• Les progrès de la recherche sont l'unique espoir pour les patients de trouver des thérapies efficaces!

  • Soutenez la recherche dans le domaine des maladies génétiques rares!

Rapport d'atelier ENMC

Clinical trial readiness for Calpainopathies. 17-19 September 2017

Disponible en français

Recommendations for treatment of Mitochondrial DNA maintenance disorders. 16-18 June 2017

Disponible en français



Images et communiqué de presse de la cérémonie de remise des bourses en mai 2017 à Bâle 

Images et clip vidéo du séminaire de la FSRMM à Macolin en novembre 2016 (en allemand).


TREAT-NMD International Conference

27-29 November 2017, Freiburg (Germany)

The aim of this international conference is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.



Re(Act) Congress

7-10 March 2018, Bologna, Italy

The congress aims to bring together world leaders and young scientist from a variety of breaking through scientific field to present cutting edge research, to discuss results and to exchange ideas. Moreover, many patients and patient organization, which are committed in research, will be present to share their experience.

Abstract submission until 15 December 


An unbiased silencing screen in muscle cells identifies miR-320a, miR-150, miR-196b, and miR-34c as regulators of skeletal muscle mitochondrial metabolism.

Dahlmans D, Houzelle A, Andreux P, Jörgensen JA, Wang X, de Windt LJ, Schrauwen P, Auwerx J, Hoeks J.
Mol Metab. 2017 Nov;6(11):1429-1442.

14 novembre 2017

Split GFP technologies to structurally characterize and quantify functional biomolecular interactions of FTD-related proteins.

Foglieni C, Papin S, Salvadè A, Afroz T, Pinton S, Pedrioli G, Ulrich G, Polymenidou M, Paganetti P.
Sci Rep. 2017 Oct 25;7(1):14013.

07 novembre 2017

PGC-1α affects aging-related changes in muscle and motor function by modulating specific exercise-mediated changes in old mice.

Gill JF, Santos G, Schnyder S, Handschin C.
Aging Cell. 2017 Oct 25.

25 octobre 2017

Tandem hnRNP A1 RNA recognition motifs act in concert to repress the splicing of survival motor neuron exon 7.

Beusch I, Barraud P, Moursy A, Cléry A, Allain FH.
Elife. 2017 Jun 26;6.

20 octobre 2017