Actualités

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 mars 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 février 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 février 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 février 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 février 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 janvier 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 décembre 2024

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Actualités

Metabolic dysregulation contributes to the development of dysferlinopathy.

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

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

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

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

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

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

Cytosolic N6AMT1-dependent translation supports mitochondrial RNA processing.

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

Mitochondrial Maintenance in Skeletal Muscle.

La Fondation

FSRMM