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1655 news items
Events
AcadeMYO 2022: registration opens on 1st June
On 25/05/2022
AcadeMYO, the digital version of the Summer School of Myology, will take place from 11 to 13 July 2022. Registration will be possible from June…
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…
Events
A post-doctoral position is available at the Institute’s Myology Centre for Research
On 24/05/2022
A two-year fully funded post-doctoral fellowship position sponsored by ANR will be available at the Myology Research Center in the group of Stéphane Vassilopoulos to…
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…
Events
€ 68,000 raised through the HOPE dance gala
On 23/05/2022
We are proud and very grateful to have received on 18 May Laura Arend, Christian Arend and Charlotte Ranson who presented us with the generous…
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…
Research
RYR1-related congenital multi-minicore myopathy: proof of concept in mice for a pharmacological treatment targeting epigenetic changes
On 11/05/2022
A Swiss team has created a mouse model of RYR1-related congenital multi-minicore myopathy with a heterozygous mutation of RYR1 that is isogenic to the one…
Events
M&M’s – Muscle Monday Seminar – 16 May – Shahragim Tajbakhsh (France)
On 10/05/2022
Unique features of craniofacial muscle biology provide insights into disease Monday May 16th, 2022 – 12h-13h Shahragim Tajbakhsh (Stem Cells & Development, Dept. of Developmental…
Research
ERN EURO-NMD webinar, May 12th: Pr Michelangelo Mancuso (Italy)
On 09/05/2022
Primary Mitochondrial Myopathies Thursday May 12th, 2022 – 16:00-17:00 (Paris time) Prof. Michelangelo Mancuso (Neurologist at the Neurological Clinic of Cisanello Hospital and Associate Professor of Neurology…
Research
Triheptanoin does not improve physical performance in people with Tarui disease
On 09/05/2022
In a double-blind, placebo-controlled crossover trial, a Danish team evaluated the effects of 14 days of tripheptanoin in three people with phosphofructokinase deficiency (PFKD) or…
Research
Ciprofibrate or bezafibrate combined with choline reduces myocyte damage in the mouse model of megaconic CMD
On 09/05/2022
Choline kinase beta (CHKB) catalyses the first step in the formation of phosphatidylcholine, a major component of eukaryotic cell membranes. Its deficiency leads to the…
Research
Overexpression of BIN1 proves successful in the mouse model of DNM2-related centronuclear myopathy
On 06/05/2022
The interaction of amphiphysin 2 (encoded by the BIN1 gene) and dynamin 2 (encoded by the DNM2 gene) is necessary for membrane fission: amphiphysin 2…