Facioscapulohumeral Muscular Dystrophy (FSHD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1485-1
Reference20 articles.
1. Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ (1981) Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve 4(3):186–197. https://doi.org/10.1002/mus.880040304
2. Cohen J, DeSimone A, Lek M, Lek A (2021) Therapeutic approaches in facioscapulohumeral muscular dystrophy. Trends Mol Med 27(2):123–137. https://doi.org/10.1016/j.molmed.2020.09.008. Epub 2020 Oct 19
3. Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG (2014) Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83(12):1056–1059. https://doi.org/10.1212/WNL.0000000000000797
4. DeSimone AM, Pakula A, Lek A, Emerson CP Jr (2017) Facioscapulohumeral muscular dystrophy. Compr Physiol 7(4):1229–1279. https://doi.org/10.1002/cphy.c160039
5. Emmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM (2012) Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet 44(12):1370–1374. https://doi.org/10.1038/ng.2454. Epub 2012 Nov 11
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