Results 61 to 70 of about 1,312 (124)

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

Local Non-Coding Regulatory Elements in Muscular Dystrophies. [PDF]

Int J Mol Sci
Wilton-Clark H, Rodriguez SH, Yokota T, Yokota T.   +3 more
europepmc   +1 more source

Molecular Insights and Orthopedic Management in Muscular Dystrophies: A Comprehensive Review. [PDF]

Int J Mol Sci
Lejman J, Pytlak M, Danielewicz A, Rutz E, Latalski M, Lejman M.   +5 more
europepmc   +1 more source

Association of Diaphragm Involvement Assessed by Ultrasound With Disease Severity in Facioscapulohumeral Muscular Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
Xu X, Zheng F, Lin X, Qiu L, Chen L, Xu J, Kang L, Chen J, Wu L, Zheng Y, Zeng M, Lin X, He Q, Chen L, Lin F, Wang N, Lin M, Lyu G, Wang Z.   +18 more
europepmc   +1 more source

SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. [PDF]

Eur J Hum Genet
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F.   +39 more
europepmc   +1 more source

Double trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I. [PDF]

Eur J Hum Genet
Puma A, Tammam G, Ezaru A, Slioui A, Torchia E, Tasca G, Villa L, Cavalli M, Salviati L, van der Vliet PJ, Lemmers RJ, Pini J, van der Maarel SM, Sacconi S.   +13 more
europepmc   +1 more source

Long-read sequencing for diagnosis of genetic myopathies. [PDF]

BMJ Neurol Open
Yeow D, Rudaks LI, Davis R, Ng K, Ghaoui R, Cheong PL, Ravenscroft G, Kennerson M, Deveson I, Kumar KR.   +9 more
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

Increased <i>METTL3</i> Expression and m6A Methylation in Myoblasts of Facioscapulohumeral Muscular Dystrophy. [PDF]

Int J Mol Sci
Settas N, Bittel AJ, Chen YW.
europepmc   +1 more source

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report. [PDF]

Front Genet
Tan M, Huo H, Feng J, Wang C, Jiang S.
europepmc   +1 more source