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1678 news items
Events
30 September: LGMD Awareness Day
On 23/09/2024
The 10th Limb Girdle Muscular Dystrophy Awareness Day will take place on 30 September. Organised by the LGMD Awareness Foundation, the aim of this day…
Research
A unique microscopy technology has revealed previously unknown mechanisms of endocytosis in the axon – Interview with Stéphane Vassilopoulos
On 23/09/2024
Satish Babu Moparthi, post-doctoral fellow, and Stéphane Vassilopoulos, co-director of the ‘Muscle cell organization and therapy of dominant centronuclear myopathy‘ team at the Research Centre of…
Research
Cardiovascular damage in McArdle’s disease
On 23/09/2024
A review of the literature on cardiovascular damage in McArdle disease, or type V glycogenosis, shows that : 21 cases have been described, including 18…
Events
Fête de la Science from 4 to 14 October
On 19/09/2024
Organised every year by the Ministry of Higher Education and Research, the event aims to give everyone the chance to discover the world of science…
Research
Losmapimod fails in facioscapulohumeral myopathy
On 19/09/2024
The initial results of the REACH Phase III placebo-controlled trial evaluating losmapimod in 260 adults with FSHD1 or FSHD2 over one year have just been…
Events
The Fondation Leducq has recently awarded funding to the PRIORITY international network of excellence, coordinated by Dr Gisèle Bonne.
On 18/09/2024
The PRIORITY international network of excellence has just been awarded an $8,000,000 grant from the Fondation Leducq. PRIORITY is a research consortium of 8 partners,…
Research
The relationship between muscle strength and function in the upper limb now better established in DMD and SMA
On 18/09/2024
Researchers coordinated by the Institute of Myology have studied the threshold of muscle strength loss beyond which motor function is compromised in the hand: 91…
Research
Congenital myasthenic syndrome linked to CHRNE: forms of variable severity
On 16/09/2024
A phenotypic study of a series of 91 Bulgarian Roma patients with congenital myasthenic syndrome linked to the homozygous c.1327delG mutation of the CHRNE gene,…
Research
Description of a fifth family of type 4 distal oculopharyngeal myopathy
On 13/09/2024
Distal oculopharyngeal myopathy (DOPM) type 4 is due to a CGG repeat expansion in the RILP1 gene. First described in 2022, it has only been…
Research
A comparison focusing on thymic histology between different cohorts of myasthenia gravis
On 12/09/2024
Researchers at the Institute of Myology used a French database to compare early-onset (217) and classic forms of myasthenia (721): the files from this database…
Research
The SH3 domain interactome of amphiphysin 2 in centronuclear myopathies
On 12/09/2024
While amphiphysin 2 uses its BAR domain to anchor to cell membranes and cause them to bend, it also has an SH3 domain at the…
Research
What about the use of statins in hereditary myopathies?
On 11/09/2024
An Israeli expert in neuromuscular diseases has examined the still controversial issue of statins in routine myological practice. Based on the literature, the author draws…
Research
The links between muscular dystrophy and TRAPPC11 are becoming clearer
On 10/09/2024
The TRAPPC11 gene encodes a component of a protein complex involved in intracellular trafficking between the Golgi apparatus and the endoplasmic reticulum. Czech researchers have…
Events
M&M’s – Muscle Monday Seminar – 19 September – Fabien Le Grand (France) – Postponed
On 09/09/2024
We are sorry to inform you that the seminar has been postponed to a later date. Integrating in silico predictions with an engineered…
Research
The MYOCAPTURE project improves molecular understanding of congenital myopathies
On 09/09/2024
Between 2009 and 2018, whole exome sequencing of 310 families affected by congenital myopathy as part of the MYOCAPTURE project, supported by the AFM-Téléthon, identified…
Events
World Duchenne Awareness Day on 7 September
On 07/09/2024
World Duchenne Muscular Dystrophy Day provides an opportunity to note the acceleration in the development of innovative therapies for this neuromuscular disease, which is the…
Research
New hypotheses on the pathophysiology of inclusion myositis
On 06/09/2024
The pathophysiology of inclusion body myositis (IBM) remains poorly understood. Against this background, American researchers have put forward some new hypotheses: their study looked at…
Research
Real-life study confirms the place of eculizumab in myasthenia gravis
On 06/09/2024
The retrospective multicentre ELEVATE study in the United States involved 14 myologists and neurologists who prescribed eculizumab to 119 of their patients suffering from Myasthenia…
Research
Does thymectomy have harmful long-term consequences?
On 06/09/2024
A retrospective study recently published in the New England Journal of Medicine has raised the question of an increased long-term risk, in terms of cancer,…
Research
DMD: a gene therapy strategy more effective than microdystrophin in mdx mice
On 05/09/2024
Within a month of each other, a German-American and a Chinese-American team published the proof of concept of a gene therapy strategy leading to the…