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Page 1
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Frequency of Loss of Function Variants in LRRK2 in Parkinson Disease.
Blauwendraat C, Reed X, Kia DA, Gan-Or Z, Lesage S, Pihlstrøm L, Guerreiro R, Gibbs JR, Sabir M, Ahmed S, Ding J, Alcalay RN, Hassin-Baer S, Pittman AM, Brooks J, Edsall C, Hernandez DG, Chung SJ, Goldwurm S, Toft M, Schulte C, Bras J, Wood NW, Brice A, Morris HR, Scholz SW, Nalls MA, Singleton AB, Cookson MR; COURAGE-PD (Comprehensive Unbiased Risk Factor Assessment for Genetics and Environment in Parkinson’s Disease) Consortium, the French Parkinson’s Disease Consortium, and the International Parkinson’s Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. JAMA Neurol. 2018 Nov 1;75(11):1416-1422. doi: 10.1001/jamaneurol.2018.1885. JAMA Neurol. 2018. PMID: 30039155 Free PMC article.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Senkevich K, Karpilovsky N, Deyab G, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Pietrantonio I, Goiran T, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupré N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, Hassin-Baer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Among authors: hassin baer s. bioRxiv [Preprint]. 2023 Nov 15:2023.11.11.566693. doi: 10.1101/2023.11.11.566693. bioRxiv. 2023. PMID: 38014143 Free PMC article. Preprint.
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons.
Jones-Tabah J, He K, Senkevich K, Karpilovsky N, Deyab G, Cousineau Y, Nikanorova D, Goldsmith T, Del-Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Pietrantonio I, Goiran T, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Waters C, Monchi O, Dauvilliers Y, Dupre N, Miliukhina I, Timofeeva A, Emelyanov A, Pchelina S, Greenbaum L, HassinBaer S, Alcalay RN, Milnerwood A, Durcan TM, Gan-Or Z, Fon EA. Jones-Tabah J, et al. Res Sq [Preprint]. 2024 Mar 19:rs.3.rs-3979098. doi: 10.21203/rs.3.rs-3979098/v1. Res Sq. 2024. PMID: 38562709 Free PMC article. Preprint.
Safety and efficacy of continuous subcutaneous levodopa-carbidopa infusion (ND0612) for Parkinson's disease with motor fluctuations (BouNDless): a phase 3, randomised, double-blind, double-dummy, multicentre trial.
Espay AJ, Stocchi F, Pahwa R, Albanese A, Ellenbogen A, Ferreira JJ, Giladi N, Gurevich T, Hassin-Baer S, Hernandez-Vara J, Isaacson SH, Kieburtz K, LeWitt PA, Lopez-Manzanares L, Olanow CW, Poewe W, Sarva H, Yardeni T, Adar L, Salin L, Lopes N, Sasson N, Case R, Rascol O; BouNDless Study Group. Espay AJ, et al. Among authors: hassin baer s. Lancet Neurol. 2024 May;23(5):465-476. doi: 10.1016/S1474-4422(24)00052-8. Epub 2024 Mar 15. Lancet Neurol. 2024. PMID: 38499015 Clinical Trial.
Are LRRK2 p.G2019S or GBA1 variants associated with long-term outcomes of deep brain stimulation for Parkinson's disease?
Anis S, Goldberg T, Shvueli E, Kozlov Y, Redlich Y, Lavi N, Lavie I, Sosero YL, Gan-Or Z, Ungar L, Zibly Z, Greenbaum L, Fay-Karmon T, Hassin-Baer S. Anis S, et al. Among authors: hassin baer s. Parkinsonism Relat Disord. 2024 Jan 12:106008. doi: 10.1016/j.parkreldis.2024.106008. Online ahead of print. Parkinsonism Relat Disord. 2024. PMID: 38242744
Adult-onset Alexander disease among patients of Jewish Syrian descent.
Anis S, Fay-Karmon T, Lassman S, Shbat F, Lesman-Segev O, Mor N, Barel O, Dominissini D, Chorin O, Pras E, Greenbaum L, Hassin-Baer S. Anis S, et al. Among authors: hassin baer s. Neurogenetics. 2023 Oct;24(4):303-310. doi: 10.1007/s10048-023-00732-w. Epub 2023 Sep 2. Neurogenetics. 2023. PMID: 37658208
148 results