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β-Glucocerebrosidase activity in <i>GBA</i>-linked Parkinson disease: The type of mutation matters.

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第一作者： Young Eun,Huh

第一单位： From the APDA Center for Advanced Parkinson Research (Y.E.H., J.J.L., Z.L., G.L., K.C., Y.I.K., I.T., M.T.H., C.R.S.) and Precision Neurology Program (Y.E.H., Z.L., G.L., Y.I.K., C.R.S.), Harvard Medical School, and Department of Neurology (Y.E.H., G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; Department of Neurology (Y.E.H.), CHA Bundang Medical Center, CHA University, Seongnam, Korea; Rare and Neurological Diseases Therapeutic Area (M.S.R.C., S.P.S.), Sanofi, Framingham, MA; School of Medicine (G.L.), Sun Yat-Sen University, Guangzhou, Guangdong, China; and Department of Neurology (J.J.L., A.V., A.L.H., M.A.S., A.Y.H., T.M.H., B.T.H., A.-M.W., S.N.G., J.H.G., C.R.S.), Massachusetts General Hospital, Boston.

作者： Young Eun,Huh ^[1] ; Ming Sum Ruby,Chiang ^[1] ; Joseph J,Locascio ^[1] ; Zhixiang,Liao ^[1] ; Ganqiang,Liu ^[1] ; Karbi,Choudhury ^[1] ; Yuliya I,Kuras ^[1] ; Idil,Tuncali ^[1] ; Aleksandar,Videnovic ^[1] ; Ann L,Hunt ^[1] ; Michael A,Schwarzschild ^[1] ; Albert Y,Hung ^[1] ; Todd M,Herrington ^[1] ; Michael T,Hayes ^[1] ; Bradley T,Hyman ^[1] ; Anne-Marie,Wills ^[1] ; Stephen N,Gomperts ^[1] ; John H,Growdon ^[1] ; Sergio Pablo,Sardi ^[1] ; Clemens R,Scherzer ^[2]

作者单位： From the APDA Center for Advanced Parkinson Research (Y.E.H., J.J.L., Z.L., G.L., K.C., Y.I.K., I.T., M.T.H., C.R.S.) and Precision Neurology Program (Y.E.H., Z.L., G.L., Y.I.K., C.R.S.), Harvard Medical School, and Department of Neurology (Y.E.H., G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; Department of Neurology (Y.E.H.), CHA Bundang Medical Center, CHA University, Seongnam, Korea; Rare and Neurological Diseases Therapeutic Area (M.S.R.C., S.P.S.), Sanofi, Framingham, MA; School of Medicine (G.L.), Sun Yat-Sen University, Guangzhou, Guangdong, China; and Department of Neurology (J.J.L., A.V., A.L.H., M.A.S., A.Y.H., T.M.H., B.T.H., A.-M.W., S.N.G., J.H.G., C.R.S.), Massachusetts General Hospital, Boston. ^[1] From the APDA Center for Advanced Parkinson Research (Y.E.H., J.J.L., Z.L., G.L., K.C., Y.I.K., I.T., M.T.H., C.R.S.) and Precision Neurology Program (Y.E.H., Z.L., G.L., Y.I.K., C.R.S.), Harvard Medical School, and Department of Neurology (Y.E.H., G.L., C.R.S.), Brigham and Women's Hospital, Boston, MA; Department of Neurology (Y.E.H.), CHA Bundang Medical Center, CHA University, Seongnam, Korea; Rare and Neurological Diseases Therapeutic Area (M.S.R.C., S.P.S.), Sanofi, Framingham, MA; School of Medicine (G.L.), Sun Yat-Sen University, Guangzhou, Guangdong, China; and Department of Neurology (J.J.L., A.V., A.L.H., M.A.S., A.Y.H., T.M.H., B.T.H., A.-M.W., S.N.G., J.H.G., C.R.S.), Massachusetts General Hospital, Boston. cscherzer@rics.bwh.harvard.edu. ^[2]

医学主题词老年人(Aged);老年人, 80以上(Aged, 80 and over);认知障碍(Cognition Disorders);横断面研究(Cross-Sectional Studies);女(雌)性(Female);随访研究(Follow-Up Studies);遗传关联研究(Genetic Association Studies);葡糖苷酰鞘氨醇酶(Glucosylceramidase);人类(Humans);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);神经病学检查(Neurologic Examination);帕金森病(Parkinson Disease);数量性状基因座位(Quantitative Trait Loci);疾病严重程度指数(Severity of Illness Index)

DOI 10.1212/WNL.0000000000009989

PMID 32540937

发布时间 2024-03-27

基金项目

U24 AG021886/AG/NIA NIH HHS/United States U01 NS100603/NS/NINDS NIH HHS/United States U24 NS095871/NS/NINDS NIH HHS/United States RF1 AG057331/AG/NIA NIH HHS/United States P50 AG005134/AG/NIA NIH HHS/United States K23 NS099380/NS/NINDS NIH HHS/United States U01 NS095736/NS/NINDS NIH HHS/United States R01 NS115144/NS/NINDS NIH HHS/United States

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