• I progressi della ricerca sono l'unica speranza dei pazienti!

  • Sostenete la ricerca sulle malattie genetiche muscolari!

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


Riassunto workshop ENMC

EURO-NMD, Pathology group. 7 december 2018

disponibile in inglese


Telethon 2018

7-8 dicembre, tutta la Svizzera

La Fondazione Telethon Azione Svizzera aiuta le persone nel nostro paese affette da malattie genetiche rare! Scopri cosa facciamo e come puoi aiutarci!

Trova tutte le manifestazioni della tua regione


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 dicembre 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 settembre 2018