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1655 news items
Research
Bulbar impairment in Pompe’s disease better described
On 26/11/2024
Thanks to the national Pompe disease registry, French clinicians are now describing more precisely the bulbar impairment and its repercussions in Pompe disease. Out of…
Research
A severe form of myopathy linked to HNRNPA1 is possible in children
On 26/11/2024
The case of a little girl has overturned the reputation of adult diseases with phenotypes linked to mutations in the HNRNPA1 gene (amyotrophic lateral sclerosis,…
Research
Proof of concept for base editing in Pompe disease
On 25/11/2024
Base editing is a new genomic editing technique based on the CRISPR-Cas9 system, which makes it possible to modify just one target nucleotide in a…
Research
The type of muscle damage has no influence on the prognosis of scleroderma
On 22/11/2024
A multicentre retrospective study of 71 scleroderma patients who had undergone muscle biopsy found 46.5% with fibrosing myopathy, 25.5% with inflammatory myopathy and 28% with…
Events
AcadeMYO 9-11 December 2024: registrations are open until 4 december
On 21/11/2024
AcadeMYO offers a unique opportunity to perfect your knowledge of myology, the discipline devoted to neuromuscular science! Entirely online, AcadeMYO is conducted in English and…
Research
Gene therapies and liver toxicity: an update
On 21/11/2024
French and Belgian hepatologists from the Association Française pour l’Etude du Foie (AFEF) (French Association for the Study of the Liver) have taken stock of…
Research
A partial epidemiology of neuromuscular diseases in the Netherlands
On 20/11/2024
Dutch researchers have carried out a major epidemiological study to determine the prevalence and incidence of the main neuromuscular diseases in their country: incidence was…
Events
M&M’s – Muscle Monday Seminar – 25 Nov. – J. Andrew Berglund (USA)
On 19/11/2024
Selective reduction of toxic RNAs rescue splicing dysregulation across repeat expansion diseases Monday 25 November 2024 – from 12 to 1 pm Prof. J. Andrew…
Research
A US working group on the challenges and safety of gene therapy for neuromuscular diseases
On 19/11/2024
At the initiative of the Muscular Dystrophy Association (MDA), American experts have reviewed the successes and difficulties encountered with gene therapies mediated by adeno-associated viruses,…
Research
A study of the relationship between ambulation loss and the impact of corticosteroids on growth in DMD
On 18/11/2024
The UK consortium dedicated to Duchenne muscular dystrophy (DMD) reports the results of a retrospective study designed to investigate a possible link between the side-effects…
Research
Characterisation of distal digenic myopathy linked to TIA1 and SQSTM1
On 15/11/2024
The description of four new French cases of Welander-type distal myopathy and 20 cases from a review of the literature confirms the digenic nature of…
Research
Towards a better understanding of genotype/phenotype correlations in DMD
On 15/11/2024
American clinicians studied a large cohort of children followed at the only neuromuscular consultation in Cincinnati (USA) for Duchenne muscular dystrophy (DMD): 555 patients were…
Research
A case of immune-mediated necrotizing myopathy mimicking FSHD
On 14/11/2024
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered…
Research
Improving diagnosis and prognosis in DM1 and other short repeat expansions diseases with LRS – Interview with Stéphanie Tomé
On 14/11/2024
Stéphanie Tomé is a researcher in the Gourdon group within the Repeat Expansions & Myotonic Dystrophy (REDs) team at the Institute’s Center of Research in…
Research
Nerve imaging can help differentiate between acquired and inherited neuropathies
On 14/11/2024
New Zealand researchers used ultrasound to measure the cross-sectional area of the sural and fibular nerves in order to differentiate between acquired and hereditary nerve…
Events
M&M’s – Muscle Monday Seminar – 18 Nov. – Mani S. Mahadevan (USA)
On 12/11/2024
Cellular and Molecular Drivers of Fibrosis in RNA Toxicity Monday 18 November 2024 – from 12 to 1 pm Prof. Mani S. Mahadevan (University of…
Research
Targeted inhibition of ORAI1 reduces tubular aggregates in mice
On 08/11/2024
Tubular aggregate myopathy may be due to overactivation of Store Operated Ca2+ Entry (SOCE) as a result of a gain-of-function variant in the STIM1 or…
Research
Changes in screening criteria for late-onset Pompe disease in China
On 08/11/2024
An initial screening campaign for late-onset Pompe disease (LOPD) in China in 2022 showed, as a warning sign, a predominance of respiratory involvement and less…
Research
A promising ex vivo gene therapy for Pompe disease
On 07/11/2024
International researchers have developed a lentivirus-based gene therapy which they have tested in a mouse model of Pompe disease: the lentiviral vector is used to…
Research
Mavacamten for 4 weeks does not improve the condition of mice models of nebulin-related nemalin myopathy
On 06/11/2024
In muscle fibers from individuals with nebulin-related nemaline myopathy (NEB-NM) and in NEB-NM mouse models, the proportion of myosin in the disordered relaxed state and…