Results 131 to 140 of about 4,991 (181)

Assessing the multidimensional burden of facioscapulohumeral muscular dystrophy through patient-reported outcomes and experience. [PDF]

J Patient Rep Outcomes
Ji W, Zhao Y, Kang Y, He Z, Xu L, Shukar S, Aikepaier A, Chen X, He Q, Zeng M, Lin Y, Lin M, Maimaiti H, Liu T, Li L, Wang Z, Fang Y.   +16 more
europepmc   +1 more source

Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases. [PDF]

Front Cell Dev Biol
Wein N, Barthélémy F.
europepmc   +1 more source

Identification of KHDC1L, a DUX4-regulated protein, as a novel plasma biomarker in facioscapulohumeral muscular dystrophy. [PDF]

Hum Mol Genet
Sutliff NA, Chao E, Bennett SR, Nip Y, Lakhdari O, Canton DA, Zhu Y, Tapscott SJ.   +7 more
europepmc   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Diagnosis, Pathogenesis and Treatment of Muscular Dystrophy. [PDF]

Biomedicines
Bozzi M.
europepmc   +1 more source

RNA therapies are delivering as therapies for neuromuscular dystrophy patients: Editorial for the special issue on RNA therapies in Journal of Neuromuscular Diseases. [PDF]

J Neuromuscul Dis
Aartsma-Rus A, Takeda S.
europepmc   +1 more source

Video-Based Biomechanical Analysis Captures Disease-Specific Movement Signatures of Different Neuromuscular Diseases. [PDF]

NEJM AI
Ruth PS, Uhlrich SD, de Monts C, Falisse A, Muccini J, Covitz S, Vogt-Domke S, Day J, Duong T, Delp SL.   +9 more
europepmc   +1 more source

Measuring health-related quality of life in facioscapulohumeral muscular dystrophy: a COSMIN systematic review and conceptual framework. [PDF]

Health Qual Life Outcomes
Carlton J, Powell P, Street J, Frances S, Williams C, Sutton A, Hewamadduma C.   +6 more
europepmc   +1 more source

Development of a DUX4-targeting antibody oligonucleotide conjugate as a therapy for FSHD. [PDF]

Nucleic Acids Res
Malecova B, Sala D, Melikian GM, Johns R, Erdogan G, Hartmann M, Jordan M, Arias JD, Bhattacharya A, Meng Q, Dansereau O, Beppler SW, Doppalapudi VR, Huang H, Flanagan WM, Levin AA.   +15 more
europepmc   +1 more source