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1385 news items
Research
The Institute’s clinicians and researchers in force at the ICNMD 2022 conference in Brussels
On 12/07/2022
The International Congress on Neuromuscular Diseases (ICNMD) was held in Brussels from 5 to 9 July 2022. The Institute of Myology was very well represented,…
Research
Acceleron abandons development of ACE-083 in FSH
On 12/07/2022
Facioscapulohumeral muscular dystrophy (FSH or FSHD) is characterised by a selective muscle deficit (muscles of the face, shoulders and arms). This characteristic was an advantage…
Research
Impact of frontal lobe damage on social dysfunction in DM1
On 11/07/2022
Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disease that affects muscular and extra-muscular systems, including the central nervous system. Brain damage in…
Research
New TMP3 variant: the phenotypic range of TMP3-related congenital myopathy expands
On 07/07/2022
Mutations in the tropomyosin 3 (TPM3) gene are associated with autosomal dominant and recessive nemaline 1 (NEM1) myopathy, congenital myopathy with disproportionate muscle fibre types…
Research
Muscle regeneration affects AAV vector transcription
On 06/07/2022
As part of the research on the molecular mechanisms that impact AAV vector expression in pathological muscle, the group of Sofia Benkhelifa-Ziyyat (research project leader/AIM)…
Events
The REDs team gathered for the IDMC-13 conference
On 01/07/2022
The 13th International Myotonic Dystrophy Consortium Congress (IDMC-13) took place from 22 to 25 June 2022. It should have been held both on-site in Osaka,…
Research
A major 13-year study of preconception counselling and prenatal diagnosis in FSH
On 30/06/2022
A retrospective study on the requests for preconception consultation or prenatal diagnosis made between January 2008 and December 2020 to the Genetic Counselling Service associated…
Research
Identification of a new communication pathway in the neuromuscular junction – Interview with Laure Strochlic
On 27/06/2022
A study conducted by the “Neuromuscular connectivity in health and pathologies” team led by Laure Strochlic and Bertrand Fontaine at the Institute’s Myology Centre for…
Research
Initial findings from the European registry for Lambert-Eaton syndrome
On 21/06/2022
Lambert-Eaton syndrome is an ultra-rare presynaptic myasthenic syndrome of autoimmune origin. A European registry has been established with the support of the pharmaceutical industry and…
Research
A setback in the use of monoclonal antibodies in FOP
On 20/06/2022
Fibrodysplasia ossificans progessiva (FOP) is an ultra-rare disease caused by a mutation, almost always identical, in the ACVR1 gene. This gene encodes a type I…
Research
An unexpected side effect of SMA gene therapy
On 17/06/2022
Side effects of the onasemnogene abeparvovec (OA), the gold standard for gene therapy of infants with SMA, are rare but potentially worrying. Italian clinicians report…
Research
International guidelines for heart rhythm disorders in NMD
On 16/06/2022
International specialists in neuromuscular pathology associated with cardiologists have established practical guidelines for rhythm disorders encountered in diseases such as Duchenne and Becker muscular dystrophies,…
Research
The responsibility of the HNRNPA2B1 gene confirmed in certain neuromuscular phenotypes
On 16/06/2022
HNRNPA2B1 belongs to a group of RNA-binding proteins (RBPs) whose pathological variants cause various disorders, in particular neuromuscular (SLA, distal myopathy or other). An international…
Research
A comparative study of muscle MRI in autoimmune myopathies
On 15/06/2022
Beijing researchers, in addition to clinical and immunological studies, have analysed muscle MRI images in a cohort of 168 Chinese patients with various forms of…
Research
ERN EURO-NMD webinar, June 16th: Prof. Dr. Stravos Kiliaridis, PhD (Switzerland)
On 14/06/2022
Jaw malformations and teeth malpositions in Neuromuscular Disease Thursday June 16th, 2022 – 16:00-17:00 (Paris time) Prof. Dr. Stravos Kiliaridis, PhD (University of Geneva & University of…
Research
A new biomarker for fibrosis in DMD
On 14/06/2022
The fibrosis constantly observed in the muscle of patients suffering from Duchenne muscular dystrophy (DMD) remains largely an enigma and is not easily accessible to…
Research
Thrombocytopenia and GNE myopathy: a not so fortuitous association
On 13/06/2022
GNE myopathy (GNEM) is a late-onset distal myopathy possibly related to sialic acid deficiency. Clinicians in China report the observation of a patient with GNEM…
Research
How reliable are the new myositis-specific antibody kits?
On 13/06/2022
The diagnosis of inflammatory myopathy is most often based on the positivity of autoantibodies in the bloodstream. Clinicians have diagnostic kits for this purpose but…
Research
French experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies
On 13/06/2022
Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the…
Research
Interferons as a first line in the pathophysiology of dermatomyositis
On 10/06/2022
French researchers have investigated the biological mechanisms involved in dermatomyositis (DM) by comparing muscle stem cells from patients and healthy subjects. They were particularly interested…