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Page 1
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
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.
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
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.
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.
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.
Erdinc D, Rodríguez-Luis A, Fassad MR, Mackenzie S, Watson CM, Valenzuela S, Xie X, Menger KE, Sergeant K, Craig K, Hopton S, Falkous G; Genomics England Research Consortium; Poulton J, Garcia-Moreno H, Giunti P, de Moura Aschoff CA, Morales Saute JA, Kirby AJ, Toro C, Wolfe L, Novacic D, Greenbaum L, Eliyahu A, Barel O, Anikster Y, McFarland R, Gorman GS, Schaefer AM, Gustafsson CM, Taylor RW, Falkenberg M, Nicholls TJ. Erdinc D, et al. Among authors: greenbaum l. EMBO Mol Med. 2023 May 8;15(5):e16775. doi: 10.15252/emmm.202216775. Epub 2023 Apr 4. EMBO Mol Med. 2023. PMID: 37013609 Free PMC article.
Neural correlates of subjective cognitive decline in adults at high risk for Alzheimer's disease.
Ben-Ami L, Ravona-Springer R, Tsarfaty G, Raizman R, Shumacher A, Sharvit-Ginon I, Greenbaum L, Bendlin BB, Okun E, Heymann A, Schnaider Beeri M, Livny A. Ben-Ami L, et al. Among authors: greenbaum l. Front Aging Neurosci. 2023 Feb 1;15:1067196. doi: 10.3389/fnagi.2023.1067196. eCollection 2023. Front Aging Neurosci. 2023. PMID: 36819726 Free PMC article.
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
513 results