Results 151 to 160 of about 2,287 (160)

Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review

Genes, 2023
Joonhong Park, Young Jae Moon, Park Joonhong   +2 more
exaly  

Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis

Archives of Gynecology and Obstetrics, 2021
Guo-Dong Gao, Yang Zou, Gao Guo-Dong
exaly  

In Vivo DYSF Gene Viral Delivery Provides a Histoprotective Effect in Skeletal Muscle Tissue in Dysferlin-Deficient Mice

Bulletin of Experimental Biology and Medicine, 2023
R V Deev, Ivan A Yakovlev, Rizvanov A A
exaly  

The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain

Human Mutation, 2020
Naoki Suzuki, Tetsuya Niihori, Hiroya Ono   +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  

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  

[Analysis of DYSF gene mutations in two pedigrees affected with limb-girdle muscular dystrophy type 2B].

, 2018
Zhenjun Liu, Hong Liao, Xuemei Zhang, Haixia Zhang, Hongqian Liu, He Wang, Shanling Liu   +6 more
openalex   +1 more source

Analysis of theDYSFmutational spectrum in a large cohort of patients

Human Mutation, 2009
Martin Krahn, Christophe Beroud, Véronique Labelle   +2 more
exaly  

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  

In Vitro Correction of Point Mutations in the DYSF Gene Using Prime Editing

International Journal of Molecular Sciences
Camille Bouchard, Joel Rousseau, Gabriel Lamothe   +2 more
exaly