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Clinical and biophysical characterization of 19 GJB1 mutations.
Tsai PC, Yang DM, Liao YC, Chiu TY, Kuo HC, Su YP, Guo YC, Soong BW, Lin KP, Liu YT, Lee YC. Tsai PC, et al. Among authors: lin kp. Ann Clin Transl Neurol. 2016 Sep 1;3(11):854-865. doi: 10.1002/acn3.347. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844031 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: lin kp. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058. Brain. 2017. PMID: 28369220 Free PMC article.
262 results