MYOBASE

  • FAQ
  • Français
logo AFM

MYOBASE THE BIBLIOGRAPHIC DATABASE ON NEUROMUSCULAR DISORDERS

logo myobase

What is a neuromuscular disease?

A neuromuscular disease is a genetic, inflammatory or autoimmune, rare, progressive and severely disabling illness.
> Read more

ABOUT MYOBASE

Myobase is implemented by  AFM-Téléthon library which has been collecting documents on Neuromuscular Disorders since 1990.
> Read more

Video tutorials

INSTITUTE OF MYOLOGY NEWSLETTERS


Sialic acid supplementation may stabilise muscle strength in subjects with GNE myopathy

  GNE Myopathy (GNEM) is a progressive adult-onset myopathy likely caused by deficiency of sialic acid (SA) biosynthesis. This Phase 2, randomised, double-blind, placebo-controlled study evaluated the efficacy and safety of SA (delivered by aceneuramic acid extended-release (Ace-ER)) versus placebo as a treatment for GNEM. Dose-dependent increases in serum SA levels were observed. Supplementation with … [Read more]

Cet article Sialic acid supplementation may stabilise muscle strength in subjects with GNE myopathy est apparu en premier sur Institut de Myologie.


Dominant MYOT mutations causes a more severe and proximal muscular dystrophy

Most myotilinopathy patients present with a dominant late onset distal phenotype and myofibrillar pathology, although the first MYOT mutation in a family reported to have LGMD phenotype. This paper reports a French family affected with a late onset proximal and distal muscle weakness and myofibrillar myopathy on muscle pathology, in which the siblings known to … [Read more]

Cet article Dominant MYOT mutations causes a more severe and proximal muscular dystrophy est apparu en premier sur Institut de Myologie.


European cross-sectional survey of current care practices for DMD

  The publication of standardised care guidelines in 2010 was an important step towards improving DMD patient care. These guidelines were reproduced as "family guides", and distributed to patients and health care providers via patient organisations, the TREAT-NMD network, and patient registries. The authors aimed to survey the extent to which these guidelines have been … [Read more]

Cet article European cross-sectional survey of current care practices for DMD est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


PayPal, partenaire depuis 10 ans
AFM- Téléthon
Le partenariat entre l'AFM-Téléthon et PayPal pour moderniser le don en ligne.
afm-telethon-paypal-partenaires

Myopathies liées à GNE : résultats de la phase II de l'acide sialique
Ressources associées
(PDF- octets)
Maladies
Amélioration de la force musculaire des membres supérieurs dans un essai de phase II de l'acide sialique à libération prolongée.

Ce 30e Téléthon lance la Génération des trouveurs!
Téléthon
Le Téléthon affiche pour sa 30è édition un compteur de 80 319 113 euros au terme des 30 heures d'émission.