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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. Among authors: fahn s. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort.
Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tu… See abstract for full author list ➔ Vollstedt EJ, et al. Among authors: fahn s. Mov Disord. 2023 Feb;38(2):286-303. doi: 10.1002/mds.29288. Epub 2023 Jan 24. Mov Disord. 2023. PMID: 36692014 Free article.
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations.
Agin-Liebes J, Hickman RA, Vonsattel JP, Faust PL, Flowers X, Utkina Sosunova I, Ntiri J, Mayeux R, Surface M, Marder K, Fahn S, Przedborski S, Alcalay RN. Agin-Liebes J, et al. Among authors: fahn s. Mov Disord. 2023 Aug;38(8):1541-1545. doi: 10.1002/mds.29449. Epub 2023 May 23. Mov Disord. 2023. PMID: 37218402 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, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: fahn s. Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. Epub 2023 Jun 28. Mov Disord. 2023. PMID: 37381728 Free PMC article.
Correction: 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, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, 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: fahn s. Mol Neurodegener. 2024 Dec 18;19(1):94. doi: 10.1186/s13024-024-00791-z. Mol Neurodegener. 2024. PMID: 39696367 Free PMC article. No abstract available.
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, Karpilovsky N, Senkevich K, Deyab G, Pietrantonio I, Goiran T, Cousineau Y, Nikanorova D, Goldsmith T, Del Cid Pellitero E, Chen CX, Luo W, You Z, Abdian N, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, 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: fahn s. Mol Neurodegener. 2024 Nov 25;19(1):88. doi: 10.1186/s13024-024-00779-9. Mol Neurodegener. 2024. PMID: 39587654 Free PMC article.
Genome-wide association study of glucocerebrosidase activity modifiers.
Somerville EN, Krohn L, Senkevich K, Yu E, Ahmad J, Asayesh F, Ruskey JA, Speigelman D, Fahn S, Waters C, Sardi SP, Alcalay RN, Gan-Or Z. Somerville EN, et al. Among authors: fahn s. Res Sq [Preprint]. 2024 Jun 7:rs.3.rs-4425669. doi: 10.21203/rs.3.rs-4425669/v1. Res Sq. 2024. PMID: 38883744 Free PMC article. Preprint.
Intrinsic auricular muscle zone stimulation for Parkinson disease: The EARSTIM-PD Phase II multi-center pilot study results.
Fernandez HH, Macklin EA, Hauser RA, Chou KL, Cakmak YO, Ozsoy B, Fahn S; Parkinson Study Group EARSTIM-PD Investigators. Fernandez HH, et al. Among authors: fahn s. Parkinsonism Relat Disord. 2024 Apr;121:105959. doi: 10.1016/j.parkreldis.2023.105959. Epub 2023 Dec 27. Parkinsonism Relat Disord. 2024. PMID: 38246833 Clinical Trial.
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: fahn s. medRxiv [Preprint]. 2023 Mar 13:2023.03.08.23286773. doi: 10.1101/2023.03.08.23286773. medRxiv. 2023. Update in: Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521 PMID: 36993451 Free PMC article. Updated. Preprint.
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