Facioscapulohumeral muscular dystrophy (FSHD) is characterised by progressive skeletal muscle weakness and wasting. FSHD is linked to epigenetic derepression of the …
P Heher, M Ganassi, A Weidinger, EN Engquist… - Redox biology, 2022 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is characterised by descending skeletal muscle weakness and wasting. FSHD is caused by mis-expression of the transcription factor …
T Schätzl, L Kaiser, HP Deigner - Orphanet Journal of Rare Diseases, 2021 - Springer
Whilst a disease-modifying treatment for Facioscapulohumeral muscular dystrophy (FSHD) does not exist currently, recent advances in complex molecular pathophysiology studies of …
H Erdmann, F Scharf, S Gehling, A Benet-Pagès… - Brain, 2023 - academic.oup.com
Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being …
RJ Butterfield, DM Dunn, B Duval, S Moldt… - Genome …, 2023 - genome.cshlp.org
Fascioscapulohumeral muscular dystrophy (FSHD) is caused by a unique genetic mechanism that relies on contraction and hypomethylation of the D4Z4 macrosatellite array …
A Greco, R Goossens, B Van Engelen… - Clinical …, 2020 - Wiley Online Library
Facioscapulohumeral muscular dystrophy (FSHD), a common hereditary myopathy, is caused either by the contraction of the D4Z4 macrosatellite repeat at the distal end of …
Y Hiramuki, Y Kure, Y Saito, M Ogawa… - Journal of Translational …, 2022 - Springer
Background Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by asymmetric muscle wasting and weakness. FSHD can …
RJLF Lemmers, R Butterfield, PJ van der Vliet… - Brain, 2024 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin …
LH Wang, R Tawil - Journal of Neuromuscular Diseases, 2021 - content.iospress.com
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying …