders. Kristl Claeys is an author on around 150 publications in international peer-reviewed journals and wrote several book chapters, on diverse topics in the field of neuromuscular disorders. She is Principal Investigator of a large number of academic research studies and international clinical trials. Kristl Claeys obtained the Emil Von Behring Chair in Neuromuscular and Neurodegenerative Disorders, provided by CSL Behring at KU Leuven. She is a reviewer for several scientific committees and international journals, and she is an Editorial Board member of Neurology. Kristl Claeys is the President of the Belgian-Dutch Neuromuscular Study Club and Vice-President of the Belgian Neurological Society (BNS). She is a Board member of the European Reference Network for rare neuromuscular diseases (ERN EURO-NMD) and coordinator of the subnetwork for rare neuromuscular diseases as part of the Flemish Network for Rare Diseases (VNZZ).

Delivered by Thomas Klockgether on November 9th

The speaker is a Professor in Neurology and Director of the Clinic and Polyclinic for Neurology at the University Hospital Bonn and Director of Clinical Research at the DZNE, Bonn, Germany.

Delivered by Nicole Wolf on 26th october 3-4pm CEST

The speaker is a consultant child neurologist and associate professor at the Emma Children’s Hospital, Amsterdam University Medical Centres, the Netherlands.
She is an expert in white matter disorders. Nicole Wolf’s main interest and research area are neurometabolic and neurodegenerative disorders.

Presented by :

– Gisele Bonne, Sorbonne University – INSERM – Institut of Myology, Paris, France
– Carles Hernandez-Ferrer, CNAG -CRG, Barcelona, Spain
– Katja Lohmann, Institute of Neurogenetics, Lübeck University, Lübeck, Germany

Treatabolome is a database that will be publically available on the internet to facilitate the identification of existing treatments for rare diseases. Gisele Bonne will introduce the Treatabolome concept. Carles Hernandez-Ferrer will talk about the development and implementation of the Treatabolome platform and Katja Lohmann will emphasize the synergies between the MSDgene and Treatabolome platforms.

Delivered by Annemieke Aartsma-Rus on 19th october 3-4pm CEST
The speaker is Professor of Translational Genetics at the Department of Human Genetics at the Leiden University Medical Center in the Netherlands. She has an interest on the development of antisense oligo nucleotides treatments, namely for Duchenne muscular dystrophy.

Delivered by Jorik Nonnekes on 12th october 3-4pm CEST
The speaker is consultant physiatrist and researcher at the Radboud University Medical Centre (Radboudumc), Department of Rehabilitation, Nijmegen, the Netherlands. His clinical and scientific focus: on diagnosis and personalized treatment of complex neurological gait disorders, specifically, on gait impairments in three groups of neurological disorders: 1) Parkinson’s disease, 2) rare and hereditary movement disorders (e.g. spinocerebellar ataxia and hereditary spastic paraplegia), and 3) stroke.

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

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

Sep 14, 2021 03:00 PM in Amsterdam, Berlin, Rome, Stockholm, Vienna

The speaker is Full Professor of Neurology at the University Tübingen and Director of the Department ‘Neurodegenerative Diseases’ at the Hertie Institute for Clinical Brain Research in Tübingen, Germany.

