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1385 news items
Research
About the economic interest of the compassionate use of innovative treatments
On 01/02/2022
Italian researchers and a Roche laboratory representative jointly analyzed the economic impact of compassionate use protocols for some innovative health products: two of the eleven…
Research
A book to explain Duchenne muscular dystrophy to affected children
On 31/01/2022
The team from the Marseille Neuromuscular Reference Centre has designed a small book for children with Duchenne muscular dystrophy (DMD). This didactic and abundantly illustrated…
Research
A pilot experiment in neonatal screening for primary carnitine deficiency
On 31/01/2022
Chinese clinicians from Fujian province screened 49 cases of primary carnitine deficiency at birth using a biochemical technique (tandem mass spectrometry). This neuromuscular condition is…
Research
CAP2: a new gene responsible for nemaline myopathy
On 28/01/2022
American researchers have identified, for the first time, a pathogenic variant of the CAP2 gene present in a heterozygous state in a sporadic form of…
Research
Back to the 26th Journées of the Francophone Society of the Peripheral Nerve
On 27/01/2022
The 26th “Journées of the Francophone Society of the Peripheral Nerve” took place on January 21 & 22, 2022 at the New Cap Event Center…
Research
ERN EURO-NMD webinar, Feb 3rd: Pr Cornelia Kornblum (Germany)
On 27/01/2022
An introduction into mitochondrial diseases in adulthood Thursday February 3rd, 2022 – 16:00-17:00 (Paris time) Pr Cornelia Kornblum (Bonn University/Universitary Clinic of Bonn, Germany) “Mitochondrial…
Research
Idiopathic inflammatory myopathies: links between interstitial lung disease and myositis-specific autoantibodies
On 25/01/2022
One of the most common extramuscular manifestations of idiopathic inflammatory myopathies is interstitial lung disease. In addition, the diagnosis of IMI includes the search for…
Research
Evaluation of a reference method to assess the function of the diaphragm
On 25/01/2022
The link between transdiaphragmatic pressure (TDP) and diaphragmatic thickening fraction (DTF) is a gold standard method for assessing diaphragmatic function that is not clearly established. …
Research
Charles Frison-Roche wins Oral Research Communication Prize awarded by SFM – Interview
On 24/01/2022
Charles Frison-Roche has received the Oral Research Communication Prize, awarded by the French Myology Society (SFM). He is a PhD student in the REDs team…
Research
Benefits of wheelchair hockey identified in SMA and DMD
On 24/01/2022
An Italian study of 25 men aged between 18 and 40 with SMA or DMD investigated the effects of playing wheelchair hockey on quality of…
Research
Circulating neurofilaments: a sensitive biomarker in SMA
On 20/01/2022
An American study carried out in 90 children under three with SMA evaluated the interest of quantifying circulating neurofilaments (NF) to detect the disease and…
Research
Alternative splicing helps control the plasticity of clathrin structures
On 20/01/2022
Depending on cell types, clathrin assembles into plaques or produces spherical structures for some unknown reason, just as we do not know how this plasticity…
Research
A first survey of limb-girdle muscular dystrophy in Mali
On 20/01/2022
The limb-girdle muscular dystrophies (LGMD) continue to be highly heterogeneous neuromuscular diseases, both in clinical and genetic terms. Exploring these disorders in Africa is not…
Research
The assessment of neuromuscular disease patients by physiotherapists is adapting to pandemic conditions
On 19/01/2022
The SARS-CoV-2 pandemic has disrupted hospital organisations, with respect to both care and clinical research. Physiotherapists essentially from the US and the UK report their…
Research
A case of necrotising autoimmune myopathy with inflammatory skin lesions
On 18/01/2022
Necrotising autoimmune myopathy (NAM) is caused by immune system deregulation. The inflammatory component is generally very low key, contrarily to the other types of autoimmune…
Research
A new non-invasive biomarker in SMA
On 18/01/2022
German researchers have developed a new tool intended to visualise and measure muscle loss in patients with SMN1-gene proximal spinal muscular atrophy (SMA). Multispectral optoacoustic…
Research
The iMAX helps to better evaluate motor axonal excitability in the neuropathies
On 17/01/2022
Four European University Hospitals have joined forces to develop a new electrophysiological technique to explore, in a simple and reproducible manner, motor axonal excitability, a…
Research
DMD as seen by caregivers: a new measurement tool is available
On 17/01/2022
The emotional weight and the burden of care affect the quality of life of caregivers of patients with Duchenne muscular dystrophy (DMD). An American team…
Research
BET1, a new congenital muscular dystrophy gene identified
On 14/01/2022
Most congenital muscular dystrophies (CMDs) are caused by abnormalities on a number of recessive genes, many of which relate to glycosylation of alpha-dystroglycan. Based on…
Research
How to optimise gene therapy by AAV in humans, from an immunological point of view?
On 12/01/2022
At a time of unprecedented development of AAV-based gene therapies in neuromuscular disease, and in view of the difficulties encountered during therapeutic trials and in…