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 Apr 17;34(9):790-805.
28 aprile 2025
Recent advances in the clinical spectrum and pathomechanisms associated with X-linked myopathy with excessive autophagy and other VMA21-related disorders.
Cocchiararo I, Castets P.
J Neuromuscul Dis. 2025 Mar 4:22143602251314767.
04 marzo 2025
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.
28 febbraio 2025
281st ENMC international workshop: 2nd ENMC workshop on exercise training in muscle diseases; towards consensus-based recommendations on exercise prescription and outcome measures. Hoofddorp, The Netherlands, 4-6 October 2024.
Voorn EL, Lucia A, Vissing J; 281st ENMC workshop study group.
Neuromuscul Disord. 2025 Feb 18;49:105318. doi: 10.1016/j.nmd.2025.105318.
18 febbraio 2025
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein…
20 novembre 2024
