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1678 news items
Research
Data from a cohort of 219 patients with distal myopathy provide further details on the characteristics of these diseases
On 30/04/2025
Spanish doctors have published the demographic, clinical, genetic and physiological data from the largest cohort of patients with distal myopathy. With 219 patients included, the…
Research
A significant advance in DMD cell therapy
On 29/04/2025
British researchers have succeeded in significantly improving the grafting of myogenic progenitor cells (MPC) into the muscle fibre of mouse models of Duchenne muscular dystrophy:…
Research
Towards a European register of autoimmune myasthenia gravis cases
On 29/04/2025
At a time when innovative therapies are being developed for refractory forms of autoimmune myasthenia gravis, the idea of setting up a European register is…
Research
Valproic acid improves exon skipping efficiency in DMD mouse models
On 28/04/2025
The major challenge of exon skipping therapy in Duchenne muscular dystrophy is to effectively deliver the antisense oligonucleotides to the targeted tissues, in this case…
Research
Repeated intrathecal injections of nusinersen and pain syndrome: can we anticipate its onset?
On 28/04/2025
South Korean researchers sought to identify predictive factors for the occurrence of a pain syndrome after long-term transforaminal injection of nusinernen in patients with SMA: 34…
Events
CARAC, premium partner of the future Foundation of Myology, visits the Institute
On 24/04/2025
On Wednesday 23 April 2025, the Institute of Myology was pleased to welcome the Chairman and Chief Executive of CARAC and around ten members of…
Research
An English study on mortality in SMA in the era of innovative therapies
On 21/04/2025
The UK consortium dedicated to the care of young patients with SMA has carried out a retrospective mortality study using data from the national SMA…
Research
CMT X1: positive results in mice with a new gene therapy
On 14/04/2025
A Cypriot team has developed a new gene therapy called AAVrh10-hMPZ.GJB1 aimed at restoring connexin 32 expression in X-linked Charcot-Marie-Tooth disease (CMT X1) and tested…
Events
Myobank-AFM, a key player in the field of myology research
On 07/04/2025
Myobank-AFM, the Institute of Myology’s biological resource centre, is offering patients a new donation card. This service, set up in 1996 to help researchers and…
Events
The Muscle Week 3rd edition will take place from 2 to 8 June
On 07/04/2025
The Institute of Myology and the AFM-Téléthon are launching the 3rd edition of Muscle Week, which will take place from 2 to 8 June. The…
Research
Axonal neuropathy with hereditary neuromyotonia linked to MPZ
On 07/04/2025
Until now, only recessive mutations in the HINT1 gene have been implicated in a form of axonal neuropathy with hereditary neuromyotonia. A Greek team reports…
Research
Idiopathic myositis: an increased and early risk of cardiovascular events in cases of cardiac involvement at diagnosis
On 04/04/2025
The Hôpital Saint-Antoine (Paris) conducted a retrospective study between 1997 and 2020 of 78 patients with idiopathic inflammatory myopathy (myositis). Of these, 42% had dermatomyositis,…
Research
A comparative study of costs between nusinersen and onasemnogene abeparvovec
On 04/04/2025
In association with the Novartis laboratory, which markets the onasemnogene abepavovec or OA (a gene therapy product prescribed for infantile spinal muscular atrophy linked to…
Research
Spinal cord epidural stimulation proves effective in type III SMA
On 04/04/2025
An initial study evaluated epidural stimulation of the spinal cord in three patients with type III spinal muscular atrophy (SMA). While motor deficits may persist…
Research
A candidate biomarker for mitochondrial diseases: serum chitotriosidase 1
On 03/04/2025
Elevation of serum chitotriosidase is a biomarker of lysosomal diseases, particularly in Niemann-Pick disease. Recently, the lysosomal component of mitochondrial diseases has been discussed. Serum…
Research
A large proportion of MNM patients in favour of telemedicine, despite some reluctance
On 02/04/2025
A French study collected data from 103 adults with a slowly progressive neuromuscular disease who had been using non-invasive ventilation for at least six months,…
Research
The diagnostic yield of the Solve RD consortium is 12.6%
On 02/04/2025
The Solve-Rare Diseases (Solve RD) consortium brings together more than 300 clinicians, researchers and geneticists from 12 European countries and Canada. Their systematic re-analysis of…
Research
Impaired spermatogenesis in SMA
On 01/04/2025
For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before…
Research
Mexiletine is rarely prescribed in France for myotonia in children
On 01/04/2025
The network of French specialists in childhood myotonia was mobilised to find out how often and in what ways mexiletine is prescribed, even though it…
Research
Researchers from the Institute’s imaging laboratory at the SFRMBM conference
On 31/03/2025
Experts from the Institute’s NMR Laboratory – Spectroscopy Laboratory presented their work at the 7th scientific congress of the Société Française de Résonance Magnétique en…