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

  • Sostenete la ricerca sulle malattie genetiche muscolari!

ENMC workshops

The call for workshop applications is open.
NEW Deadline: 1 March 2019

How to submit a workshop application


Riassunto workshop ENMC

Clinicopathological Classification of Dermatomyositis 
14-16 December 2018
disponibile in inglese

The involvement of skeletal muscle stem cells in the pathology of Muscular Dystrophies.
25-27 janvier 2019
disponibile in inglese



Gothenburg, 10-14 June 2019

Challenges in Myotonic Dystrophy – from basic science to therapy

Early bird registration until April 1st

New funding opportunities for myotonic dystrophy research

For details please follow this link

Pre-applications: March 14-28
Full applications: April-July


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


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. In recent years, many new insights have 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


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. 2019 Feb 7;73(3):490-504

07 febbraio 2019

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.

Lochmüller H, Ambrosini A, van Engelen B, Hansson M, Tibben A, Breukel A, Sterrenburg E, Schrijvers G, Meijer I, Padberg G, Peay H, Monaco L, Snape M, Lennox A, Mazzone E, Bere N, de Lemus M,...

04 febbraio 2019

Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.

Elbaz M, Ruiz A, Eckhardt J, Pelczar P, Muntoni F, Boncompagni S, Treves S, Zorzato F.
Hum Mol Genet. 20, Jan 25. [Epub ahead of print]

31 gennaio 2019

The RNA-Binding Protein PUM2 Impairs Mitochondrial Dynamics and Mitophagy During Aging.

D'Amico D, Mottis A, Potenza F, Sorrentino V, Li H, Romani M, Lemos V, Schoonjans K, Zamboni N, Knott G, Schneider BL, Auwerx J.
Mol Cell. 2019 Jan 11. pii: S1097-2765(18)31004-9.

22 gennaio 2019