Results 171 to 180 of about 7,021 (220)

Neuromuscular diseases: genomics-driven advances. [PDF]

Genomics Inform
Cho A.
europepmc   +1 more source

Deciphering Facioscapulohumeral Dystrophy in the clinical trials era: where are we now? [PDF]

Acta Myol
Torri F, Ciurli B, Rende M, Votta A, Mocciaro E, Karakashi F, Lencioni M, Ferraro E, Filosto M, Gabellini D, Siciliano G, Ricci G.   +11 more
europepmc   +1 more source

<i>Drosophila melanogaster</i>: A Model Organism in Muscular Dystrophy Studies. [PDF]

Int J Mol Sci
Zhao Y, Wang Y, Tulehalede A, Meng Z, Xu L, Bai H, Sha J, Xie W, Geng J.   +8 more
europepmc   +1 more source

The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey. [PDF]

Orphanet J Rare Dis
Mancuso M, Colitta A, Lavorato M, Van den Bergh P, Kirschner J, Kornblum C, Maggi L, Lamy F, Lochmüller H, Nordstrøm M, Malfatti E, Ferlini A, Pareyson D, Silani V, Kleopa KA, de Visser M, Atalaia A, Evangelista T.   +17 more
europepmc   +1 more source

The distribution of D4Z4 repeats in China and direct prenatal diagnosis of FSHD by optical genome mapping. [PDF]

Orphanet J Rare Dis
Li M, Hao N, Chang J, Yin K, Yang X, Wang Y, Dai Y, Jiang Y.   +7 more
europepmc   +1 more source

AI-Powered Neurogenetics: Supporting Patient's Evaluation with Chatbot. [PDF]

Genes (Basel)
Zampatti S, Farro J, Peconi C, Cascella R, Strafella C, Calvino G, Megalizzi D, Trastulli G, Caltagirone C, Giardina E.   +9 more
europepmc   +1 more source

Physiotherapeutic Interventions for Patients With Rare Genetic Muscle-Wasting Disorders: A Systematic Review and Meta-Analysis. [PDF]

Cureus
Alzahrani A.
europepmc   +1 more source

A narrative review of the economic burden of myelin oligodendrocyte glycoprotein antibody-associated disease and analogous conditions. [PDF]

Front Neurol
Lee L, Byrnes J, Hope C, Kim H.
europepmc   +1 more source

Proteomic Profiling Uncovers Sexual Dimorphism in the Muscle Response to Wheel Running Exercise in the FLExDUX4 Murine Model of Facioscapulohumeral Muscular Dystrophy. [PDF]

Mol Cell Proteomics
Nishimura Y, Bittel A, Jagan A, Chen YW, Burniston J.   +4 more
europepmc   +1 more source