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Research
An overview of non-invasive ventilation in children with NMD
On 02/07/2021
A significant number of neuromuscular diseases, foremost among them spinal muscular atrophy, Duchenne muscular dystrophy and certain congenital myopathies, are accompanied by restrictive respiratory disorders.…
Research
Domagrozumab (PF-06252616) is not more efficacious than FKRP-related LGMDR9
On 02/07/2021
While the anti-myostatin agents appear to be a tempting approach to restoring muscle in neuromuscular patients, of all the clinical trials in humans involving different…
Research
DM1 and non-invasive home ventilation: does compliance with treatment influence mortality?
On 02/07/2021
DM1 is a relatively common genetic disease inherited in an autosomal dominant mode. There are several types of DM1 depending on the age of onset:…
Events
The Institute is recruiting a Postdoctoral fellow (SLA) for the Centre for Research in Myology
On 01/07/2021
The “Biotherapies for motor neuron disorders group” (BOND) is looking for a postdoctoral fellow to lead a preclinical research project on the evaluation of the…
Events
The Institute is recruiting a Postdoctoral fellow (SMA) for the Centre for Research in Myology
On 01/07/2021
The “Biotherapies for motor neuron disorders group” (BOND) is looking for a postdoctoral fellow to lead a research project on the understanding of novel molecular…
Research
Pompe disease: a meta-analysis confirms the benefits of enzyme therapy in late-onset forms, but with more impact on walking than on breathing or muscle strength
On 01/07/2021
Pompe disease (or Glycogen-storage disease type II) is a metabolic myopathy characterised by a deficiency of acid maltase or acid alpha-glucosidase, an enzyme that is…
Events
M&M’s – Muscle Monday Seminar – 5 July – Silvère M van der Maarel (The Netherlands)
On 29/06/2021
Facioscapulohumeral muscular dystrophy: a monogenic disease with marked clinical, genetic and nuclear heterogeneity Monday July 5th 2021 from 12 am to 1 pm Silvère M van…
Research
A new form of muscular dystrophy identified using high throughput sequencing
On 29/06/2021
There are still many cases of orphan hereditary neuromuscular diseases. This results in diagnostic error that is often harmful to the care of the patient…
Research
A minimum of two and a half hours of exercise per week would be beneficial in Myasthenia gravis
On 24/06/2021
Myasthenia gravis is a neuromuscular disease linked to the deleterious effects of autoantibodies directed against elements of the neuromuscular junction, mainly the acetylcholine receptor located…
Research
Significant association between nutritional status and respiratory status
On 24/06/2021
A close relationship between nutritional status and respiratory muscle function has been demonstrated by clinicians at Raymond Poincaré Hospital (Garches) in 117 adults with Duchenne…
Events
M&M’s – Muscle Monday Seminar – 28 June – Rosanna Piccirillo (Italy)
On 22/06/2021
Exercise-induced myokines against muscle wasting during cancer Monday June 28th 2021 from 2 to 3 pm. Rosanna Piccirillo (Head of the “Neuromuscular Dysfunctions Unit” at Mario…
Research
A case of autoimmune necrotizing myopathy possibly linked to Covid-19
On 17/06/2021
Autoimmune necrotizing inflammatory myopathy has a special place among autoimmune muscle diseases. Recently described, this entity is diagnosed on muscle biopsy with aspects more necrosis…
Events
M&M’s – Muscle Monday Seminar – 21 juin – Diane Mathis (Etats-Unis)
On 15/06/2021
The dynamic roles of regulatory T cells in murine skeletal muscle regeneration Monday June 21st 2021 from 2pm to 3 pm. Diane Mathis (Professor of Immunobiology…
Research
SMA: A very useful compilation of medico-economic studies
On 14/06/2021
SMA has recently experienced a spectacular acceleration at the therapeutic level. Genetically determined, this neuromuscular disease causes paralysis related to the degeneration of peripheral motor…
Research
Completely and spontaneously reversible mitochondrial myopathy: an extremely rare case
On 11/06/2021
The literature has already reported a form of mitochondrial myopathy in the newborn, which has the particularity of being self-limiting. This improvement is related to…
Events
M&M’s – Muscle Monday Seminar – 14 June – Shin’ichi Takeda (Japan)
On 08/06/2021
Muscle stem cells and regenerative medicine Monday June 14th 2021 from 12 am to 1 pm Shin’ichi Takeda (Director General Emeritus of Department Molecular Therapy, National Institute…
Events
ERN EURO-NMD webinar, 10 June: Alain Geille, Prof. Baziel van Engelen, Prof. Peter-Bram ‘t Hoen
On 08/06/2021
Webinar organised by EURO-NMD in collaboration with ERN-RND and EAN. Thursday June 10, 2021 – 6:00-17:00 (Paris time) Addressing disease heterogeneity in myotonic…
Events
Interview with France Pietri-Rouxel on a French radio
On 04/06/2021
France Pietri-Rouxel, leader of the Gene Therapy for DMD & Skeletal Muscle Pathophysiology Group at the Myology Centre for Research of the institute was the…
Research
The attitudes and expectations of patients with SMA are changing with regard to innovative therapies
On 04/06/2021
SMA is currently experiencing a therapeutic revolution, with more and more new molecules on the market or about to be approved. This crippling neuromuscular disease…
Research
A retrospective study from Nantes University Hospital characterizes severe cardiac involvement in women transmitting DMD
On 04/06/2021
A team from Nantes University Hospital is launching a retrospective study, led by Prof. Sandra Mercier, geneticist, to describe the forms of severe heart failure…