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

  • Unterstützen Sie die Forschung an seltenen genetischen Muskelkrankheiten!

Job opportunity

Post-doctoral researcher in muscle gene expression. San Raffaele Hospital, Milano

A post-doctoral position is IMMEDIATELY available in my group to characterise the role of gene expression in normal muscle physiology and in muscular dystrophy. This project will integrate genome-wide data (ChIP-seq and RNA-seq) with biochemistry and cell biology approaches.  
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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


ENMC Workshopsbericht

EURO-NMD, Pathology group. 7 december 2018

Auf deutsch verfügbar


GRC EC Coupling

18-19 Mai, Lucca, Italy

This meeting focuses on mechanistic insights into the process of excitation-contraction coupling (ECC) in muscle tissue, the phenomenon through which electrical signals at the plasma membrane are converted into a chemical signal. In recent years, many new insights have been obtained at both the structural, biochemical, and physiological level, including the identification of important new players in the process. This has led to putative therapeutic strategies to interfere with ECC components in disease. 

Registration until 21 April 2019
See also GRC Seminar, abstracts for oral presentations until 18 February 2019


ENMC workshops

The call for workshop applications is open.
Deadline: 15 March 2019

How to submit a workshop application


STIM1 over-activation generates a multi-systemic phenotype affecting skeletal muscle, spleen, eye, skin, bones, and the immune system in mice.

Silva-Rojas R, Treves S, Jacobs H, Kessler P, Messaddeq N, Laporte J, Böhm J.
Hum Mol Genet. 2018 Dec 21.

21 Dezember 2018

The Solution Structure of FUS Bound to RNA Reveals a Bipartite Mode of RNA Recognition with Both Sequence and Shape Specificity.

Loughlin FE, Lukavsky PJ, Kazeeva T, Reber S, Hock EM, Colombo M, Von Schroetter C, Pauli P, Cléry A, Mühlemann O, Polymenidou M, Ruepp MD, Allain FH.
Mol Cell. 2018 Dec 11. pii:...

11 Dezember 2018

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