Jul 22, 2021 04:00 PM in Paris

delivered by J. Andoni URTIZBEREA

J. Andoni URTIZBEREA, (MD, MSc), aged 62, is a French physician trained in Paris University (1983-1987) and certified both in paediatrics and PMR (physical medicine and rehabilitation). After graduating in parallel from the Institut d’Etudes Politiques de Paris in 1987, he served many years as Medical Director of the AFM-Telethon and then as General Delegate of the Institut de Myologie of Paris (1993-2000). As Scientific Director of the European Neuromuscular Center  in the Netherlands and together with AFM’s support (ENMC, 1999-2005), he contributed to the establishment of many worldwide networks in myology, an emerging discipline dedicated to muscle and related disorders (Duchenne muscular dystrophy, spinal muscular atrophy, Limb Girdle Muscular Dystrophies among many others). He served until December 2019 as a part-time clinical myologist in Hendaye, France (APHP) and as deputy coordinator of the French Neuromuscular Network (FILNEMUS) in Marseilles. Over the past twenty years, he headed various worldwide educational events dedicated to myology (in France, Russia, Latin America and, more recently in the Middle-East). He is a regular visiting professor in various countries and a consultant for many pharma involved in the field. Ideally located at the intersection of industry, patient advocacy groups and academia, his main objective is to raise more awareness about these rare conditions notably in emerging countries and more specifically in the context of novel cutting-edge therapies. Dr. Urtizberea knows quite well the Middle-East, the Indian sub-continent, Russia and Latin America. More recently (2016), and together with Prof. André Megarbané (Beirut, Lebanon), he co-founded ‘Maladies Orphelines Sans Frontières’ (MOSF), an NGO dedicated to humanitarian relief in the field of rare disease.

SUMMER SCHOOL WEBINARS are a collaboration of EURO-NMD and TREAT-NMD

ALL WEBINARS produced by EURO-NMD, ERN-RND (European Reference Network for rare neurological diseases) and European Academy of Neurology

THIS WEBINAR WILL NOT TAKE PLACE ON THIS DATE; IT WILL BE RESCHEDULLED, SORRY

Pietro Spitali is currently an assistant professor at the Human Genetics Department of the Leiden University Medical Center. He has worked in the field of muscular dystrophies and especially Duchenne muscular dystrophy (DMD) since 2003. His graduate work focused on the pre-clinical development of antisense oligonucleotides mediated exon skipping in DMD. After obtaining his PhD in Ferrara in 2010 he moved to the DMD genetic therapy group headed by Dr. Annemieke Aartsma-Rus at the Leiden University Medical Center in the Netherlands, first as post-doc researcher and since 2014 as assistant professor. His work focuses on the identification of –omic biomarkers in patients affected by muscular dystrophies and especially Duchenne. Pietro has authored >40 publications in leading journals. His work has been funded by patients charities such as the Prinses Beatrix Spierfonds, the Association française contre les myopathies (AFM), Dutch Duchenne Parent Project and PPMD as well by EU projects. He was involved in the FP7 funded Bio-NMD, SCOPE-DMD and NeurOmics projects and he is work package leader in the H2020 BIND consortium. He has been a member of COST Action BM1207 (www.exonskipping.eu). Pietro is an active reviewer for prestigious journals and funding agencies. 

SUMMER SCHOOL WEBINARS are a collaboration of EURO-NMD and TREAT-NMD

ALL WEBINARS produced by EURO-NMD, ERN-RND (European Reference Network for rare neurological diseases) and European Academy of Neurology

Delivered by Dr. Hermien Kan

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

She started her research into MR methods of skeletal muscle in patients with facioscapulohumeral dystrophy, by performing MR imaging and phosphorous MRS to study muscle at the Radboud university Medical Center in Nijmegen. She then moved to the LUMC to work on DMD and BMD. She was a member of the TREAT-NMD network of excellence MRI working group and is a member of the scientific advisory board of the Prinses Beatrix Spierfonds. Her current research is funded by grants from the Dutch Science Foundation, the Duchenne Parent Project and the EU. She is site PI on the H2020 project BIND and co-chair of the Imaging in Neuromuscular disease conference 2021. she recently extended her research line to also include Myasthenia Gravis, where she is looking at the involvement of the extra-ocular muscles by MRI. 

Webinar delivered by Adam Vogel

6th July 3PM Paris

Educational webinars on rare neurological, neuromuscular and movement disorders jointly organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN EuroNMD) and the European Academy of Neurology (EAN). The speaker is Professor in Speech Pathology Audiology and Speech Pathology at the University of Melbourne, Australia. He leads the Centre for Neuroscience of Speech where his team works to improve speech, language and swallowing function in people with progressive and acquired neurological conditions. He is a recipient of an NHMRC Dementia Fellowship.

