News
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Noda Y, Miyoshi H, Benucci S, Gonzalez A, Bandschapp O, Girard T, Treves S, Zorzato F. Neuromuscul Disord. 2023 Dec;33(12):951-963
14 dicembre 2023
Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.
Dohrn MF, Beijer D, Lone MA, Bayraktar E, Oflazer P, Orbach R, Donkervoort S, Foley AR, Rose A, Lyons M, Louie RJ, Gable K, Dunn T, Chen S, Danzi MC, Synofzik M,...
01 dicembre 2023
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.
Syeda SB, Lone MA, Mohassel P, Donkervoort S, Munot P, França MC Jr, Galarza-Brito JE, Eckenweiler M, Asamoah A, Gable K, Majumdar A, Schumann A, Gupta SD, Lakhotia A,...
01 dicembre 2023
Emerging Perspectives on Gene Therapy Delivery for Neurodegenerative and Neuromuscular Disorders.
Gomez Limia C, Baird M, Schwartz M, Saxena S, Meyer K, Wein N. J Pers Med. 2022 Nov 30;12(12):1979.
16 novembre 2023
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Vidal J, Fernandez EA, Wohlwend M, Laurila PP, Lopez-Mejia A, Ochala J, Lobrinus AJ, Kayser B, Lopez-Mejia IC, Place N, Zanou N. J Cachexia Sarcopenia Muscle. 2023 Nov...
15 novembre 2023
RNA recognition by Npl3p reveals U2 snRNA-binding compatible with a chaperone role during splicing.
Moursy A, Cléry A, Gerhardy S, Betz KM, Rao S, Mazur J, Campagne S, Beusch I, Duszczyk MM, Robinson MD, Panse VG, Allain FH. Nat Commun. 2023 Nov 7;14(1):7166.
07 novembre 2023
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I,...
25 ottobre 2023
Molecular control of endurance training adaptation in male mouse skeletal muscle.
Furrer R, Heim B, Schmid S, Dilbaz S, Adak V, Nordström KJV, Ritz D, Steurer SA, Walter J, Handschin C. Nat Metab. 2023 Sep 11.
23 ottobre 2023
In vitro-generated human muscle reserve cells are heterogeneous for Pax7 with distinct molecular states and metabolic profiles.
Bouche A, Borner B, Richard C, Grand Y, Hannouche D, Laumonier T. Stem Cell Res Ther. 2023 Sep 8;14(1):243
16 ottobre 2023
Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis.
Cocchiararo I, Cattaneo O, Rajendran J, Chabry F, Cornut M, Soldati H, Bigot A, Mamchaoui K, Gibertini S, Bouche A, Ham DJ, Laumonier T, Prola A, Castets P. Hum Mol...
11 ottobre 2023
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