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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. 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.
Mutations in KCND3 cause spinocerebellar ataxia type 22.
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW. Lee YC, et al. Among authors: tsai pc. Ann Neurol. 2012 Dec;72(6):859-69. doi: 10.1002/ana.23701. Ann Neurol. 2012. PMID: 23280837 Free PMC article.
435 results