Results 151 to 160 of about 55,263 (257)

The history of research on facioscapulohumeral muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary neuromuscular disease which is divided into FSHD1 and FSHD2. After years of research, FSHD has established complete molecular diagnostic methods, in which Southern blotting is commonly ...
Cheng ZHANG, Huan LI
doaj  

P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

Genetics in Medicine Open, 2023
Hagit Shani, Baruch Feldman, Noa Harel Inbar, Haike Reznik-Wolf, Elon Pras   +4 more
doaj   +1 more source

Interplay between balance, gait kinematic and physical activity level in facioscapulohumeral muscular dystrophy. [PDF]

Sci Rep
Crisafulli O, Sozzi S, Quintiero V, Negro M, Tupler R, Ramat S, Stella GM, Schmid M, D'Antona G.   +8 more
europepmc   +1 more source

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

Biomedicines
Bozzi M.
europepmc   +1 more source

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for “double trouble” overlapping syndromes [PDF]

, 2013

core   +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

The changed transcriptome of muscular dystrophy and inflammatory myopathy : contributions of non-coding RNAs to muscle damage and recovery [PDF]

, 2019
De Paepe, Boel
core   +1 more source

Financial Toxicity and Its Determinants in Individuals Living With Inherited and Acquired Neuromuscular Disorders: The BIND Study. [PDF]

Neurology
Grant A, Smith IC, Lessard LER, Osman H, Lochmuller H, McMillan HJ, Pfeffer G, Korngut L, Gagnon C, Lintern S, Selby KA, Thavorn K, Warman-Chardon J.   +12 more
europepmc   +1 more source

Sleep Disordered Breathing and Its Predictors in Pediatric Muscular Dystrophies. [PDF]

J Clin Med
Abu Zahra M, Arens R, Essibayi MA, Patel N.   +3 more
europepmc   +1 more source

Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial [PDF]

, 2016

core   +1 more source