Summer School Webinar in collaboration with Treat-NMD

This webinar will cover the features of Clinical Trials, in particular the ones for Rare Diseases. Setting up Clinical Trials to populations with specific diseases of low prevalence is a skill of the John Walton Muscular Dystrophy Centre and Dr Guglieri has a vast experience running Clinical Trials and coordinating a team of healthcare providers, project managers and researchers with diverse skills to deliver the results that patients require to improve their care.

Michela Guglieri,  is a Senior Clinical Lecturer and Consultant Neurologist at Newcastle University and Newcastle Hospitals NHS Foundation Trust. Michela has a specific interest in care, management and translational research in inherited neuromuscular disorders. Michela has been involved in several clinical trials in Duchenne muscular dystrophy (DMD) and other neuromuscular disorders and is study chair for two large international trials in DMD.

This WEBINAR discusses the new classification of LGMDs and maps the current classification to the previous one, explaining the rationale of the updates that were done. It includes therefore a ample discussion of disease causes, mechanisms and ontologies to enable a smoother transition to the new classification system for LGMD sub-types that hopefully is most useful to patients, researchers and clinicians and complies with classification systems established by OMIM (Online Mendelian Inheritance in Man), Orphanet and ICD (International Classification of Diseases)-11.

Read about the patient’s leaflet on the classification here.

Volker Straub is Harold Macmillan Professor of Medicine and Professor of Neuromuscular Genetics, Newcastle University Deputy Dean, director of the Institute of Translational and Clinical Research Newcastle University  and John Walton Muscular Dystrophy Research Centre Honorary Consultant in Clinical Genetics.
He trained as a paediatric neurologist at the University of Dussledorf and the University of Essen, Germany. Following this, he completed his PhD on Duchenne muscular dystrophy and took up a postgraduate post in Kevin Campbell’s laboratory at the University of Iowa, on limb girdle muscular dystrophies (LGMD).
Professor Straub’s interest in muscle diseases is in translational research.
He was the co-founder of the EU FP6 funded network TREAT-NMD, which he coordinated with Professor Kate Bushby. He is a long standing core member of the TREAT-NMD TACT committee, which offers guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases.
His current research involves the application of muscle imaging, the use of zebrafish and mouse models, next generation sequencing and other –omics technologies for the characterization of primary neuromuscular disorders.

‘Update Metachromatic Leukodystrophy’​ is a joint webinar organized by ERN-Rare Neurological Diseases with the European Academy of Neurology and the ERN Euro-NMD for rare neuromuscular disorders.

Samuel Gröschel is Senior Child Neurologist, at the Department of Neuropaediatrics at the University Hospital Tübingen. He is also deputy head of the interdisciplinary work area Experimental Pediatric Neuroimaging (in joint sponsorship with the Department of Diagnostic and Interventional Neuroradiology).
Ingeborg Krägeloh-Mann is a Professor for Child Neurology at the University Hospital of Tübingen, Germany. Her research centres on early brain lesions and cerebral palsy and the compensatory potential of the developing brain after these lesions, which she studies using MRI techniques and standardised clinical descriptions. She also uses these methods to describe the natural history of rare diseases.

Delivered by Alain Geille, (president Euro-DyMA), Peter-Bram ‘t Hoen and Baziel van Engelen

Jun 10, 2021 16:00 Paris time

This seminar will focus on the development of individualized interventions in myotonic dystrophy that take into account the clinical heterogeneity between patients and that meet personalized treatment goals.
The topic will be addressed from the the patient perspective (interview by Alain Geille, president Euro-DyMA), the perspective of a clinician and clinical researcher (Prof. Baziel van Engelen, Neurology, Radboudumc) and a basic researcher (Prof. Peter-Bram ‘t Hoen, Bioinformatics, Radboudumc). Experiences and lessons from the OPTIMISTIC trial with Cognitive Behavioural Therapy as a personalized intervention will be shared. Molecular biomarker signatures associated with heterogeneity in clinical phenotypes and how this motivates development of drug repurposing strategies in the ReCognitION project will be presented.

