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


Effect of flavonoid and omega 3 supplementation in DMD, FSHD and LGMD

Nutritional compounds can exert both anti-inflammatory and anti-oxidant effects. Since these events exacerbate the pathophysiology of muscular dystrophies, the authors investigated nutraceutical supplementation as an adjuvant therapy in dystrophic patients, to low costs and easy route of administration. Moreover, this treatment could represent an alternative therapeutic strategy for dystrophic patients who do not respond to … [Read more]

Cet article Effect of flavonoid and omega 3 supplementation in DMD, FSHD and LGMD est apparu en premier sur Institut de Myologie.


VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes

Very rare polymorphisms in the human VRK1 (vaccinia-related kinase 1) gene have been identified in complex neuromotor phenotypes associated to spinal muscular atrophy (SMA), pontocerebellar hypoplasia (PCH), microcephaly, amyotrophic lateral sclerosis (ALS) and distal motor neuron dysfunctions. The mechanisms by which these VRK1 variant proteins contribute to the pathogenesis of these neurological syndromes are unknown. … [Read more]

Cet article VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes est apparu en premier sur Institut de Myologie.


The NIH Toolbox for cognitive surveillance in DMD

The authors performed a prospective, cross-sectional cognitive assessment in subjects with Duchenne Muscular Dystrophy (DMD) and their biological mothers. Thirty subjects with out-of-frame mutations in the dystrophin (DMD) gene, and 25 biological mothers were evaluated using the National Institutes of Health Toolbox Cognition Battery (NIHTB-CB). A parent completed the Behavior Rating Inventory of Executive Functioning … [Read more]

Cet article The NIH Toolbox for cognitive surveillance in DMD est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


L'engagement de la FFF pour AFM-Téléthon renouvelé pour 2 années
Signature convention AFM et FFF
C'est un partenariat privilégié et une belle histoire de valeurs partagées entre la Fédération Française de Football et l'AFM-Téléthon. Un engagement renouvelé pour 2 ans jeudi dernier !
Partenariat et mécénat
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SMA : résultats préliminaires positifs pour la partie 2 de l'essai SUNFISH
Des résultats préliminaires de l'essai SUNFISH montrent que le risdiplam améliore la fonction motrice dans l'amyotrophie spinale proximale liée à SMN1 (SMA) de type 2 et 3.
Maladies
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Rencontre grand-public avec Laurence Tiennot-Herment, Présidente de l'AFM-Téléthon et de Généthon
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