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Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
Wang JL, Cao L, Li XH, Hu ZM, Li JD, Zhang JG, Liang Y, San-A, Li N, Chen SQ, Guo JF, Jiang H, Shen L, Zheng L, Mao X, Yan WQ, Zhou Y, Shi YT, Ai SX, Dai MZ, Zhang P, Xia K, Chen SD, Tang BS. Wang JL, et al. Among authors: li xh, li n, li jd. Brain. 2011 Dec;134(Pt 12):3493-3501. doi: 10.1093/brain/awr289. Epub 2011 Nov 26. Brain. 2011. PMID: 22120146 Free PMC article.
Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.
Shi Y, Wang J, Li JD, Ren H, Guan W, He M, Yan W, Zhou Y, Hu Z, Zhang J, Xiao J, Su Z, Dai M, Wang J, Jiang H, Guo J, Zhou Y, Zhang F, Li N, Du J, Xu Q, Hu Y, Pan Q, Shen L, Wang G, Xia K, Zhang Z, Tang B. Shi Y, et al. Among authors: li n, li jd. PLoS One. 2013 Dec 2;8(12):e81884. doi: 10.1371/journal.pone.0081884. eCollection 2013. PLoS One. 2013. PMID: 24312598 Free PMC article.
[PRRT2 gene-related paroxysmal disorders].
Li J, Mao X, Wang J, Li N, Tang B. Li J, et al. Among authors: li n. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):595-9. doi: 10.3760/cma.j.issn.1003-9406.2014.01.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25297589 Review. Chinese.
Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene.
Yin XM, Lin JH, Cao L, Zhang TM, Zeng S, Zhang KL, Tian WT, Hu ZM, Li N, Wang JL, Guo JF, Wang RX, Xia K, Zhang ZH, Yin F, Peng J, Liao WP, Yi YH, Liu JY, Yang ZX, Chen Z, Mao X, Yan XX, Jiang H, Shen L, Chen SD, Zhang LM, Tang BS. Yin XM, et al. Among authors: li n. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430. Hum Mol Genet. 2018. PMID: 29294000
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