Delivered by: Nicole Wolf (Emma Children’s Hospital, Amsterdam University Medical Centre, the Netherlands)

On the: 8 June 2021, 3-4pm CET

The speaker is consultant child neurologist and associate professor at the Emma Children’s Hospital, Amsterdam University Medical Centres, the Netherlands. She is an expert in white matter disorders. Nicole Wolf’s main interest and research area are neurometabolic and neurodegenerative disorders.

This webinar is about what is new in FSHD. The field of FSHD is rapidly evolving. The clinical and genetic variability of this disease become more undestandable together with FSHD pathophysiological mechanism. The development of new therapies for this disease is rapidly evolving. Clinical trial readiness is the core issue that need to be addressed. The experts will give their point of view on what’s new on FSHD field and stimulate the discussion  on what we can still improve with a collective effort.

This webinar is about what is new in FSHD. The field of FSHD is rapidly evolving.

The clinical and genetic variability of this disease become more undestandable together with FSHD pathophysiological mechanism.

The development of new therapies for this disease is rapidly evolving. Clinical trial readiness is the core issue that need to be addressed.

The experts will give their point of view on what’s new on FSHD field and stimulate the discussion  on what we can still improve with a collective effort.

Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases.
Pr. SACCONI starts to practice medicine in 1997 at Pavia in Italy and becomes specialist in neurology in 2003. From 2004 to 2008, she begins a European career and constantly improves her competences and understandings on neuromuscular disorder. In 2010, she obtains a PhD in cell physiology and biology with a work on genetic and epigenetic of facioscapulohumeral muscular dystrophy. In 2012, she obtains an accreditation to supervise research in Nice and becomes full University Professor in 2014 for the Nice UHC.
Since then, she is Head of the department « Peripheral Nervous System and Muscle ». She is also coordinating a basic research team at IRCAN Institute of Research on Cancer and Aging and working on the suppling of several databases and biobank on rare neuromuscular diseases.

The main research topic of Prof. Sacconi is the development of new therapeutic strategies on neuromuscular diseases based on the understanding the role of genetic, epigenetic, endocrine and immune system deregulation in the progression of these diseases.

Teresinha Evangelista is a Board-certified neurologist and neuropathologist with long standing clinical and research expertise in neuromuscular disorders. Dr Teresinha Evangelista was the president of the Portuguese Society for the Study of Neuromuscular Diseases from 2009 to 2013. In 2018, she became the coordinator of the European Reference Network for rare neuromuscular diseases EURO-NMD. In 2018, she joined the « Unité de Morphologie Neuromusculaire; Institut de Myologie – Sorbonne Université, GHU Pitié-Salpêtrière

This Euro-NMD webinar, organised in collaboration with ERN-RND Rare Neurological Disorders and the European Academy of Neurology, is about Muscle and Ageing.
It is delivered by Gillian Buttler-Brown who has a special interest and extensive research work published on the subject (namely papers with PMIDs: 30216693, 28585053, 28382740, 27515675, 26461311, 25532418, 25405809, 23722256, 23624703, 18801052).

Next European Reference Network for Rare Neurological Diseases joint webinar with Euro-NMD ERN for rare neuromuscular diseases and the European Academy of Neurology
is entitled: MR Biomarkers in Spinocerebellar Ataxias.
It takes place on the 13th April, 15-16h CET
Delivered by
Gülin Öz
Professor, PhD @Medical School, University of Minnesota, Minneapolis, USA
Following BS degrees in Physics and Chemistry and a PhD in Biochemistry, Gülin Öz continued with postdoctoral training at the CMRR where she later joined the faculty. She uses high field, multi-nuclear magnetic resonance spectroscopy (MRS) to explore neurochemical and metabolic alterations in diseases that affect the brain and spearheaded utilization of neurochemical profiles to assess cerebral changes in patients with neurological diseases and their response to treatment.

