J Hamel, R Tawil - Neurotherapeutics, 2018 - Elsevier
A reliable model of a disease pathomechanism is the first step to develop targeted treatment. In facioscapulohumeral muscular dystrophy (FSHD), the third most common muscular …
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 …
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease …
R Tawil - Handbook of clinical neurology, 2018 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common forms of muscular dystrophy with a distinctive pattern of skeletal muscle weakness and a wide …
J Cohen, A DeSimone, M Lek, A Lek - Trends in molecular medicine, 2021 - cell.com
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common types of muscular dystrophy, affecting roughly one in 8000 individuals. The complex underlying …
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 …
AE Campbell, AE Belleville, R Resnick… - Human molecular …, 2018 - academic.oup.com
Facioscapulohumeral dystrophy (FSHD) is the third most prevalent muscular dystrophy. A progressive disease, it presents clinically as weakness and wasting of the face, shoulder …
S LoRusso, NE Johnson, MP McDermott, K Eichinger… - BMC neurology, 2019 - Springer
Background Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly-inherited progressive muscular dystrophy caused by de-repression of the DUX4 gene, which causes …
FF Jia, AP Drew, GA Nicholson, A Corbett… - Neuromuscular …, 2021 - Elsevier
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular …