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1699 news items
Research
Cytoskeletal involvement in dilated cardiomyopathy caused by LMNA gene mutations – Interview with Caroline Le Dour
On 18/01/2023
Caroline Le Dour is a post-doctoral fellow in the Signaling Pathways & Striated Muscles team led by Antoine Muchir, at the Institute’s Myology Centre for…
Research
Miniaturised “organ-on-chip” for muscle dystrophy modelling
On 18/01/2023
Quantifying functional contraction of skeletal muscle is essential to assess the outcome of therapies in neuromuscular diseases. Three-dimensional muscle “organ-on-chip” models imitate muscle function but…
Research
A new genomic sequencing technique for the diagnosis of FSH
On 18/01/2023
The molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD) is challenging due to the existence of complex alterations in the 4qter chromosomal region and the genetic…
Events
Crossed views on the evaluation and expected benefits of the use of exoskeletons
On 17/01/2023
These videos are obtained from the Ambition Fondation de Myologie website.
Research
Fibrodysplasia ossificans progressiva (FOP): proof of concept of gene therapy in mice
On 17/01/2023
An American team has successfully tested the transfer of the ACVR1 gene, the transfer of an allele-specific silencing microRNA ACVR1R206H, and the combination of both.…
Research
Higher incidence of gastrointestinal cancer in FSHD?
On 16/01/2023
A small-scale study involving 31 adults with FSH and 30 without showed, with regard to extra-muscular manifestations: the incidence of gastrointestinal cancer (gastric or colorectal)…
Research
Depression and anxiety are common and under-diagnosed in autoimmune myasthenia gravis
On 16/01/2023
The results of a study conducted in Germany among 1,399 patients with autoimmune myasthenia and 1,042 of their caregivers show : the high frequency of…
Research
An unusual case of early cardiac involvement of multi-factorial origin in DMD
On 13/01/2023
Israeli clinicians report a highly original observation of a child diagnosed with Duchenne muscular dystrophy (DMD) at the age of 18 months, but whose cardiological…
Research
Non-invasive ventilation in children in France: focus on neuromuscular diseases
On 13/01/2023
A cross-sectional study was conducted in June 2019 by the French pediatric “NIV/CPAP” network, which brings together 27 pediatric academic centers in 24 French cities.…
Research
Creatine phosphokinase and creatine levels decrease with corticosteroid therapy in DMD
On 12/01/2023
American researchers studied over one year the variations of creatine phosphokinase (CPK) and creatine levels in a cohort of children and adolescents with Duchenne muscular…
Research
Contrasting results of two cell therapies targeting DMD in animals
On 12/01/2023
Two articles from two independent groups, Japanese and Korean, illustrate the difficulties faced in preclinical studies of cell therapy in Duchenne muscular dystrophy (DMD): the…
Research
Telemedicine and Covid19 : a rather positive change in practices
On 11/01/2023
The recent SARS-CoV-2 pandemic has led to significant changes in the doctor-patient relationship, thanks in particular to new remote medicine technologies. The European Network of…
Research
Proprioceptive and vestibular damage contributes to falls in DM1
On 11/01/2023
The balance and gait disorders in Steinert disease (or myotonic dystrophy type 1, DM1) have a multifactorial origin. While muscular damage contributes (in particular weakness…
Research
Proximal myopathy due to beta-galactosidase deficiency: a case report
On 10/01/2023
The manifestations of beta-galactosidase deficiency range from Morquio syndrome type B (mucopolysacharidosis type IVB manifesting as spondyloepiphyso-metaphyseal osteodysplasia) to GM1 gangliosidosis (a more or less…
Research
Vamorolone would be less harmful to bones and growth than prednisone in DMD, while having the same functional effectiveness
On 10/01/2023
Vamorolone, a dissociative synthetic steroid, co-developed by ReveraGen and Santhera, has been evaluated for its anti-inflammatory effects in Duchenne muscular dystrophy (DMD) in two trials.…
Research
Different seropositivity profiles depending on the AAV
On 09/01/2023
Gene replacement therapies for Duchenne muscular dystrophy (DMD) are based on viral vectors such as AAV (adenovirus-associated virus). An American study carried out on 101…
Research
Inflammatory myopathies: a review of mouse models
On 09/01/2023
Classical mouse models of experimental myositis were developed by immunising the animal with muscle-specific antigens, myosin or skeletal C protein. More recently, new mouse models…
Research
The value of muscle imaging in necrotising autoimmune myopathy
On 04/01/2023
Italian and Spanish researchers have studied muscle imaging by magnetic resonance (MRI) in a particular form of autoimmune myopathy often triggered by statin use (AINM…
Research
Positive anti-VCP autoantibodies in inclusion myositis
On 04/01/2023
Based on the observation that the VCP protein is mutated in a form of inclusion myopathy ( IBM) and that it is sometimes present in…
Research
Improvement of upper limb motor function in non-ambulant SMA type II or III on long-term nusinersen
On 04/01/2023
Longitudinal data from 256 individuals with genetically confirmed SMA treated with nusinersen (Spinraza) were extracted from the SMArtCARE registry. Before treatment was started : •…