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Exclusion of the DYT1 locus in a non-Jewish family with early-onset dystonia.

Autor: Bressman, Susan B., Hunt, Ann L., Heiman, Gary A., Brin, Mitchell F., Burke, Robert E., Fahn, Stanley, Trugman, Joel M., de Leon, Deborah, Kramer, Patricia L., Wilhelmsen, Kirk C., Nygaard, Torbjoern G.

Publikováno v: Movement Disorders; 1994, Vol. 9 Issue 6, p626-632, 7p

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

Autor: Huh YE; 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., Chiang MSR; 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., Locascio JJ; 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., Liao Z; 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., Liu G; 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., Choudhury K; 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., Kuras YI; 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., Tuncali I; 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., Videnovic A; 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., Hunt AL; 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., Schwarzschild MA; 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., Hung AY; 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., Herrington TM; 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., Hayes MT; 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., Hyman BT; 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., Wills AM; 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., Gomperts SN; 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., Growdon JH; 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., Sardi SP; 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., Scherzer CR; 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.

Publikováno v: Neurology [Neurology] 2020 Aug 11; Vol. 95 (6), pp. e685-e696. Date of Electronic Publication: 2020 Jun 15.