News

Metabolic dysregulation contributes to the development of dysferlinopathy.

Furrer R, Dilbaz S, Steurer SA, Santos G, Karrer-Cardel B, Ritz D, Sinnreich M, Handschin C. Life Sci Alliance. 2025 Feb 28;8(5):e202402991.

04 März 2025


Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.

Mistry AM, Saldanha G, Bersselaar LRVD, Knock GA, Goldberg MF, Vanegas MI, Fernandez-Garcia MA, Treves S, Voermans NC, Tribe RM, Jungbluth H. Neuromuscul Disord. 2025...

22 Februar 2025


5-aza-2-deoxycytidine improves skeletal muscle function in a mouse model for recessive RYR1-related congenital myopathy.

Ruiz A, Noreen F, Meier H, Buczak K, Zorzato F, Treves S. Hum Mol Genet. 2025 Feb 13:ddaf021. doi: 10.1093/hmg/ddaf021. Online ahead of print.

13 Februar 2025


Mitochondrial calcium uptake declines during aging and is directly activated by oleuropein to boost energy metabolism and skeletal muscle performance.

Gherardi G, Weiser A, Bermont F, Migliavacca E, Brinon B, Jacot GE, Hermant A, Sturlese M, Nogara L, Vascon F, De Mario A, Mattarei A, Garratt E, Burton M, Lillycrop K,...

07 Februar 2025


B cell depletion attenuates CD27 signaling of T helper cells in multiple sclerosis.

Ulutekin C, Galli E, Schreiner B, Khademi M, Callegari I, Piehl F, Sanderson N, Kirschenbaum D, Mundt S, Filippi M, Furlan R, Olsson T, Derfuss T, Ingelfinger F, Becher...

03 Februar 2025


Spinal cord gray matter atrophy is associated with disability in spinal muscular atrophy.

Kesenheimer EM, Wendebourg MJ, Weidensteiner C, Sander L, Weigel M, Haas T, Fischer D, Neuwirth C, Braun N, Weber M, Granziera C, Sinnreich M, Bieri O, Schlaeger R. J...

24 Januar 2025


275th ENMC international workshop: Seronegative myasthenia gravis: An update paradigm for diagnosis and management, 9-11 February 2024, Hoofddorp, the Netherlands.

Evoli A, Palace J, Spagni G, Cheli M, Ruiter A, Verschuuren J, Maggi L; 275th ENMC study group. Neuromuscul Disord. 2024 Nov;44:104468.

08 Dezember 2024


Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing.

Foged MM, Recazens E, Chollet S, Lisci M, Allen GE, Zinshteyn B, Boutguetait D, Münch C, Mootha VK, Jourdain AA. Proc Natl Acad Sci U S A. 2024 Nov...

14 November 2024


GLUD1 determines murine muscle stem cell fate by controlling mitochondrial glutamate levels.

Soro-Arnáiz I, Fitzgerald G, Cherkaoui S, Zhang J, Gilardoni P, Ghosh A, Bar-Nur O, Masschelein E, Maechler P, Zamboni N, Poms M, Cremonesi A, Garcia-Cañaveras JC, De...

04 November 2024


Mitochondrial Maintenance in Skeletal Muscle.

de Smalen LM, Handschin C. Cold Spring Harb Perspect Biol. 2024 Oct 21:a041514. doi: 10.1101/cshperspect.a041514. Online ahead of print.

01 November 2024