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1989 1
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Page 1
Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects.
Krohn L, Heilbron K, Blauwendraat C, Reynolds RH, Yu E, Senkevich K, Rudakou U, Estiar MA, Gustavsson EK, Brolin K, Ruskey JA, Freeman K, Asayesh F, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Šonka K, Kemlink D, Oertel W, Janzen A, Plazzi G, Biscarini F, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Monaca CC, Heidbreder A, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF; 23andMe Research Team; Scholz SW, Ryten M, Bandres-Ciga S, Noyce A, Cannon P, Pihlstrøm L, Nalls MA, Singleton AB, Rouleau GA, Postuma RB, Gan-Or Z. Krohn L, et al. Among authors: ruskey ja. Nat Commun. 2022 Dec 5;13(1):7496. doi: 10.1038/s41467-022-34732-5. Nat Commun. 2022. PMID: 36470867 Free PMC article.
Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia.
Blauwendraat C, Reed X, Krohn L, Heilbron K, Bandres-Ciga S, Tan M, Gibbs JR, Hernandez DG, Kumaran R, Langston R, Bonet-Ponce L, Alcalay RN, Hassin-Baer S, Greenbaum L, Iwaki H, Leonard HL, Grenn FP, Ruskey JA, Sabir M, Ahmed S, Makarious MB, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ; 23andMe Research Team; Pantelyat A, Hillis AE, Dawson TM, Rosenthal LS, Albert MS, Resnick SM, Ferrucci L, Morris CM, Pletnikova O, Troncoso J, Grosset D, Lesage S, Corvol JC, Brice A, Noyce AJ, Masliah E, Wood N, Hardy J, Shulman LM, Jankovic J, Shulman JM, Heutink P, Gasser T, Cannon P, Scholz SW, Morris H, Cookson MR, Nalls MA, Gan-Or Z, Singleton AB. Blauwendraat C, et al. Among authors: ruskey ja. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
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: ruskey ja. 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, Trempe JF, Zakharova E, Alcalay RN, Pchelina S, Gan-Or Z. Senkevich K, et al. Among authors: ruskey ja. Mov Disord. 2023 Oct;38(10):1806-1812. doi: 10.1002/mds.29521. Epub 2023 Jun 28. Mov Disord. 2023. PMID: 37381728
HLA in isolated REM sleep behavior disorder and Lewy body dementia.
Yu E, Krohn L, Ruskey JA, Asayesh F, Spiegelman D, Shah Z, Chia R, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Dauvilliers Y, Gigli GL, Valente M, Janes F, Bernardini A, Högl B, Stefani A, Ibrahim A, Heidbreder A, Sonka K, Dusek P, Kemlink D, Oertel W, Janzen A, Plazzi G, Antelmi E, Figorilli M, Puligheddu M, Mollenhauer B, Trenkwalder C, Sixel-Döring F, Cochen De Cock V, Ferini-Strambi L, Dijkstra F, Viaene M, Abril B, Boeve BF, Rouleau GA, Postuma RB; International LBD Genomics Consortium; Scholz SW, Gan-Or Z. Yu E, et al. Among authors: ruskey ja. Ann Clin Transl Neurol. 2023 Sep;10(9):1682-1687. doi: 10.1002/acn3.51841. Epub 2023 Jul 4. Ann Clin Transl Neurol. 2023. PMID: 37401389 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: ruskey ja. 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.
Dopamine pathway and Parkinson's risk variants are associated with levodopa-induced dyskinesia.
Sosero YL, Bandres-Ciga S, Ferwerda B, Tocino MTP, Belloso DR, Gómez-Garre P, Faouzi J, Taba P, Pavelka L, Marques TM, Gomes CPC, Kolodkin A, May P, Milanowski LM, Wszolek ZK, Uitti RJ, Heutink P, van Hilten JJ, Simon DK, Eberly S, Alvarez I, Krohn L, Yu E, Freeman K, Rudakou U, Ruskey JA, Asayesh F, Menéndez-Gonzàlez M, Pastor P, Ross OA, Krüger R, Corvol JC, Koks S, Mir P, De Bie RMA, Iwaki H, Gan-Or Z. Sosero YL, et al. Among authors: ruskey ja. medRxiv [Preprint]. 2023 Sep 20:2023.08.28.23294610. doi: 10.1101/2023.08.28.23294610. medRxiv. 2023. PMID: 37790572 Free PMC article. Preprint.
NPC1 variants are not associated with Parkinson's disease, REM-sleep behavior disorder or dementia with Lewy bodies in European cohorts.
Somerville EN, Krohn L, Yu E, Rudakou U, Senkevich K, Ruskey JA, Asayesh F, Ahmad J, Spiegelman D, Dauvilliers Y, Arnulf I, Hu MTM, Montplaisir JY, Gagnon JF, Desautels A, Ibrahim A, Stefani A, Högl B, Gigli GL, Valente M, Janes F, Bernardini A, Dusek P, Sonka K, Kemlink D, Plazzi G, Antelmi E, Biscarini F, Mollenhauer B, Trenkwalder C, Sixel-Doring F, Figorilli M, Puligheddu M, De Cock VC, Oertel W, Janzen A, Ferini-Strambi L, Heibreder A, Monaca CC, Abril B, Dijkstra F, Viaene M, Boeve BF, Postuma RB, Rouleau GA, Gan-Or Z. Somerville EN, et al. Among authors: ruskey ja. Neurobiol Aging. 2023 Jul;127:94-98. doi: 10.1016/j.neurobiolaging.2023.03.002. Epub 2023 Mar 8. Neurobiol Aging. 2023. PMID: 37032242
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: ruskey ja. bioRxiv [Preprint]. 2023 Nov 15:2023.11.11.566693. doi: 10.1101/2023.11.11.566693. bioRxiv. 2023. PMID: 38014143 Free PMC article. Preprint.
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7.
Estiar MA, Yu E, Haj Salem I, Ross JP, Mufti K, Akçimen F, Leveille E, Spiegelman D, Ruskey JA, Asayesh F, Dagher A, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Dion PA, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z. Estiar MA, et al. Among authors: ruskey ja. Mov Disord. 2021 Jul;36(7):1664-1675. doi: 10.1002/mds.28528. Epub 2021 Feb 17. Mov Disord. 2021. PMID: 33598982
47 results