MYOBASE

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MYOBASE THE BIBLIOGRAPHIC DATABASE ON NEUROMUSCULAR DISORDERS

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What is a neuromuscular disease?

A neuromuscular disease is a genetic, inflammatory or autoimmune, rare, progressive and severely disabling illness.
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ABOUT MYOBASE

Myobase is implemented by  AFM-Téléthon library which has been collecting documents on Neuromuscular Disorders since 1990.
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How to use Myobase ?

INSTITUTE OF MYOLOGY NEWSLETTERS


SMA: Positive opinion for European marketing authorization for SpinrazaTM

The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency adopted a positive opinion for SpinrazaTM, a first step towards market authorisation. The European Medicines Agency (EMA) Committee on Medicinal Products for Human Use (CHMP) issued a positive opinion on the Marketing Authorisation Application (MAA) in Europe for SpinrazaTM (or nusinersen) … [Read more]

Cet article SMA: Positive opinion for European marketing authorization for SpinrazaTM est apparu en premier sur Institut de Myologie.


Mutations in INPP5K mutations and Congenital Muscular Dystrophy

  Congenital muscular dystrophies display a wide phenotypic and genetic heterogeneity. The combination of clinical, biochemical, and molecular genetic findings must be considered to obtain the precise diagnosis and provide appropriate genetic counselling. Here, the authors report five individuals from four families presenting with variable clinical features including muscular dystrophy with a reduction in dystroglycan … [Read more]

Cet article Mutations in INPP5K mutations and Congenital Muscular Dystrophy est apparu en premier sur Institut de Myologie.


Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease

  BAG3 (Bcl-2 associated athanogene-3) mutations have been described in rare cases of rapidly progressive myofibrillar myopathies. Symptoms begin in the first decade with axial involvement and contractures and are associated with cardiac and respiratory impairment in the second decade. Axonal neuropathy has been documented, but usually not as a key clinical feature. Here, the … [Read more]

Cet article Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


Concours Fablife : les inscriptions sont ouvertes
Vie quotidienne
L'édition 2017 du concours Fablife (anciennement Papas bricoleurs) est lancée. Si vous avez des idées pour améliorer l'autonomie de personnes en situation de handicap, inscrivez-vous.

Myosite à inclusion : résultats du premier essai de thérapie génique
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Maladies
Résultats positifs dans la myosite à inclusions du premier essai de thérapie génique apportant le gène de la follistatine dans les muscles.

Tour auto Optic 2ooo, c'est parti !
Partenariat
Du 24 au 30 avril, 240 équipages du Tour Auto Optic 2ooo parcourront les routes de France entre Paris et Biarritz. L'AFM-Téléthon sera présente sur les villes étapes (Saint-Malo, Nantes, Limoges, Toulouse et Biarritz) pour faire partager quelques expériences aux scientifiques en herbe.