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


  • Unterstützen Sie die Forschung an seltenen genetischen Muskelkrankheiten!


FSHD Symposium 2023

Luzerner Kantonsspital  31 May 2023 (in german and english)

Das Symposium richtet sich an Assistenzärztinnen und Assistenzärzte, Fachärztinnen und Fachärzte der Neurologie, Rheumatologie, Orthopädie, Pädiatrie, Neurogenetik sowie Fachpersonen der Physiotherapie.

Info and registration


9th Rare Disease Summer school

Kartause Ittingen, 4-7 July 2023

The program includes lectures by national and international rare disease experts on topics ranging from disease mechanisms and disease models to improving diagnoses and developing novel therapies. Moreover, the ethical, social, and legal (ELSI) challenges associated with rare diseases will also be addressed.

Deadline for applications: 14th May 2023


Annual SMA Research & Clinical Care Meeting

Orlando, Florida 28-30 June 2023

This meeting brings together researchers from academia, government, and biotech/pharmaceutical companies with multi-disciplinary healthcare providers who are diagnosing and caring for people with SMA



FSHD International Research Congress

15-16 June 2023, Milan, Italy

With the recent advances in FSHD research and clinical advances, this conference has become catalytic in translating ideas into potential therapies.


Grant opportunity

For research focused on improving treatment, care, and support of the myotonic dystrophy patient and his/her family, as well as molecular biology and basic science.

Call now open, deadline September 15th


Mentoring Programme

Do you see yourself as a future leader in NMD research? The just launched ENMC mid-career mentoring programme aims at helping the next generation of specialists and research leaders to develop their full potential and facilitate effective communication and collaboration with multiple stakeholders in the current NMD landscape.
Deadline for the first application round: 1 July 2023.

Read more


New papers


ConFERMing the role of talin in integrin activation and mechanosignaling.

Bachmann M, Su B, Rahikainen R, Hytönen VP, Wu J, Wehrle-Haller B. J Cell Sci. 2023 Apr 15;136(8):jcs260576.

15 April 2023

Nerve pathology is prevented by linker proteins in mouse models for LAMA2-related muscular dystrophy.

Reinhard JR, Porrello E, Lin S, Pelczar P, Previtali SC, Rüegg MA. PNAS Nexus. 2023 Mar 15;2(4):pgad083.

01 April 2023

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C, Lone MA, Lee W, Capolupo L, et. al.
J Clin Invest. 2023 Mar 28:e165019.

28 März 2023

Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies.

Eckhardt J, Ruiz A, Koenig S, Frieden M, Meier H, Schmidt A, Treves S, Zorzato F.
Elife. 2023 Mar 2;12:e83618.

02 März 2023

Radiomics and machine learning applied to STIR sequence for prediction of quantitative parameters in facioscapulohumeral disease.

Colelli G, Barzaghi L, Paoletti M, Monforte M, Bergsland N, Manco G, Deligianni X, Santini F, Ricci E, Tasca G, Mira A, Figini S, Pichiecchio A.
Front Neurol. 2023 Feb 24;14:1105276.

24 Februar 2023

Antibodies Produced by CLL Phenotype B Cells in Patients With Myasthenia Gravis Are Not Directed Against Neuromuscular Endplates.

Ingelfinger F, Kramer M, Lutz M, Widmer CC, Piccoli L, Kreutmair S, Wertheimer T, Woodhall M, Waters P, Sallusto F, Lanzavecchia A, Mundt S, Becher B, Schreiner B.
Neurol Neuroimmunol Neuroinflamm....

08 Februar 2023

New tools to study the interaction between integrins and latent TGFβ1.

Bachmann M, Kessler J, Burri E, Wehrle-Haller B.
bioRxiv. 2023 Jan 26:2023.01.26.525682

26 Januar 2023

The molecular athlete: exercise physiology from mechanisms to medals.

Furrer R, Hawley JA, Handschin C.
Physiol Rev. 2023 Jan 5.

05 Januar 2023

Resistance exercise enhances long-term mTORC1 sensitivity to leucine.

D'Hulst G, Masschelein E, De Bock K.
Mol Metab. 2022 Dec;66:101615

22 Dezember 2022