• 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!

Advances in skeletal muscle biology in health and disease

Gainesville, 6-8 march 2019

This conference is well suited for informal interactions and the presentation of data that might be too preliminary for a larger audience. Overall, the goal is to facilitate advances in skeletal muscle biology through discussions that promote new ideas, research lines, and collaborations.

Abstract submission: 10 January 2019


Rapport d'atelier ENMC

EURO-NMD, Pathology group. 7 december 2018

disponible en anglais


Téléthon 2018

7-8 décembre, toute la Suisse

La Fondation Téléthon Action Suisse aide les familles touchées par les maladies rares en Suisse! Soutenez-nous vous aussi!

Découvrez les événements dans votre région


Job opportunity

Positions will be available for MSc and PhD studentships, postdoctoral fellows and research associates (lab-based and clinical) at The Ottawa Hospital and University of Ottawa Faculty of Medicine, Canada – please contact us if you are interested in joining the team.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C,...

02 décembre 2018

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

Gayi E, Neff LA, Massana Muñoz X, Ismail HM, Sierra M, Mercier T, Décosterd LA, Laporte J, Cowling BS, Dorchies OM, Scapozza L.

Nat Commun. 2018 Nov 19;9(1):4848.

19 novembre 2018

ORAI1 channel gating and selectivity is differentially altered by natural mutations in the first or third transmembrane domain.

Bulla M, Gyimesi G, Kim JH, Bhardwaj R, Hediger MA, Frieden M, Demaurex N.
J Physiol. 2018 Nov 1 [Epub ahead of print]

01 novembre 2018

Distinct patterns of skeletal muscle mitochondria fusion, fission and mitophagy upon duration of exercise training.

Arribat Y, Broskey NT, Greggio C, Boutant M, Conde Alonso S, Kulkarni SS, Lagarrigue S, Carnero EA, Besson C, Cantó C, Amati F.
Acta Physiol (Oxf). 2018 Aug 24:e13179.

02 septembre 2018