Results 191 to 200 of about 4,375 (200)

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
Masashi Aoki, Naoki Suzuki, Tetsuya Niihori   +2 more
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

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
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

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

Human Mutation, 2012
Gaelle Blandin, Christophe Beroud, Karine Nguyen   +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

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
Young-Chul Choi
exaly  

ФАЗОВЫЕ РАВНОВЕСИЯ В СИСТЕМЕ SrF2 – DySF

2022
openaire   +1 more source

OTsENKA REGENERATsII SKELETNOY MYShEChNOY TKANI U MYShEY LINII BLA/J POSLE TRANSDUKTsII REKOMBINANTNYM ADENOVIRUSOM AD5-DYSF

Genes & Cells, 2017
O. N Chernova, M. O Mavlikeev, I. A Yakovlev, V. V Solov'eva, I. G Starostina, A. A Titova, A. K Zeynalova, M. S Kaligin, A. A Rizvanov, A. P Kiyasov, R. V Deev   +10 more
openaire   +1 more source

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