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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: li n, li jc. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population.
Zhao Y, Qin L, Pan H, Liu Z, Jiang L, He Y, Zeng Q, Zhou X, Zhou X, Zhou Y, Fang Z, Wang Z, Xiang Y, Yang H, Wang Y, Zhang K, Zhang R, He R, Zhou X, Zhou Z, Yang N, Liang D, Chen J, Zhang X, Zhou Y, Liu H, Deng P, Xu K, Xu K, Zhou C, Zhong J, Xu Q, Sun Q, Li B, Zhao G, Wang T, Chen L, Shang H, Liu W, Chan P, Xue Z, Wang Q, Guo L, Wang X, Xu C, Zhang Z, Chen T, Lei L, Zhang H, Wang C, Tan J, Yan X, Shen L, Jiang H, Zhang Z, Hu Z, Xia K, Yue Z, Li J, Guo J, Tang B. Zhao Y, et al. Brain. 2020 Jul 1;143(7):2220-2234. doi: 10.1093/brain/awaa167. Brain. 2020. PMID: 32613234
GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.
Pan HX, Zhao YW, Mei JP, Fang ZH, Wang Y, Zhou X, Zhou YJ, Zhang R, Zhang KL, Jiang L, Zeng Q, He Y, Wang Z, Liu ZH, Xu Q, Sun QY, Yang Y, Hu YC, Chen YS, Du J, Lei LF, Zhang HN, Wang CY, Yan XX, Shen L, Jiang H, Tan JQ, Li JC, Tang BS, Guo JF. Pan HX, et al. Among authors: li jc. Transl Neurodegener. 2020 Aug 4;9(1):31. doi: 10.1186/s40035-020-00212-3. Transl Neurodegener. 2020. PMID: 32746945 Free PMC article.
Prediction of the Age at Onset of Spinocerebellar Ataxia Type 3 with Machine Learning.
Peng L, Chen Z, Chen T, Lei L, Long Z, Liu M, Deng Q, Yuan H, Zou G, Wan L, Wang C, Peng H, Shi Y, Wang P, Peng Y, Wang S, He L, Xie Y, Tang Z, Wan N, Gong Y, Hou X, Shen L, Xia K, Li J, Chen C, Zhang Z, Qiu R, Tang B, Jiang H. Peng L, et al. Mov Disord. 2021 Jan;36(1):216-224. doi: 10.1002/mds.28311. Epub 2020 Sep 29. Mov Disord. 2021. PMID: 32991004
1,317 results