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Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease.
Chen Z, Wang C, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Sequeiros J, Ashizawa T, Tang B, Jiang H; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA). Chen Z, et al. Among authors: liu j. Brain. 2017 Apr 1;140(4):e25. doi: 10.1093/brain/awx028. Brain. 2017. PMID: 28334945 No abstract available.
(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China.
Chen Z, Zheng C, Long Z, Cao L, Li X, Shang H, Yin X, Zhang B, Liu J, Ding D, Peng Y, Wang C, Peng H, Ye W, Qiu R, Pan Q, Xia K, Chen S, Sequeiros J, Ashizawa T, Klockgether T, Tang B, Jiang H; Chinese Clinical Research Cooperative Group for Spinocerebellar Ataxias (CCRCG-SCA). Chen Z, et al. Among authors: liu j. Brain. 2016 Aug;139(Pt 8):e41. doi: 10.1093/brain/aww087. Epub 2016 Apr 16. Brain. 2016. PMID: 27085188 No abstract available.
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: liu jy. Hum Mol Genet. 2018 Feb 15;27(4):625-637. doi: 10.1093/hmg/ddx430. Hum Mol Genet. 2018. PMID: 29294000
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: liu jy. Hum Mol Genet. 2018 Feb 15;27(4):757-758. doi: 10.1093/hmg/ddy025. Hum Mol Genet. 2018. PMID: 29351621 No abstract available.
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. 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
Coding mutations in NUS1 contribute to Parkinson's disease.
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. Guo JF, et al. Among authors: liu cy, liu zh, liu jy. Proc Natl Acad Sci U S A. 2018 Nov 6;115(45):11567-11572. doi: 10.1073/pnas.1809969115. Epub 2018 Oct 22. Proc Natl Acad Sci U S A. 2018. PMID: 30348779 Free PMC article.
Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.
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, Tang BS. Sun QY, et al. Among authors: liu jy. Brain. 2020 Jan 1;143(1):222-233. doi: 10.1093/brain/awz372. Brain. 2020. PMID: 31819945
Biallelic loss-of-function mutations in JAM2 cause primary familial brain calcification.
Cen Z, Chen Y, Chen S, Wang H, Yang D, Zhang H, Wu H, Wang L, Tang S, Ye J, Shen J, Wang H, Fu F, Chen X, Xie F, Liu P, Xu X, Cao J, Cai P, Pan Q, Li J, Yang W, Shan PF, Li Y, Liu JY, Zhang B, Luo W. Cen Z, et al. Among authors: liu p, liu jy. Brain. 2020 Feb 1;143(2):491-502. doi: 10.1093/brain/awz392. Brain. 2020. PMID: 31851307
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