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


Resistant myasthenia gravis and rituximab

  This retrospective study evaluated the efficiency and tolerance of rituximab in the management of resistant myasthenia gravis (MG). Twenty-eight patients who received rituximab for the treatment of MG between 2004 and 2015 at Pitié-Salpétrière University Hospital (Paris, France) were included. The efficacy of rituximab was evaluated every 6 months by the myasthenic muscle score … [Read more]

Cet article Resistant myasthenia gravis and rituximab est apparu en premier sur Institut de Myologie.


Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis

  This review presents recent findings of key biomolecular processes that underlie two motor neuron degenerative disorders, Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). It focusses on the role of four multifunctional proteins involved in RNA metabolism (TDP-43, FUS, SMN and Senataxin) that play a causal role in these diseases and the reported … [Read more]

Cet article Linking Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy through RNA-transcriptome homeostasis est apparu en premier sur Institut de Myologie.


Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome

  In this study, clinical electrophysiology studies, exome and Sanger sequencing were used to identify the molecular basis and elucidate the pathogenesis of a fatal congenital myasthenic syndrome. Clinical electrophysiology studies of the patient revealed several-fold potentiation of the evoked muscle action potential by high frequency nerve stimulation pointing to a presynaptic defect. Exome sequencing … [Read more]

Cet article Novel synaptobrevin-1 mutation causes fatal congenital myasthenic syndrome est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


Nouvel espoir pour la myopathie de Duchenne
Recherche
Des équipes des laboratoires de l'AFM-Téléthon, en collaboration avec l'université de Ferrara, ont utilisé CRISPR-Cas9 pour restaurer l'expression de la dystrophine dans la myopathie de Duchenne

Maladie de Pompe : une journée d'experts
Ressources associées
(PDF- octets)
Maladies
Actualités médicales, études cliniques en cours et pistes thérapeutiques en développement étaient au programme de la « 7è Journée Française Maladie de Pompe ».

SMA : premiers résultats de thérapie génique
Ressources associées
(PDF- octets)
Maladies
A l'issue de la fin de la phase I de son essai de thérapie génique, la société Avexis en a annoncé les premiers résultats dans un communiqué de presse du 16 mars 2017.