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1385 news items
Research
Presymptomatic treatment of SMA with four or more SMN2 copies?
On 09/06/2022
Two American teams, one from Boston and the other from New York, have compared their points of view on the thorny question of whether or…
Research
An experimental neuropsychological test for DMD
On 09/06/2022
Based on previous work with mdx mice, the model animal for Duchenne muscular dystrophy (DMD), British researchers have developed a test for humans based on…
Research
A very late-onset form of SMA-LED
On 07/06/2022
Spinal muscular atrophy with lower extremity dominance (SMA-LED) is an ultra-rare distal spinal muscular atrophy initially described in children. Two distinct genes, DYNC1H1 and BICD2,…
Research
Two Malian contributions to a better understanding of CMT in Africa
On 03/06/2022
Africa is, relatively speaking, a kind of terra incognita for neuromuscular diseases in general and Charcot-Marie-Tooth disease (CMT) in particular. Researchers from Mali have recently…
Research
Study confirms uneven geographical distribution of myositis cases in the USA
On 03/06/2022
American researchers analysed the prevalence and typology of myositis in the United States over the period 1986-2011 from a federal patient registry. They were particularly…
Research
Native Americans at higher risk of statin-related autoimmune necrotizing myopathy
On 02/06/2022
Necrotizing autoimmune myopathy (NAM) is a relatively common form of myositis and is diagnosed based on the positivity of autoantibodies to HMGCR and/or SRP protein.…
Research
Searching for the optimal corticosteroid therapy in DMD
On 02/06/2022
Although long-term corticosteroid therapy is a commonly accepted standard of care in Duchenne muscular dystrophy (DMD), its modalities are still debated. An essai international multicentrique…
Research
A therapeutic approach for polyglucosan or glycogen overload diseases
On 02/06/2022
Adult polyglucosan inclusion disease (APBD) and Lafora’s disease are two neurological diseases with an overload of abnormal glycogen (polyglucosan). In the absence of a branching…
Research
Almost one third of BMD patients have cognitive or neuropsychiatric disorders
On 30/05/2022
An Italian team conducted a review of the literature published after 1995 on cognitive, behavioural and psychosocial disorders in people with Becker muscular dystrophy (BMD).…
Research
New roles for CaVβs subunits in the regulation of gene expression and cellular homeostasis
On 25/05/2022
. Voltage-gated calcium channels (CaVs or VGCCs) regulate intracellular calcium homeostasis. . Their activation by electrical activity leads to changes in intracellular Ca2+ levels regulating,…
Research
The institute was present at the 14th MGFA International Conference on Myasthenia and Related Disorders
On 24/05/2022
The 14th International Conference on Myasthenia Gravis and Related Disorders organised by the Myasthenia Gravis Foundation of America (MGFA) took place from 10 to 12…
Research
Researchers from the Institute’s NMR laboratory at the ISMRM 2022 conference
On 24/05/2022
The 31st ISMRM (International Society for Magnetic Resonance in Medicine) congress was held in London from 7 to 12 May 2022. Researchers from the NMR…
Research
Launch of the 1st European gene therapy clinical trial in LGMD linked to FKRP
On 23/05/2022
The first European gene therapy trial in limb-girdle muscular dystrophy linked to the FKRP gene (LGMD2I/R9) has just started. This is a multicentre phase 1-2…
Research
Andersen-Tawil syndrome: phenotypical variability and atypical presentations in a French cohort
On 23/05/2022
Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy linked to mutations in the KCNJ2 gene. This syndrome combines to varying degrees the clinical triad of…
Research
Effects of Prox1 overexpression in mdx dystrophic muscle
On 20/05/2022
In Duchenne muscular dystrophy, increased muscle fragility appears to be the cause of muscle stem cell depletion, which leads to muscle wasting and thus muscle…
Research
Endothelin: a new player in muscle fibrosis – Interview with Capucine Trollet
On 19/05/2022
Mona Bensalah completed her thesis under the supervision of Elisa Negroni and Vincent Mouly in the team “Cellular and molecular orchestration in muscle regeneration, during…
Research
International guidelines for the management of CMT in children
On 19/05/2022
Guidelines for the management of children with Charcot-Marie-Tooth disease have been published. No drug treatment has been proven to be effective (including high dose vitamin…
Research
The time to diagnosis of DMD has not shortened in the US in the last 20 years
On 18/05/2022
It still takes 2.2 years from the first signs of the disease to the confirmation of the genetic diagnosis of Duchenne muscular dystrophy (DMD). This…
Research
Late-onset MADD: a polymorphic clinical picture that responds to riboflavin
On 16/05/2022
An Italian team reports data from a series of 10 patients (seven men) with late-onset multiple acyl-CoA dehydrogenase deficiency (MADD), with no family history. Symptoms…
Research
Gene therapy extinction of the dominant centronuclear myopathy mutation is still effective one year later in mice
On 12/05/2022
The proof of concept of an early treatment with an siRNA specifically silencing the mutated allele of the DNM2 gene in a mouse model and…