今天是:2020年05月27日 星期三
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帕金森病及运动障碍疾病多中心数据库及协作网(PD-MDCNC)v6.0 Parkinson's Disease & Movement Disorders Multicenter Database and Collaborative Network in China

标志性成果

Zhao YW, Qin LX, Pan HX, Liu ZH, Jiang L, He Y, Zeng Q, Zhou X, Zhou XX, Zhou YJ, Fang ZH, Wang Z, Xiang YQ, Yang HL, Wang YG, Zhang KL, Zhang R, He RC, Zhou XT, Zhou Z, Yang NN, Liang DX, Chen J, Zhang XX, Zhou Y, Liu HL,1 Deng PH, Xu K, Xu K, Zhou CJ, Zhong JF, Xu Q, Sun QY, Li B, Zhao GH, Wang T, Chen L, Shang HF, Liu WG, Chan P, Xue Z, Wang Q, Guo L, Wang XJ, Xu CS, Zhang ZT, Chen T, Lei LF, Zhang HN, Wang CY, Tan JQ, Yan XX, Shen L, Jiang H, Zhang ZH, Hu ZM, Xia K, Yue ZY, Li JC, Guo JF, Tang BS. The role of genetics in Parkinson's Disease: a large cohort study in Chinese mainland population.Brain. 2020 accepted.

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Sun QY, Xu Q, Tian Y, Hu ZM, Qin LX,Yang JX, Huang W, Xue J, Li JC, Zeng S, Wang Y, Min HX, Chen XY, Wang JP, Xie B, Liang F, Zhang HN, Wang CY, Lei LF, Yan XX, Xu HW,Duan RH, Xia K, Liu JY, Jiang H, Shen L, Guo JF, and Tang BS. Expansion of GGC repeat in human-specific NOTCH2NLC gene is associated with Essential Tremor. Brain. 2020 Jan 1;143(1):222-233. 

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Tian Y, Wang JL, Huang W, Zeng S, Jiao B, Liu Z, Chen Z, Li Y, Wang Y, Min HX, Wang XJ, You Y, Zhang RX, Chen XY, Yi F, Zhou YF, Long HY, Zhou CJ, Hou X, Wang JP, Xie B, Liang F, Yang ZY, Sun QY, Allen EG, Shafik AM, Kong HE, Guo JF, Yan XX, Hu ZM, Xia K, Jiang H, Xu HW, Duan RH, Jin P, Tang BS, Shen L. Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders. Am J Hum Genet. 2019 Jul 3;105(1):166-176.

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Guo JF, Zhang L, Li K, Mei JP, Xue J, Chen J, Tang X, Shen L, Jiang H, Chen C, Guo H, Wu XL, Sun SL, Xu Q, Sun QY, Chan P, Shang HF, Wang T, Zhao GH, Liu JY, Xie XF, Jiang YQ, Liu ZH, Zhao YW, Zhu ZB, Li JD, Hu ZM, Yan XX, Fang XD, Wang GH, Zhang FY, Xia K, Liu CY, Zhu XW, Yue ZY, Li SC, Cai HB, Zhang ZH, Duan RH, Tang BS. Coding mutations in NUS1 contribute to Parkinson's disease. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):11567-11572.

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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. Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene. Hum Mol Genet. 2018 Feb 15;27(4):757-758.

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Tang Y, Liu B, Yang Y, Wang CM, Meng L, Tang BS, Guo JF. Identifying mild-moderate Parkinson's disease using whole-brain functional connectivity. Clin Neurophysiol. 2018 Dec;129(12):2507-2516.

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Zhang Y, Zhao Y, Zhou X, Yi M, Li K, Zhou X, Guo J, Xu Q, Yan X, Tang B, Sun Q. Relationship between GWAS-linked three new loci in Essential tremor and risk of Parkinson's disease in Chinese population.Parkinsonism Relat Disord. 2017 Oct;43:124-126.

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Xu Q, Li K, Sun QY, Ding DX, Zhao Yw, Yang Nn , Luo Y, Liu ZH, ZhangY, Wang CR, Xia K, Yan XX, Jiang H, Lu S, Tang BS, Guo JF. Rare GCH1 heterozygous variants contributing to Parkinson's disease. Brain, 2017 Jul 1;140(7):e41.

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Yan W, Tang B, Zhou X, Lei L, Li K, Sun Q, Xu Q, Yan X, Guo J, Liu Z.TMEM230 mutation analysis in Parkinson's disease in a Chinese population.Neurobiol Aging. 2016(16)30247-0.

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Wang YQ , Tang BS, Yang Y, Cui YT, Kang JF, Liu ZH, Li K, Sun QY, Xu Q, Yan XX, Guo JF. Relationship between Alzheimer's disease GWAS-linked top hits and risk of Parkinson's disease with or without cognitive decline: a Chinese population-based study.Neurobiol Aging. 2016 Mar;39:217.e9-217.e11.

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Liu Z, Guo J, Li K, Qin L, Kang J, Shu L, Zhang Y, Wei Y, Yang N, Luo Y, Sun Q, Xu Q, Yan X, Tang B.Mutation analysis of CHCHD2 gene in Chinese familial Parkinson's disease.Neurobiol Aging. 2015 Nov;36(11):3117.e7-8.

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Li K, Tang BS, Liu ZH, Kang JF, Zhang Y, Shen L,Yan XX, Xia K, Guo JF. LRRK2 A419V variant is a risk factor for Parkinson's disease in Asian population. Neurobiology of Aging 36 (2015) 2908.e11-15.

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Liu ZH, Guo JF, Wang YQ, Li K, Sun QY, Xu Q, Yan XX,Xu CS,Tang BS.Assessment of RIT2 rs12456492 association with Parkinson's disease in Mainland China.Neurobiol Aging.2015 Mar;36(3):1600.e9-1600.e11.

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Guo JF, Li K, Yu RL, Sun QY, Wang L, Yao LY, Hu YC, Lv ZY, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Tang BS. Polygenic determinants of Parkinson's disease in a Chinese population. Neurobiol Aging.2015 Apr;36(4):1765.e1-6.

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Guo JF, Sun QY, Lv ZY, Yu RL, Li K, Zhang YH, Tian JY, Xia K, Yan XX, Tang BS. VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population. Parkinsonism & Related Disorders.2012, 18(8): 983-5.

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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.Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.Brain. 2011 Dec;134(Pt 12):3493-3501.

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Shi CH, Tang BS, Wang L, Lv ZY, Wang J, Luo LZ, Shen L, Jiang H, Yan XX, Pan Q, Xia K, Guo JF. PLA2G6 gene mutation in autosomal recessive early-onset parkinsonism in a Chinese cohort. Neurology, 2011, 77(1):75-81.

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Sun QY, Guo JF, Wang L, Yu RH, Zuo X,Yao LY, Pan Q, Xia K, Tang BS. Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population. Mov Disord. 2010;25(8):1005-1011.

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Guo JF, Zhang XW, Nie LL, Zhang HN, Liao B, Xiao B, Li J, Wang L, Yan XX, Tang BS.Mutation Analysis of Parkin, PINK1 and DJ-1 Genes in Chinese Patients with Early-onset Parkinsonism. J Neurol. 2010,257(7):1170-1175.

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Wang JL, Yang X, Xia K, Hu ZM, Weng L, Jin X, Jiang H, Zhang P, Shen L, Guo JF, Li N, Li YR, Lei LF, Zhou J, Du J, Zhou YF, Pan Q, Wang J, Wang J, Li RQ, Tang BS.TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.Brain. 2010 Dec;133(Pt 12):3510-8.

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