Delivered by: Melanie Quintana

Description: We describe a Bayesian repeated measures model based on quantitative muscle strength data from a prospective Natural History Study at the NIH that was developed to determine disease progression and design clinical trials for GNE myopathy, a rare and slowly progressive muscle disease. The GNE disease progression model can be used to better understand natural disease progression, to guide decision making for key clinical trial design parameters, and to provide an analysis method for determining if a novel therapy is effective in altering disease progression.

Bio: Melanie Quintana is a Senior Statistical Scientist at Berry Consultants, where she specializes in designing Bayesian adaptive clinical trials across a wide range of therapeutic areas. Her work includes numerous examples in designing platform trials and clinical trials in rare and progressive disease with a focus on developing models of disease progression to design better and more powerful clinical trials. Before joining Berry Consultants, she earned her Ph.D. in Statistics from Duke University and went on to pursue a Postdoc in Biostatistics at The University of Southern California.

The webinar is moderated by: Michela Onali, a patient representative from “Gli Equilibristi HIBM”, also member of ERN Euro-NMD’s ePAG, Education Board, Muscle Working Group and Guidelines Core Group.

23MAR 2021 15:00-16:00 CET

Challenges in Frontotemporal Dementia: clinical, genetic and pathological heterogeneity’​ by Harro Seelaar

The speaker is Neurologist and Postdoctoral researcher in the Department of Neurology at the University Medical Center Rotterdam, the Netherlands. His expertise and research focus are in the field of Alzheimer’s disease and frontotemporal dementia.

Organized by the European Reference Networks for Rare Neurological Diseases (ERN-RND) in collaboration with the Neuromuscular Diseases ERN (ERN Euro-NMD) and the European Academy of Neurology (EAN).

Telemedicine in NMD: state of the art

Delivered by: Sabrina Sacconi and Gabriele Siciliano

Sabrina SACCONI is Professor of Neurology at Nice University Hospital (France), now recognized as Reference Center for rare Diseases.
Pr. SACCONI starts to practice medicine in 1997 at Pavia in Italy and becomes specialist in neurology in 2003. From 2004 to 2008, she begins a European career and constantly improves her competences and understandings on neuromuscular disorder. In 2010, she obtains a PhD in cell physiology and biology with a work on genetic and epigenetic of facioscapulohumeral muscular dystrophy. In 2012, she obtains an accreditation to supervise research in Nice and becomes full University Professor in 2014 for the Nice UHC.
Since then, she is Head of the department « Peripheral Nervous System and Muscle ». She is also coordinating a basic research team at IRCAN Institute of Research on Cancer and Aging and working on the suppling of several databases and biobank on rare neuromuscular diseases.The main research topic of Prof. Sacconi is the development of new therapeutic strategies on neuromuscular diseases based on the understanding the role of genetic, epigenetic, endocrine and immune system deregulation in the progression of these diseases.

Gabriele SICILIANO

Present position: Full Professor in Neurology, Department of Clinical and ExperimentalrnMedicine, University of Pisa. President of Italian Association of Myology (AIM), since 2015 to date.

