Facioscapulohumeral muscular dystrophy: the road to targeted therapies

MS Tihaya, K Mul, J Balog, JC de Greef… - Nature Reviews …, 2023 - nature.com
Advances in the molecular understanding of facioscapulohumeral muscular dystrophy
(FSHD) have revealed that FSHD results from epigenetic de-repression of the DUX4 gene in …

[HTML][HTML] Facioscapulohumeral muscular dystrophy: update on pathogenesis and future treatments

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 …

[HTML][HTML] Current therapeutic approaches in FSHD

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 …

[HTML][HTML] Outcome measures in facioscapulohumeral muscular dystrophy clinical trials

M Ghasemi, CP Emerson Jr, LJ Hayward - Cells, 2022 - mdpi.com
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 …

Facioscapulohumeral muscular dystrophy

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 …

Therapeutic approaches in facioscapulohumeral muscular dystrophy

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 …

[HTML][HTML] Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update

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 …

Facioscapulohumeral dystrophy: activating an early embryonic transcriptional program in human skeletal muscle

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 …

[HTML][HTML] Clinical trial readiness to solve barriers to drug development in FSHD (ReSolve): protocol of a large, international, multi-center prospective study

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 …

Facioscapulohumeral muscular dystrophy type 2: An update on the clinical, genetic, and molecular findings

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 …