Results 171 to 180 of about 56,560 (289)

The history of research on facioscapulohumeral muscular dystrophy

open access: yesChinese 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  

Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy [PDF]

open access: gold, 2021
Darina Šikrová   +5 more
openalex   +1 more source

P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy

open access: yesGenetics in Medicine Open, 2023
Hagit Shani   +4 more
doaj   +1 more source

Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis [PDF]

open access: bronze, 2012
Takako I. Jones   +11 more
openalex   +1 more source

Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy

open access: green, 2020
Justin Cohen   +3 more
openalex   +2 more sources

Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers

open access: green, 2009
Patrícia Arashiro   +9 more
openalex   +2 more sources

Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1

open access: green, 2015
Hyung Jun Park   +8 more
openalex   +2 more sources

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