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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: li sc, li k, li jd. 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.
MicroRNA profiling in the serums of SCA3/MJD patients.
Shi Y, Huang F, Tang B, Li J, Wang J, Shen L, Xia K, Jiang H. Shi Y, et al. Int J Neurosci. 2014 Feb;124(2):97-101. doi: 10.3109/00207454.2013.827679. Epub 2013 Aug 22. Int J Neurosci. 2014. PMID: 23879331
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.
SLC39A5 mutations interfering with the BMP/TGF-β pathway in non-syndromic high myopia.
Guo H, Jin X, Zhu T, Wang T, Tong P, Tian L, Peng Y, Sun L, Wan A, Chen J, Liu Y, Li Y, Tian Q, Xia L, Zhang L, Pan Y, Lu L, Liu Q, Shen L, Li Y, Xiong W, Li J, Tang B, Feng Y, Zhang X, Zhang Z, Pan Q, Hu Z, Xia K. Guo H, et al. J Med Genet. 2014 Aug;51(8):518-25. doi: 10.1136/jmedgenet-2014-102351. Epub 2014 Jun 2. J Med Genet. 2014. PMID: 24891338 Free PMC article.
629 results