Results 121 to 130 of about 7,807 (220)

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. [PDF]

open access: bronze, 1997
Meena Upadhyaya   +6 more
openalex   +1 more source

A pilot study of a single intermittent arm cycling exercise programme on people affected by Facioscapulohumeral dystrophy (FSHD)

open access: gold, 2022
Fraser Philp   +5 more
openalex   +1 more source

Generation of two induced pluripotent stem cell lines from patients with Facioscapulohumeral muscular dystrophy

open access: yesStem Cell Research
Facioscapulohumeral muscular dystrophy (FSHD) is a genetically complex condition marked by progressive skeletal muscle weakness, primarily affecting the face, shoulders, and upper arms.
Ravichandra Venkateshappa   +5 more
doaj   +1 more source

Quantitative Three-dimensional Scanning of Facial Movements in Facioscapulohumeral Dystrophy

open access: yesNeurological Sciences and Neurophysiology
Background: Facioscapulohumeral dystrophy (FSHD) is the third prevalent neuromuscular disorder, particularly with facial and upper limb involvement. Due to its characteristics, quantitative assessment of facial function is challenging but essential for ...
Ceren Hangul   +6 more
doaj   +1 more source

The FSHD jigsaw: are we placing the tiles in the right position?

open access: hybrid, 2023
Valentina Salsi   +2 more
openalex   +1 more source

MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy [PDF]

open access: gold, 2023
Valeria Runfola   +5 more
openalex   +1 more source

Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD [PDF]

open access: gold, 2022
Xiangduo Kong   +13 more
openalex   +1 more source

Fibroblast cell line with inducible cassette exchange system- tool to study gain and loss of gene function [PDF]

open access: yes, 2012
We generated fibroblast cell line with single copy of targeting Cre/Lox cassette exchange. The cassette is targeted with circular plasmid P2lox/cre caring the gene of interest.
Bosnakovski, Darko
core  

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