Facioscapulohumeral Dystrophy: Molecular Basis and Therapeutic Opportunities
T Arends, DC Hamm… - Cold Spring …, 2024 - cshperspectives.cshlp.org
Facioscapulohumeral dystrophy (FSHD) is caused by misexpression of the early embryonic
transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is …
transcription factor Double Homeobox Protein 4 (DUX4) in skeletal muscle. DUX4 is …
[HTML][HTML] Long-read sequencing improves diagnostic rate in neuromuscular disorders
R Owusu, M Savarese - Acta Myologica, 2023 - ncbi.nlm.nih.gov
Massive parallel sequencing methods, such as exome, genome, and targeted DNA
sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years …
sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years …
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing
M Huang, Q Zhang, J Jiao, J Shi, Y Xu, C Zhang… - Journal of Translational …, 2024 - Springer
Background Facioscapulohumeral muscular dystrophy (FSHD) is a high-prevalence
autosomal dominant neuromuscular disease characterized by significant clinical and …
autosomal dominant neuromuscular disease characterized by significant clinical and …