Our science & medical news
RSS feedInstitute researchers at the Ottawa NMD 2023 conference
Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Communications : Friday 8 September Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment Giorgia Querin, MD/PhD – Innovative treatments in NMD: the beginning of a new era? Saturday 9 September Session … [Read more]
Caveolinopathy: clinical, histological and muscle imaging characteristics and follow-up of a multicentre retrospective cohort
Caveolinopathies are a small group of neuromuscular diseases associated with dysfunction of a family of proteins located in muscle membrane crevices. The most common caveolinopathy is due to a deficiency of caveolin-3 and results in an autosomal dominant muscular dystrophy and a very specific rippling phenomenon (muscle undulations on contraction or percussion of the muscle). … [Read more]
Effects of valproic acid on skeletal muscle in two mouse models of DMD
Skeletal muscles in animal models of Duchenne muscular dystrophy (DMD) are more sensitive to contraction-induced functional loss, which is not related to fatigue. Valproic acid (VPA) is thought to improve serological and histological markers of damage in dystrophin-deficient murine muscles. A French study involving researchers from the Institute tested the ability of VPA to reduce … [Read more]
Description of a French cohort of patients with caveolinopathy
A group of French clinicians and geneticists, including experts from the Institute of Myology, are reporting the clinical and biological data from a large cohort of patients diagnosed with CAV3-related myopathy. twenty-three patients from 16 different families were included in the study, the average follow-up was 24 years, exercise intolerance was the most common symptom, … [Read more]
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences
Bruno Cadot, a researcher in the “Physiopathology & therapy of autosomal dominant centronuclear myopathy” team led by Marc Bitoun at the Myology Research Centre, has just been awarded the Tremplin ASEAN prize by the French Ministry of Higher Education and Research and the French Academy of Sciences. This prize rewards existing cooperation between two teams, … [Read more]
DM1: a promising new approach to gene therapy
Myotonic dystrophy type 1 (DM1), also known as Steinert disease, is a neuromuscular disorder. This rare genetic disorder affects around one in 8,000 people, making it the most common muscular disease in adults. DM1 is characterised by multi-systemic symptoms, particularly in skeletal muscles (progressive weakness and atrophy, myotonia), cardiac muscle (conduction disorders) and the central … [Read more]
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference
Several members of the NMR Laboratory presented the team’s work at the annual ISMRM (International Society for Magnetic Resonance in Medicine) conference, held in Toronto from June 3 to 8, 2023. Communications Eléonore Vermeulen : Quantification of muscle fat fraction and water T2 via RF phase-modulated 3D gradient-echo imaging Constantin Slioussarenko : A steady-state MRF … [Read more]
International guidelines for VCP myopathies
Mutations in the VCP gene encoding valosin-containing protein cause complex neurodegenerative clinical pictures almost invariably associated with myopathy. An international consortium of experts, two of whom belong to the Institut de Myologie in Paris, has drawn up recommendations for this myopathy, which remains rare: A preliminary analysis of the literature was carried out and distributed … [Read more]
Description of the first Franco-Swiss cohort in SORD-related peripheral neuropathy
Defects in the SORD gene lead to hereditary distal motor neuropathy (dHMN type) or distal sensory-motor neuropathy (Charco-Marie-Tooth type). Discovered in 2020, there are still few cohorts of patients described in the literature. Experts from the FILNEMUS network, in association with their Swiss colleagues, published a cohort of 30 patients in March 2023: These patients … [Read more]
Introduction to research in myology at the Institute for SU medical students – Interview with Guillaume Bassez
The Institute welcomed its first class of medical students for an introduction to research in the field of myology in April 2023. This week of training, which is part of the medical curriculum at Sorbonne University, was organised by Guillaume Bassez, neurologist and head of a research group in the Repeat Expansions & Myotonic Dystrophy … [Read more]
