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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.
Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.
Wang C, Li Y, Shi L, Ren J, Patti M, Wang T, de Oliveira JR, Sobrido MJ, Quintáns B, Baquero M, Cui X, Zhang XY, Wang L, Xu H, Wang J, Yao J, Dai X, Liu J, Zhang L, Ma H, Gao Y, Ma X, Feng S, Liu M, Wang QK, Forster IC, Zhang X, Liu JY. Wang C, et al. Among authors: liu j, liu m, liu jy. Nat Genet. 2012 Feb 12;44(3):254-6. doi: 10.1038/ng.1077. Nat Genet. 2012. PMID: 22327515
Gain-of-function mutations in SCN11A cause familial episodic pain.
Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY. Zhang XY, et al. Among authors: liu jy. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. Am J Hum Genet. 2013. PMID: 24207120 Free PMC article.
(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. Brain. 2016 Aug;139(Pt 8):e41. doi: 10.1093/brain/aww087. Epub 2016 Apr 16. Brain. 2016. PMID: 27085188 No abstract available.
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. Brain. 2017 Apr 1;140(4):e25. doi: 10.1093/brain/awx028. Brain. 2017. PMID: 28334945 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.
2,866 results