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

  • Sostenete la ricerca sulle malattie genetiche muscolari!

Job opportunity

One technician, one post-doctoral and one PhD positions are available at the Medical Faculty, University of Geneva, in the group of Prof. Perrine Castets that will be started in September 2019. The main interests of the group are to understand the molecular mechanisms underlying the loss of muscle function in systemic conditions and neuromuscular diseases.

More information

Riassunto workshop ENMC

Developing guidelines for management of reproductive options for families with maternally inherited mtDNA disease
22-24 March 2019
disponibile in inglese

Diagnosis and management of Juvenile Myasthenia Gravis
1-3 March 2019
disponibile in inglese

Towards a European Unifying lab for Kennedy's disease
15-17 February 2019
disponibile in inglese 



Gothenburg, 10-14 June 2019

Challenges in Myotonic Dystrophy – from basic science to therapy

Registration open

Dreiländer-Kongress Mitochondriale Medizin 2019

Zürich, 4.-5. Juli 2019

Hauptthemen des Kongresses sind die Fortschritte in der genetischen Diagnostik und in der Therapieentwicklung bei mitochondrialen Erkrankungen. Neu ist der Wissenschaftspreis 2019 des Deutschen Netzwerks für mitochondriale Erkrankungen (mitoNET) für für den besten Posterbeitrag oder freien Vortrag. 

Anmeldeschluss ist der 1. Mai 2019

Mehr Informationen
Download Einladung
Download Anmeldeformular


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


Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato...

16 aprile 2019

Polyneuron raises CHF 22.5 Million in series A to advance novel therapies for autoimmune diseases

"The proceeds will be used to perform a first-in-human trial with the company’s lead product, PN-1007, a potential treatment for anti-MAG neuropathy, a rare nervous system disease."

28 marzo 2019

mTOR controls embryonic and adult myogenesis via mTORC1.

Rion N, Castets P, Lin S, Enderle L, Reinhard JR, Eickhorst C, Rüegg MA.
Development. 2019 Mar 14.

18 marzo 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