Academics and Professionals: Degree in Medicine: University of Pisa,l 27/6/1980, cum laude.rnSpecialization in Neurology: University of Pisa, 15/11/1984, cum laude, Thesis: “Methods of clinical evaluation of motor function in Duchenne Muscular Dystrophy”. Specialization in Physical and Rehabilitation Medicine: University of Pisa, 21/7/1992, Thesis: “Muscle metabolic aspects of fatigue in normals as evaluated by means of Phosphorus31 Spectroscopic Nuclear Magnetic Resonance during submaximal contraction”;. PhD in Neurological and Neurosensorial Sciences (University of Ancona, 2/10/1990), Thesis: “Central and peripheral mechanisms of muscle fatigue in normals and in neuromuscular diseases”. Post-Doctoral Research in Neurosciences: University of Ancona, from 16/9/1991 to 15/9/1993. Neurologist Assistant Register: at Neurological Clinic, University of Pisa, from 1993 to 1997. University Researcher Department of Neuroscience, University of Pisa from 1997 to 2001. University Associated Professor in Neurology (MED/26). Department of Clinical and Experimental Medicine, University of Pisa from 2001 to 2015. Research activities and interests: Since 1993 he is responsible for the Unit of Neuromuscular Diseases and for the Laboratory of Molecular Diagnosis in the former Department of Neuroscience, now Department of Clinical and Experimental Medicine – Neurological Clinics – University of Pisa, with main interests in clinical, laboratory and molecular aspects of neurodegenerative and neurogenetic disorders, acquired and genetic diseases of peripheral nervous system and skeletal muscle. These activities are conducted in collaboration with some overseas centres and laboratories. Since 1986 he has been engaged in studies on muscular dystrophies, metabolic diseases of muscle and motorneuron diseases. In particular,he has studied several issues on muscle fatigue, in collaboration with the Muscle Research Centre, University of Liverpool (Prof. RHT Edwards), exercise in normal and myopathic subjects, motorneuron output evaluation in amyotrophic lateral sclerosis, subsarcolemmal excitability in myotonic syndromes and muscular dystrophies, analysis of metabolic parameters in McArdle’s disease and mitochondrial myopathies. In the same period he has been engaged in epidemiological and therapeutical studies on neuromuscular disorders, in particular the use of selenium in Steinert disease, idebenone in mitochondrial myopathies, mexiletine in congenital myotonia, TRH and riluzole in amyotrophic lateral sclerosis. As far as mitochondrial myopathies are concerned, he is currently studying the effects of aerobic training programs, the relationship between metabolic and catecholaminergic systems during exercise, the pathogenic role of mitochondrial transcription factors, the diagnostic usefulness of magnetic resonance spectroscopic techniques. Furthermore, he is working on the possible role of mitochondrial involvement and oxidative stress in the pathogenesis of neurodegenerative disorders. All these activities have led to a scientific production volume represented by near 300 full papers, in specialized cited international journals, dealing with the above indicated arguments, funded projects from Institutional and Charity bodies, responsibility in research evaluation committees for public and private funding research bodies, participation to national and international clinical trials performed according to GCP (last GCP training certificate obtained in 19 February 2016).

He has been the Coordinator of the nation−wide Italian collaborative network established in 2009 (granted by Telethon-UILMD GUP09004), that has already developed a web-based registry of patients with mitochondrial diseases. They have collected 1400 patients, with onset of the disease in both adulthood and in childhood.

Next ERN-RND joint webinar with Euro-NMD and European Academy of Neurology

9 March, 15-16h CET
Speaking Belén Pérez Dueñas Of Vall d’Hebron University Hospital, Barcelona, Spain

Chaired by Marina de Koning-Tijsse, University Medical Centre Groningen, the Netherlands

By Prof Antonio Toscano, Neurologist and Neuromuscular Expert, Dean of the Medical Faculty of the University of Messina, IT

Prof. Toscano scientific activity has been mainly developed in neurogenetic diseases with specific reference to neuromuscular and neurodegenerative disorders

In fact, he is particularly dedicated to the diagnosis, management and treament of:
1) Metabolic myopathies as muscle glycogenoses (with particular interest in Glycogenosis type II – Pompe disease), lipid storage myopathies and mitochondrial disorders,
2) Genetic myopathies (limb-girdle syndromes, distal myopathies, channelopathies, cardiomyopathies, congenital myasthenia),
3) Peripheral neuropathies (particularly, disimmune and genetic neuropathies)
4) Neurodegenerative diseases (i.e., cerebellar ataxias and spastic paraparesis).

He is also author of over 160 publications in indexed journals (see list of pubblications).

He is member of the Editorial Board of: 1) Neuromuscular disorders, 2) Journal of Neuromuscular diseases and a reviewer for many high impact publications, besides having an extensive list of publications on his area of expertise.

