• Die Fortschritte der Forschung sind die einzige Hoffnung der Patienten auf wirksame Therapien!

  • Unterstützen Sie die Forschung an seltenen genetischen Muskelkrankheiten!

Advanvces 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


ENMC Workshopsbericht

EURO-NMD, Pathology group. 7 december 2018

Auf deutsch verfügbar


Telethon 2018

7-8. Dezember, ganze Schweiz

Die Schweizerische Stiftung Telethon Aktion Schweiz  hilft Familien, die von seltenen Krankheiten betroffen sind! Unterstützen Sie uns!

Entdecken Sie alle Veranstaltungen in ihrer Region


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.
Email us to find out more

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 Dezember 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 November 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 November 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 September 2018