Facioscapulohumeral muscular dystrophy: the road to targeted therapies
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
https://www.nature.com/articles/s41582-022-00762-2.pdf
Reference239 articles.
1. Deenen, J. C. et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83, 1056–1059 (2014).
2. Lemmers, R. J. et al. A unifying genetic model for facioscapulohumeral muscular dystrophy. Science 329, 1650–1653 (2010).
3. Lemmers, R. J. et al. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat. Genet. 44, 1370–1374 (2012).
4. Tawil, R. et al. Clinical trial preparedness in facioscapulohumeral muscular dystrophy: clinical, tissue, and imaging outcome measures 29–30 May 2015, Rochester, New York. Neuromuscul. Disord. 26, 181–186 (2016).
5. Mul, K. et al. What’s in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pract. Neurol. 16, 201–207 (2016).
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