Date: 9 February 2021, 3-4pm CET

Next ERN-RND joint webinar with Euro-NMD and the European Academy of Neurology is on 26 Jan 2021 at 3:00 PM (CET)

Delivered by Günter Höglinger, Medical University Hannover

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

Dr Benjamin Gallais, ÉCOBES – Recherche et transfert, Cégep de Jonquière

Also: Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), CSSS de Jonquière and Centre de recherche Charles-Le-Moyne, Faculty of Medicine and Health Sciences, Université de Sherbrooke, QC, Canada.

Webinar organized by Euro-NMD  in collaboration with ERN-RND and European Academy of Neurology.

Click the image below to watch the recording of this webinar.

This Webinar has been delivered by Prof Isabel Leite, University of Oxford, UK on Thursday 10 December 16:00 (Paris Time)

This is part of a joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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 neurologist and senior lecturer at the Movement Disorders and Neuromodulation Unit at the Charité, University Medicine in Berlin. His clinical and research focus is on: movement and neurodegenerative disorders.

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

Gessica Vasco is Pediatric Neurologist at the Department of Neurosciences and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy. Her special research focus is on Neuromuscular and Neurogenetic Disorders in childhood.

Susanna Summa is a researcher at the Department of Neurosciences and Neurorehabilitation, Ospedale Pediatrico Bambino Gesù, Rome, Italy. Her main research activities are focused on neuroscience, natural user interface and neurorehabilitation.

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 European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

Please note: This webinar was delivered on 19th November 2020

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

Ludger Schöls is a Professor of Neurology, Head of Clinical Neurogenetics, Centre of Neurology, University of Tübingen, Germany and Clinical coordinator of the European Reference Network on Rare Neurological Diseases (ERN-RND). His research group focuses on translational research in neurogenetic diseases such as cerebellar ataxia and hereditary spastic paralysis (HSP).

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 neurologist from the Radboud University Medical Centre in Nijmegen, the Netherlands. He is an expert on ataxia and has special interest in rare and genetic movement disorders.

This webinar took place on 3rd November 2020.

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 (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

This webinar took place on 29th October 2020

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

Bernhard Landwehrmeyer is a Principal Investigator Enroll-HD, Past Chairman of the Executive Committee of EHDN, Director of the HD-Center Ulm and Full Professor of Neurology at the University Ulm, Germany.

This webinar was part of a joint series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN).

It was delivered by Juan Dario Ortigoza-Escobar who is a pediatric neurologist from the Hospital Sant Joan de Déu in Barcelona, Spain. He is an expert in movement disorders (dystonia, Parkinsonisms, choreas, tremors, myoclonias, tics/Tourette syndrome, deep brain stimulation).

This webinar was delivered on 13th October 2020

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 Professor for Rehabilitation Medicine at the Amsterdam Research Institute for Movement Sciences. Laura Bonouvrié is specialist in Rehabilitation medicine at the Amsterdam University Medical Center- Research Institute for Neuroscience – Cellular and Molecular Mechanisms.

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 University Tübingen Germany and expert on Hereditary Spastic Paraplegia. She is leading the research group „Genomics of rare movement disorders“ at the Hertie Institute for Clinical Brain Research . She is also the coordinator of the network TreatHSP.

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 Clinical Research Fellow at NIHR and PhD Candidate at King’s College London and Consultant Occupational Therapist at Guy’s and St Thomas’ NHS Foundation Trust.

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 Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

Annemeike briefly introduces the basic concepts of different genetic therapies (gene addition, genome editing, splicing modulation and transcript readthrough). Duchenne is used as a paradigm since all these approaches are in development. However, the webinar also takes into account challenges and considerations for applying these approaches broader to other NMDs.

