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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. Among authors: greenbaum l. 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.
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: greenbaum l. bioRxiv [Preprint]. 2023 Nov 15:2023.11.11.566693. doi: 10.1101/2023.11.11.566693. bioRxiv. 2023. PMID: 38014143 Free PMC article. Preprint.
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. Among authors: greenbaum l. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Association of rare variants in ARSA with Parkinson's disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: greenbaum l. medRxiv [Preprint]. 2023 Mar 13:2023.03.08.23286773. doi: 10.1101/2023.03.08.23286773. medRxiv. 2023. PMID: 36993451 Free PMC article. Updated. Preprint.
Association of Rare Variants in ARSA with Parkinson's Disease.
Senkevich K, Beletskaia M, Dworkind A, Yu E, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Nagornov I, Tyurin A, Miliukhina I, Timofeeva A, Emelyanov A, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: greenbaum l. Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. Epub 2023 Jun 28. Mov Disord. 2023. PMID: 37381728
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: greenbaum l. Neurogenetics. 2023 Oct;24(4):303-310. doi: 10.1007/s10048-023-00732-w. Epub 2023 Sep 2. Neurogenetics. 2023. PMID: 37658208
Ocular manifestations and outcomes of OPMD- a report from the national IsrOPMD registry.
Mekiten O, Zvulunov A, Ben Simon G, Charas H, Ben-David M, Shelly S, Greenbaum L, Dori A, Benyamini L, Zur D, Levi N, Landau Prat D, Zloto O. Mekiten O, et al. Among authors: greenbaum l. Eur J Ophthalmol. 2024 May 29:11206721241259145. doi: 10.1177/11206721241259145. Online ahead of print. Eur J Ophthalmol. 2024. PMID: 38809679 Review.
Growth in children with nephrotic syndrome: a post hoc analysis of the NEPTUNE study.
Maniar A, Gipson DS, Brady T, Srivastava T, Selewski DT, Greenbaum LA, Dell KM, Kaskel F, Massengill S, Tran C, Trachtman H, Lafayette R, Almaani S, Hingorani S, Wang CS, Reidy K, Cara-Fuentes G, Gbadegesin R, Myers K, Sethna CB; Members of the Nephrotic Syndrome Study Network (NEPTUNE). Maniar A, et al. Among authors: greenbaum la. Pediatr Nephrol. 2024 Apr 26. doi: 10.1007/s00467-024-06375-9. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38671228
516 results