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Research
Physical training pays off in myotubular myopathy
On 07/03/2024
A 23-year-old Dutch man with a moderate form of X-linked mytotubular myopathy describes his experience of physical training and its benefits in a publication: inclusion…
Research
Some of the autoantibodies associated with myositis have prognostic value in juvenile forms
On 06/03/2024
British researchers studied the serum levels and distribution of myositis-associated autoantibodies (MAAs) in 551 patients previously diagnosed with juvenile myositis: 36% of patients had at…
Research
Contrasting trends in anti-MDA5 dermatomyositis
On 06/03/2024
Japanese researchers have studied data from 154 patients diagnosed with dermatomyositis (DM), with the presence of autoantibodies directed against the MDA5 (menaloma differentiation-associated gene) antigen:…
Research
Treatment of adult patients with SMA decided in MDTs
On 04/03/2024
In SMA, as the efficacy data collected on nusinersen and risdiplam have mainly concerned the pediatric population, there is as yet no consensus on treating…
Research
Gene therapy shows encouraging results in humans for limb-girdle muscular dystrophy linked to SGCB
On 01/03/2024
An ongoing clinical trial sponsored by Sarepta Therapeutics is investigating the safety and efficacy of SRP-9003 (rAAVrh74. MHCK7.hSGCB vector) following systemic infusion in six patients…
Research
A Marie Sklodowska-Curie European fellowship for Gabriele Ordazzo, postdoc researcher at the Institute
On 29/02/2024
The European Commission has awarded Gabriele Ordazzo, a postdoctoral researcher supervised by Mario Gomes-Pereira (Repeat Expansions & Myotonic Dystrophy team – Gourdon Group), with the…
Research
Titin fragments as biomarkers for DMD
On 29/02/2024
In order to identify a reliable biomarker for Duchenne muscular dystrophy (DMD), researchers associated with the Solid Biosciences laboratory have analysed the biological data of…
Research
An Iranian cohort of patients with muscular lipidosis
On 29/02/2024
Iranian researchers report the clinical and biological data from a series of nine patients diagnosed with PNPLA2 gene-related muscle lipidosis: the nine patients came from…
Research
A very rare form of Charcot-Marie-Tooth disease found in Africa
On 28/02/2024
In line with previous work on the prevalence of Charcot-Marie-Tooth (CMT) disease on the African continent, Malian and South African researchers report the observation of…
Research
RhoA protein may be an essential regulator of myoblast fusion
On 27/02/2024
Researchers in Paris have identified the important role played by RhoA, a member of the Rho-type GTPase superfamily already extensively studied in the field of…
Research
Mitochondrial abnormalities are at the core of the cardiac damage observed in desminopathies
On 27/02/2024
French researchers, supported by AFM-Téléthon, have been investigating the pathophysiological mechanisms behind the cardiopathies frequently observed in primary desminopathies, the most common form of myofibrillar…
Research
New failure of anti-myostatin therapy in DMD
On 26/02/2024
The investigators who conducted three clinical trials to test the efficacy and safety of taldefgrobep alpha (a myostatin-inhibiting molecule) in Duchenne muscular dystrophy (DMD) publish…
Research
A new gene for Fazio-Londe syndrome?
On 26/02/2024
Fazio-Londe syndrome (FL) and Brown-Vialetto-Van-Laere syndrome (BVVL), two very rare forms of bulbospinal muscular atrophy, have been considered until now as vitamin B2 transporter deficiencies,…
Research
The rs1800628 A allele of TNF-α, a risk factor for myasthenia and a lack of rapid response to corticosteroids
On 26/02/2024
A Chinese team studied TNF-α polymorphisms in 409 adults with autoimmune myasthenia and 487 controls. They found that : the rs1800628 A allele is significantly…
Research
An expert opinion on the (good) results of rozanolixizumab in myasthenia gravis
On 23/02/2024
Three neurologists from Toronto’s Centre for Neuromuscular Diseases have analyzed the findings of various trials of rozanolixizumab (Rystiggo®), a monoclonal antibody directed against neonatal Fc…
Research
Pregnancy planning: an effective way to reduce the serious maternal complications associated with myasthenia gravis
On 22/02/2024
A North American online study gathered 59 women who had 90 pregnancies in the decade following the diagnosis of autoimmune myasthenia : 62.2% of these…
Research
Publication of a review of the literature concerning neuromuscular complications in connection with vaccination against COVID-19
On 22/02/2024
An Iranian team has carried out an exhaustive review of the literature to determine the extent and nature of neuromuscular complications linked, directly or indirectly,…
Research
DYNE-101 trial in Steinert disease: preliminary results announced
On 21/02/2024
Dyne Therapeutics, the company developing the antisense oligonucleotide DYNE-101 for Steinert disease, has published initial results from its ongoing ACHIEVE trial. This is a Phase…
Research
Zolgensma results from the RESTORE register in SMA
On 21/02/2024
Sponsored by Novartis, the RESTORE registry collects data from patients with spinal muscular atrophy (SMA), in particular on one of three treatments (Zolgensma, Spinraza and…
Research
ATL1102, an antisense oligonucleotide being tested against inflammation in DMD
On 20/02/2024
CD49d production by CD49d+ T lymphocytes in diseased muscle contributes to increased inflammation, and its abundance is associated with greater severity of Duchenne muscular dystrophy.…