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


A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

  In two siblings, who suffer from an early childhood-onset axonal polyneuropathy with exclusive involvement of motor fibers, the c.629T>C (p.F210S) mutation was identified in the X-linked AIFM1 gene, which encodes for the apoptosis-inducing factor (AIF). The mutation was predicted as deleterious, according to in silico analysis. A decreased expression of the AIF protein, altered … [Read more]

Cet article A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation est apparu en premier sur Institut de Myologie.


Toll-like receptor signalling and ectopic lymphoid development in Myasthenia Gravis

  The thymus of Myasthenia gravis (MG) patients is very often abnormal and possesses all the characteristics of tertiary lymphoid organs such as neoangiogenesis processes, overexpression of inflammatory cytokines and chemokines, and infiltration of B lymphocytes leading to ectopic germinal center (GC) development. In order to develop an experimental MG model associated with thymic GCs, … [Read more]

Cet article Toll-like receptor signalling and ectopic lymphoid development in Myasthenia Gravis est apparu en premier sur Institut de Myologie.


Humoral immune response to and safety of tetanus revaccination in myasthenia gravis

  This prospective, placebo controlled study investigated the humoral immune response to and safety of a tetanus revaccination in patients with myasthenia gravis or Lambert-Eaton myasthenic syndrome. Before and 4weeks after revaccination a blood sample and clinical outcome scores were obtained. Anti-tetanus IgG total, IgG1 and IgG4 titres were measured with an ELISA and disease-specific … [Read more]

Cet article Humoral immune response to and safety of tetanus revaccination in myasthenia gravis est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


A 14h30, Renan Luce sera aux côtés des bénévoles pour répondre au 3637 !
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Téléthon
Aujourd'hui, mardi 12 décembre, à 14h30, le chanteur Renan Luce sera en aux côtés des bénévoles du 3637 pour répondre aux appels des donateurs !

Telethon 2017 : 75 616 180 euros
Téléthon
« Ce sont les téléspectateurs qui ont la vie de mon enfant entre leurs mains. Ce sont eux qui peuvent le sauver »

Le compteur du Téléthon 2017 est de 75 616 180 euros.
Ressources associées
(PDF- octets)
Presse
Téléthon
« Ce sont les téléspectateurs qui ont la vie de mon enfant entre leurs mains. Ce sont eux qui peuvent le sauver »