• Les progrès de la recherche sont l'unique espoir pour les patients de trouver des thérapies efficaces!

  • Soutenez la recherche dans le domaine des maladies génétiques rares!

World Muscle Society Congress 2017

St. Malo, France, 4-7 October 2017

You will have the opportunity to learn about the latest developments in world-wide myology during this 4-day meeting attended by established and young physicians, researchers, therapists and neuropathologists from all over the world.

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Rapport d'atelier ENMC

International standard for CIDP registry and biobank. 12-14 May 2017

Disponible en français

Recommendations for treatment of Mitochondrial DNA maintenance disorders. 16-18 June 2017

Disponible en français

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FSRMM Média

Images et communiqué de presse de la cérémonie de remise des bourses en mai 2017 à Bâle 

Images et clip vidéo du séminaire de la FSRMM à Macolin en novembre 2016 (en allemand).

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TREAT-NMD International Conference

27-29 November 2017, Freiburg (Germany)

The aim of this international conference is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.

website

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New job opportunity

PhD Studentship on Phenotype variability in congenital myopathies
King's College, London

Caloric restriction induces energy-sparing alterations in skeletal muscle contraction, fiber composition and local thyroid hormone metabolism that persist during catch-up fat upon refeeding.

De Andrade PB, Neff LA, Strosova MK, Arsenijevic D, Patthey-Vuadens O, Scapozza L, Montani JP, Ruegg UT, Dulloo AG, Dorchies OM.
Front Physiol. 2015 Sep 16;6:254

15 septembre 2017

Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.

Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.
J Biol Chem. 2017 Jul 28;292(30):12542.

28 juillet 2017

Modular dispensability of dysferlin C2 domains reveals rational design for mini-dysferlin molecules.

Azakir BA, Di Fulvio S, Salomon S, Brockhoff M, Therrien C, Sinnreich M.
J Biol Chem. 2017 Jul 28;292(30):12543.

28 juillet 2017