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2446 news items
The transition from childhood to adulthood in neuromuscular disorders: a European perspective
On 08/04/2026
The European reference network EURO-NMD conducted a survey to assess the needs and processes involved in the transition of patients with a neuromuscular disorder from…
An update on the emerging concept of myotubulinopathy
On 06/04/2026
Pathogenic variants in the TUBA4A gene underlie several phenotypes, some of which manifest as muscular symptoms. An international consortium of researchers has compiled the full…
ERN EURO-NMD webinar, 9 Apr.: Prof. Mathilde Duchesne (France)
On 03/04/2026
Episode 2 – Advanced Microscopy Techniques for Nerve Analysis (in EURO-NMD Neuropathology Webinar Series) Thursday 9 April 2026 – 16:00-17:00 Paris time Speaker: Prof. Mathilde Duchesne…
ERN EURO-NMD webinar, 7 Apr.: Prof. Angelo Schenone (Italy)
On 01/04/2026
Episode 1 – Basic Techniques for Nerve Biopsies (in EURO-NMD Neuropathology Webinar Series) Tuesday 7 April 2026 – 16:00-17:00 Paris time Prof. Angelo Schenone (IRCCS Ospedale…
Two useful biomarkers for a muscle-manifesting mitochondrial disease
On 01/04/2026
Italian and Norwegian researchers report on their work concerning MELAS syndrome (an acronym for Myopathy, Encephalopathy, Lactic Acidosis and Stroke-like episodes), a mitochondrial cytopathy with…
The real-world effects of medications contraindicated in Myasthenia Gravis
On 31/03/2026
French clinicians have examined the links between autoimmune myasthenia gravis and medications that are traditionally contraindicated (either formally or relatively) for this condition: The National…
A new prognostic factor in muscular dystrophies with cardiac involvement
On 30/03/2026
Clinicians in the Paris region, some of whom practice at the Institute, report on a study of a new ratio of echocardiographic parameters in patients…
M&Ms – Muscle Monday Seminar – 30 March – Prof. Karyn Esser (USA)
On 30/03/2026
Keeping Time for the Body: Skeletal Muscle Clocks and Systemic Health 30 March 2026 from noon to 1pm (Paris time) Prof. Karyn Esser, PhD Chair…
Cases of spontaneous remission of autoimmune necrotizing myopathy
On 27/03/2026
An international consortium of clinicians, including researchers from the Institute*, examined specific cases of statin-associated autoimmune necrotizing myopathy (IMNM), particularly those involving anti-HMGCR autoantibodies: four…
Chemical inhibition of SUMOylation activates the FSHD locus
On 26/03/2026
Researchers in Marseille, in collaboration with a researcher from the Institute of Myology*, have investigated the epigenetic regulation of DUX4 expression—the protein responsible for muscle…
Improved efficacy of ERT in pediatric forms of Pompe disease due to newborn screening
On 26/03/2026
A growing number of countries, including the United States, have implemented newborn screening for Pompe disease. American clinicians review the cases of children screened and…
Caution is advised with certain herbal supplements in patients with autoimmune diseases
On 25/03/2026
American doctors have examined the potential risks of over-the-counter herbal products due to their impact on the immune systems of patients with autoimmune conditions such…
The use of autologous CD19 CAR-T cells in refractory autoimmune diseases
On 25/03/2026
A European consortium of researchers reviews the therapeutic use of genetically modified autologous T cells (CAR-T cells): this autologous cell therapy was administered to patients…
The sarcoglycanopathies pattern in whole-body muscle imaging
On 24/03/2026
An international research consortium has reported magnetic resonance imaging (MRI) data (whole-body MRI in this case) from 64 patients diagnosed with sarcoglycanopathy: 43 had LGMD-R3…
How to respond to hyperkinase: recommendations from the European Academy of Neurology
On 23/03/2026
The European Academy of Neurology (EAN), the leading European professional body in neurology, has brought together experts to discuss the diagnostic approach to be adopted…
ERN EURO-NMD webinar, 26 March: Dr. Philip Henman (UK)
On 23/03/2026
Orthopaedic Complications Thursday 26 March 2026 – 16:00-17:00 Paris time Dr. Philip Henman (The Newcastle upon Tyne Hospitals NHS Foundation Trust, UK) > + infos…
An unusual presentation of congenital myasthenic syndrome
On 20/03/2026
Clinicians in Hong Kong report an unusual case of congenital myasthenic syndrome (CMS) that initially suggested an eating disorder: the patient was 42 years old…
Aly Bourguiba winner of the 2026 Graine de Chercheur Prize
On 18/03/2026
Aly Bourguiba is currently a third-year PhD student in the ‘Maintaining muscle mass and function – optimising AAV-based gene therapies (MOOVE)’ team, led by France…
ERN EURO-NMD webinar, 19 March: Prof. Michael Benatar (USA)
On 16/03/2026
Advances in understanding pre-symptomatic ALS: implications for disease prevention Thursday 19 March 2026 – 16:00-17:00 Paris time Prof. Michael Benatar (University of Miami, USA) > +…
TK2 deficiency: from the treatment of early-onset forms to understanding the natural history of late-onset forms
On 13/03/2026
In January 2026, the European Medicines Agency (EMA) issued a favourable opinion on granting marketing authorisation (MA) for Kygevvi (doxecitine and doxribtimine) for the treatment…
