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1677 news items
Research
Whole genome screening may be useful in the molecular diagnosis of CMT
On 04/07/2023
The diagnostic yield of standard genetic studies for Charcot-Marie-Tooth (CMT) disease remains relatively poor despite the use of high-throughput sequencing (NGS). South Korean researchers have…
Events
Bruno Cadot wins the Tremplin ASEAN prize awarded by the French Ministry of Higher Education and Research and the French Academy of Sciences
On 03/07/2023
Bruno Cadot, a researcher in the “Physiopathology & therapy of autosomal dominant centronuclear myopathy” team led by Marc Bitoun at the Myology Research Centre, has…
Research
New results from the STRIDE study with ataluren in DMD
On 03/07/2023
The STRIDE study aims to investigate the long-term real-life data of people with Duchenne muscular dystrophy with a nonsense genetic abnormality on the DMD gene…
Research
Chimeric proteins improve peripheral neuropathy in the mouse model of CMD 1A
On 30/06/2023
While the expression of artificial binding proteins specifically in muscle tissue improves the dystrophic phenotype and compensates for LAMA2 deficiency in DMC 1A mouse models,…
Events
Fabrice Chrétien appointed Director of Scientific Strategy at the Institute of Myology
On 30/06/2023
The aim of the Foundation of Myology project is to give new impetus to myology by broadening its scope to include muscle in all its forms,…
Research
Extended-release aceneuramic acid is beneficial in GNE myopathy in Japan
On 30/06/2023
A Japanese multicentre, placebo-controlled phase II/III trial has shown that 6 g/day of extended-release sialic acid for 48 weeks is effective on upper limb muscle…
Events
ERN EURO-NMD webinar, 6th July – Prof. Karim Wahbi (France)
On 29/06/2023
Cardiac Involvement in Neuromuscular Diseases 6th July 2023 at 16:00 Paris Time Prof. Karim Wahbi, PhD, MD (APHP Hospital Cochin, Paris, Institute of Myology, Paris,…
Research
Elevidys, the first microdystrophin gene therapy authorised for DMD, subject to conditions
On 29/06/2023
On 22 June 2023, Sarepta Therapeutics announced that it had received marketing authorisation from the FDA for Elevidys (delandistrogene moxeparvovec-rokl or SRP-9001), the company’s microdystrophin…
Research
Treating riboflavin transporter deficiency before birth
On 27/06/2023
The little brother of a young boy with riboflavin transporter deficiency who had the same mutation in the SLC52A3 gene responsible for the disease was…
Research
Pompe disease: positive results from the COMET trial
On 26/06/2023
Following an initial double-blind phase of the COMET trial, which compared the efficacy and safety of avalglucosidase alfa (Nexviadyme) to alglucosidase alfa (Myozyme), all participants…
Research
DM1: a promising new approach to gene therapy
On 22/06/2023
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…
Research
DMD: first study of DEC cell therapy in humans
On 19/06/2023
A Polish-American team, in collaboration with the Dystrogen Therapeutics laboratory, has just published the results of the administration to patients suffering from Duchenne muscular dystrophy…
Research
Researchers from the Institute’s NMR laboratory at the ISMRM 2023 conference
On 15/06/2023
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…
Research
A significant proportion of fibromyalgia patients are positive for antibodies specific to or associated with myositis
On 15/06/2023
An Italian team assessed the prevalence of myositis-specific or myositis-associated autoantibodies in 233 people aged 57 on average, with fibromyalgia defined by the 2016 criteria…
Events
Summer School of Myology: For 25 years, 1,000 medical doctors from all over the world have been training in muscle science and medicine
On 14/06/2023
In 1998, the Institute of Myology, an international center of expertise on muscle, created the Summer School of Myology with the aim of disseminating knowledge…
Research
Juvenile myasthenia is different from adult myasthenia and has a relatively benign course
On 13/06/2023
A review of the literature has enabled Chinese clinicians to carry out a meta-analysis of data from 1,109 patients with juvenile myasthenia published in 11…
Research
Risk of myocarditis identified in primates receiving gene therapy for Pompe disease
On 12/06/2023
As part of animal toxicity studies prior to the launch of a gene therapy clinical trial for Pompe disease, researchers at the University of Pennsylvania…
Research
Muscle tremor is no longer the exclusive preserve of the MYBPC1 gene
On 09/06/2023
An autosomal dominant hereditary myopathy with, phenotypically, a very marked tremor in the foreground has recently been described and linked to the MYBPC1 gene encoding…
Research
Vitamin and mineral deficiencies in FSH
On 08/06/2023
A study of the nutritional status of 159 patients with facioscapulohumeral myopathy (FSHD), 74 women and 85 men, revealed : a varied and balanced diet,…
Research
American guidelines for better assessment criteria in the evaluation of myasthenia gravis
On 08/06/2023
The quality, and therefore the reliability, of outcome measures of the severity and/or progression of myasthenia gravis (MG) sometimes it comes up a little short,…