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2414 news items
Research
Proteomics to help elucidate pathophysiological interactions and associated multisystem dysfunctions
On 27/03/2024
This perspective article, in which researchers from the Institute of Myology took part, addresses the question of how proteomics, a central systems biology technique deeply…
Research
News of enzyme therapy in Pompe disease
On 27/03/2024
Several laboratories are developing recombinant enzymes for the treatment of Pompe disease: Sanofi-Genzyme, already the originator of the first marketed treatment, Myozyme, has developed a…
Research
A consensus on the management of autoimmune myasthenia in the five Nordic countries
On 26/03/2024
Clinicians from the five Nordic countries (Norway, Sweden, Finland, Denmark and Iceland) have shared their experience in the management of generalised autoimmune myasthenia with autoantibodies…
Events
ERN EURO-NMD webinar, 2 April : Dr. Francina Munell Casadesus (Spain) & Prof. Laurent Servais (UK)
On 26/03/2024
Overview of gene therapy developments for clinicians & Gene therapy in clinical practice Tuesday 2 April 2024 – 17:00-18:00 Paris time Dr. Francina Munell Casadesus…
Research
The use of home mechanical ventilation has increased over the last two decades
On 25/03/2024
In order to assess the use of home mechanical ventilation, invasive or non-invasive, between 2000 and 2023, French and Belgian authors carried out a review…
Research
Language development is better in children with SMA treated at presymptomatic stage
On 22/03/2024
Italian clinicians studied language skills in 36 children with type I spinal muscular atrophy (SMA), whether symptomatic (24/36) or not (12/36), and who had benefited…
Research
Transcranial direct current stimulation tested in myositis
On 21/03/2024
A Brazilian single-center, randomized crossover clinical trial evaluated: in 17 adults with autoimmune necrotizing myopathy or dermatomyositis in remission or minimal activity, chronic algic and…
Research
Sleep disordered breathing in slowly progressive myopathies: beyond alveolar hypoventilation
On 20/03/2024
A French retrospective study of the records of 149 adults with an average age of 46.5 years and suffering from myotonic dystrophy (45) , myasthenia…
Research
Microdystrophin-based gene therapies do not prevent utrophin expression in muscle fibers
On 19/03/2024
American researchers have investigated whether the supply of microdystrophin via AAV viruses could modify the physiological overexpression of utrophin observed in Duchenne muscular dystrophy: the…
Research
Guidelines for the administration of microdystrophin gene therapy
On 18/03/2024
American and European clinicians involved in innovative therapies for Duchenne muscular dystrophy (DMD) have published guidelines for the use of delandistrogene moxeparvovec, a gene therapy…
Research
Bumetanide is not effective against focal paralysis attacks in hypokalemic periodic paralysis
On 15/03/2024
A focal attack of paralysis induced by isometric exercise of the abductor muscle of the 5th finger of the hand followed by a period of…
Events
43 French personalities call for a national “Muscle Plan” as a legacy of the Paris Olympic and Paralympic Games
On 14/03/2024
Over forty French personalities from a broad range of backgrounds are calling for the launch of a national, cross-disciplinary “Muscle Plan” to give muscle science…
Events
M&M’s – Muscle Monday Seminar – 18 March – Benedicte Chazaud (France)
On 14/03/2024
Restorative macrophage-derived RNAseT2 stimulates muscle stem cell fusion via an SLK/N-WASP/actin bundling dependent axis 18 March 2024 – from 12 to 1 pm Benedicte Chazaud…
Events
Call for a national « Muscle Plan »
On 14/03/2024
2024, the year of physical activity and sport as a Great National Cause, must also be the year of the Muscle. Nearly 250 experts gathered…
Research
A biallelic SOX8 variant causes a new syndrome combining myopathy, bone deformities, intellectual impairment and ovarian dysfunction
On 14/03/2024
A Canadian team reports the case of a skinny, short 27-year-old woman with a diminished head circumference, non-progressive proximal and distal muscle weakness, moderate intellectual…
Research
Muscle hypertonicity linked to TPM2 and TPM3 variants
On 13/03/2024
A Finnish team has described a congenital myopathy linked to atypical TPM2 or TPM3 in seven patients from three families. In contrast to the phenotype…
Research
New results from SMART trial with Zolgensma in proximal spinal muscular atrophy
On 12/03/2024
Results from the one-year SMART trial with Zolgensma, the Novartis gene therapy product, were announced by Novartis via press release and presented at the Muscular…
Research
Results of phase II trial testing erythromycin in DM1
On 11/03/2024
Based on its efficacy in a mouse model of Steinert’s disease (DM1), a Japanese team evaluated erythromycin (MYD-0124) against placebo in 30 DM1 patients treated…
Research
Intermediate data confirm good results for efgartigimod in myasthenia gravis
On 08/03/2024
An open-label extension of the international Adapt trial, Adapt+ involved 151 adults with generalized autoimmune myasthenia gravis treated with cycles of four weekly infusions of…
Research
Remission of refractory necrotizing myopathy after 18 months of CAR-T cell therapy
On 07/03/2024
After good results in lupus, myasthenia and anti-synthetase syndrome, a new publication reports the successful treatment of another autoimmune disease in China with CAR-T cells…