Results 151 to 160 of about 2,221 (162)

Molecular landscape ofDYSFmutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective

Human Mutation, 2021
Huahua Zhong, Pengfei Lin, Xueying Zheng   +2 more
exaly  

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Human Mutation, 2012
Gaëlle Blandin, Christophe Beroud, Véronique Labelle   +2 more
exaly  

Recurrent Rhabdomyolysis in a Heterozygous DYSF Variant Carrier

Journal of the American Society of Nephrology
Mercedes Malone, Charles W. Heilig
openaire   +1 more source

Compound heterozygous DYSF variants causing limb‐girdle muscular dystrophy type 2B in a Chinese family

Journal of Gene Medicine, 2020
Liangshan Li, Wenmiao Liu, Yinglei Xu
exaly  

Protein Misfolding in Dysferlinopathy: The Novel Animal Model Dysf-MMex38 (P2.008)

Neurology, 2015
Leonie Victoria Heidt, Michael Bader, Simone Spuler, Verena Schöwel   +3 more
openaire   +1 more source

Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy

Neuromuscular Disorders, 2012
Hyang-Sook Kim, Tai-Seung Nam, Young-Chul Choi   +2 more
exaly  

P2.55 Mstn/Dysf double knockout mice gain muscle mass but no strength

Neuromuscular Disorders, 2011
V. Schoewel, S. Adams, C. Herrmann, U. Zacharias, M. Boschmann, I. Richard, S. Spuler   +6 more
openaire   +1 more source

Dysphagia after anterior cervical discectomy

Neurologie Pro Praxi, 2017
René Opšenák, Branislav Kolarovszki, Pavol Snopko   +2 more
exaly  

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B

Journal of the Neurological Sciences, 2018
Mariko Okubo, Aritoshi Iida, Shinichiro Hayashi   +2 more
exaly  

A novel biallelic mutation in the DYSF gene as a cause of Miyoshi myopathy

Neurological Sciences
Qian Sun, Qiong-Qiong Li, Hai-Yan Lyu, Chun-Ni Guo, Lin-Yuan Zhang   +4 more
openaire   +1 more source