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 has been studying and treating patients with Huntington’s disease and juvenile onset Huntington’s disease over the last 30 years. Ferdinando Squitieri is Head of the Huntington and Rare Diseases Unit at Fondazione IRCCS Casa Sollievo Sofferenza Research Hospital in San Giovanni Rotondo and Head of the Neurology Department at CSS-Mendel Institute in Rome. His main line of research focuses on clinical, genetic and imaging changes in 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).

Gál Ota is a physiotherapist at the Department of Neurology at the General University Hospital in Prague, Czech Republic. He has special expertise in neurorehabilitation, musculoskeletal disorders and gait analysis.

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 of Communication Disorders at Comenius University, Bratislava. Special expertise and research focus: aphasia, progressive language disorders, neurogenic communication disorders. Robert Rusina, Head of the Department of Neurology, Charles University Thomayer Hospital, Prague. Special expertise and research focus: progressive aphasia, frontotemporal dementia, prion disorders, cognitive neurology.

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 the Dutch Neuromuscular Center.

Janneke studied medicine at the VU University Amsterdam, after which she followed her training as a neurologist at Maastricht UMC +. Since the start of her education in 2010, she has been engaged in research into painful neuropathies in close collaboration with the University of Yale (Prof. SG Waxman) and the Carlo Besta Institute in Milan (Prof. G. Lauria). In 2014, she defended her dissertation on the role of sodium channel mutations in patients with small fiber neuropathy. An article from her thesis was awarded the Princess Beatrix Spierfonds annual prize for the best neuromuscular article published in 2012. Since January 2016, Janneke works on neuromuscular disorders in Maastricht UMC+. In addition to research in the field of painful neuropathies, she is involved in myotonic dystrophy. Medical advisor for the diagnosis group smallfiber neuropathy of the Dutch patients organization for neuromuscular disorders and board member of the Dutch Neuromuscular Center.

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).

This webinar took place 20th August 2020

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-EuroNMD) and the European Academy of Neurology (EAN).

This webinar took place 23rd July 2020.

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 Disorders Department of Rehabilitation Nijmegen, The Netherlands.

Respiratory physiotherapy in Parkinson’s plus syndromes was delivered Martin Srp, Charles University and General University Hospital, Prague, Czech Republic.

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).

This webinar took place 14th July 2020.

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 at the University of Paris Descartes. He specialises in the clinical management of patients with cardiomyopathies with a specific expertise in neuromuscular diseases. Key areas of clinical and fundamental research for Pr. Wahbi are the prevention of heart failure and sudden death, the study of molecular mechanisms underlying cardiomyopathy and development of innovative therapies in patients with neuromuscular conditions.

This webinar gives a global overview of cardiovascular involvement in neuromuscular conditions, its impact on patient prognosis and the potential preventives approaches that can be implemented. A number of specific neuromuscular cardiomyopathies will be presented in detail, including those observed in patients with Duchenne muscular dystrophy, myotonic dystrophy type 1 and laminopathies .

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).

This webinar took place on Tuesday 26th May 2020

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 Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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-EuroNMD) and the European Academy of Neurology (EAN).

To compliment this webinar Nicole has developed this PDF of further information about exercising with a neuromuscular disease.

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.

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).

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 (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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

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 Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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 European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN).

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 Academy of Neurology (EAN).

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 Euro-NMD) and the European Academy of Neurology (EAN).

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, Parkinson’s disease and atypical parkinsonian syndromes.

Recording of this webinar will be made available shortly.

This is part of a joint webinar series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN Euro-NMD) and the European Academy of Neurology (EAN).

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 hypomyelinating leukodystrophies.

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).

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 Academy of Neurology (EAN).

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 diseases and neurorehabilitation with particular focus on ataxia.

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).

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 the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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 the European Academy of Neurology (EAN).

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 presentation and allowing us to include it here on our website.

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).

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 series by the European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

This webinar was organised by ERN-RND.

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 Academy of Neurology (EAN).

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 Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (ERN-EuroNMD) and the European Academy of Neurology (EAN).

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 European Academy of Neurology (EAN).

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 21^st March 2019 at 13:00-14:00 (GMT).

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).