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A missense mutation in human INSC causes peripheral neuropathy.
Yeh JY, Chao HC, Hong CL, Hung YC, Tzou FY, Hsiao CT, Li JL, Chen WJ, Chou CT, Tsai YS, Liao YC, Lin YC, Lin S, Huang SY, Kennerson M, Lee YC, Chan CC. Yeh JY, et al. Among authors: chan cc. EMBO Mol Med. 2024 May;16(5):1091-1114. doi: 10.1038/s44321-024-00062-w. Epub 2024 Apr 8. EMBO Mol Med. 2024. PMID: 38589651 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: chan cc. Brain. 2017 May 1;140(5):1252-1266. doi: 10.1093/brain/awx058. Brain. 2017. PMID: 28369220 Free PMC article.
UQCRC1 engages cytochrome c for neuronal apoptotic cell death.
Hung YC, Huang KL, Chen PL, Li JL, Lu SH, Chang JC, Lin HY, Lo WC, Huang SY, Lee TT, Lin TY, Imai Y, Hattori N, Liu CS, Tsai SY, Chen CH, Lin CH, Chan CC. Hung YC, et al. Among authors: chan cc. Cell Rep. 2021 Sep 21;36(12):109729. doi: 10.1016/j.celrep.2021.109729. Cell Rep. 2021. PMID: 34551295 Free article.
1,971 results