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RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, Raaphorst J, Verschuuren-Bemelmans CC, Straathof CS, Sie LT, de Coo IF, van der Pol WL, de Visser M, Scheffer H, Treves S, Jungbluth H, Voermans NC, Kamsteeg EJ. Snoeck M, et al. Eur J Neurol. 2015 Jul;22(7):1094-112. doi: 10.1111/ene.12713. Epub 2015 May 11. Eur J Neurol. 2015. PMID: 25960145
Novel West syndrome candidate genes in a Chinese cohort.
Peng J, Wang Y, He F, Chen C, Wu LW, Yang LF, Ma YP, Zhang W, Shi ZQ, Chen C, Xia K, Guo H, Yin F, Pang N. Peng J, et al. CNS Neurosci Ther. 2018 Dec;24(12):1196-1206. doi: 10.1111/cns.12860. Epub 2018 Apr 17. CNS Neurosci Ther. 2018. PMID: 29667327 Free PMC article.