Results 121 to 130 of about 4,506 (155)

RNA Mis-Splicing Effects of Noncanonical Splicing Variants in Limb-Girdle Muscular Dystrophy Type R1/2A. [PDF]

Neurol Genet
Wang G, Liu H, Yang G, Gu S, Yan C, Lin P.   +5 more
europepmc   +1 more source

Emerging roles of microRNAs and other non-coding transcriptome in muscular dystrophies. [PDF]

Inflamm Regen
Abdelrehim FG, Sadek Z, Fahim SA, El-Ekiaby N, Abdelaziz AI, Fawzy IO.   +5 more
europepmc   +1 more source

Teenage exercise is associated with earlier symptom onset in dysferlinopathy: A retrospective cohort study [PDF]

, 2018
et al,, Harms, Matthew, Moore, Ursula R, Pestronk, Alan   +3 more
core   +1 more source

In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most common. [PDF]

Mol Genet Genomic Med
Karthikeyan P, Kumar SH, Khanna-Gupta A, Bremadesam Raman L.   +3 more
europepmc   +1 more source

The <i>TRIM32</i> geno-phenotype spectrum: a literature review and 25-year clinical follow-up of two brothers living with sarcotubular myopathy. [PDF]

Acta Myol
Caputo M, Schoser B.
europepmc   +1 more source

Real-world walking speed as a digital biomarker and outcome measure for clinical trials-a systematic review, regulatory status and future directions. [PDF]

Front Digit Health
Poleur M, Tychon C, Gilbert S, Daumer M, Servais L.   +4 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Reconsidering a silent variant: SGCA's role in atypical cardiomyopathy. [PDF]

Eur J Hum Genet
Horowitz-Cederboim S, Hoffman-Lipschuetz R, Durst R, Shpitzen S, Shauer A, Zwas DR, Rosenbluh C, Antman I, Eilat A, Harel T, Tomer O, Meiner V.   +11 more
europepmc   +1 more source

Malformations of Core M3 on α-Dystroglycan Are the Leading Cause of Dystroglycanopathies. [PDF]

J Mol Neurosci
Sharaf-Eldin W.
europepmc   +1 more source

Adult late-onset limb-girdle muscular dystrophy R1/2A complicated by parathyroid adenoma and sick sinus syndrome: a case report and literature review. [PDF]

BMC Musculoskelet Disord
Hong X, Jiang F, Wang L.
europepmc   +1 more source