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A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. Hong YB, et al. Among authors: choi bo, choi yr. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829. eCollection 2016 Feb. PLoS Genet. 2016. PMID: 26828946 Free PMC article.
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
Tsai PC, Soong BW, Mademan I, Huang YH, Liu CR, Hsiao CT, Wu HT, Liu TT, Liu YT, Tseng YT, Lin KP, Yang UC, Chung KW, Choi BO, Nicholson GA, Kennerson ML, Chan CC, De Jonghe P, Cheng TH, Liao YC, Züchner S, Baets J, Lee YC. Tsai PC, et al. Among authors: choi bo. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058. Brain. 2017. PMID: 28369220 Free PMC article.
782 results