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Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.
Yu E, Rudakou U, Krohn L, Mufti K, Ruskey JA, Asayesh F, Estiar MA, Spiegelman D, Surface M, Fahn S, Waters CH, Greenbaum L, Espay AJ, Dauvilliers Y, Dupré N, Rouleau GA, Hassin-Baer S, Fon EA, Alcalay RN, Gan-Or Z. Yu E, et al. Among authors: alcalay rn. Mov Disord. 2021 Jan;36(1):178-187. doi: 10.1002/mds.28299. Epub 2020 Sep 24. Mov Disord. 2021. PMID: 32970363
LRRK2 kinase activity regulates GCase level and enzymatic activity differently depending on cell type in Parkinson's disease.
Kedariti M, Frattini E, Baden P, Cogo S, Civiero L, Ziviani E, Zilio G, Bertoli F, Aureli M, Kaganovich A, Cookson MR, Stefanis L, Surface M, Deleidi M, Di Fonzo A, Alcalay RN, Rideout H, Greggio E, Plotegher N. Kedariti M, et al. Among authors: alcalay rn. NPJ Parkinsons Dis. 2022 Jul 19;8(1):92. doi: 10.1038/s41531-022-00354-3. NPJ Parkinsons Dis. 2022. PMID: 35853899 Free PMC article.
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Brown EE, Blauwendraat C, Trinh J, Rizig M, Nalls MA, Leveille E, Ruskey JA, Jonvik H, Tan MMX, Bandres-Ciga S, Hassin-Baer S, Brockmann K, Infante J, Tolosa E, Ezquerra M, Ben Romdhan S, Benmahdjoub M, Arezki M, Mhiri C, Hardy J, Singleton AB, Alcalay RN, Gasser T, Grosset DG, Williams NM, Pittman A, Gan-Or Z, Fernandez-Santiago R, Brice A, Lesage S, Farrer M, Wood N, Morris HR; International Parkinson Disease Genomics Consortium (IPDGC). Brown EE, et al. Among authors: alcalay rn. Neurobiol Aging. 2021 Jan;97:148.e17-148.e24. doi: 10.1016/j.neurobiolaging.2020.07.002. Epub 2020 Jul 13. Neurobiol Aging. 2021. PMID: 32873436 Free PMC article.
LRRK2 p.M1646T is associated with glucocerebrosidase activity and with Parkinson's disease.
Sosero YL, Yu E, Krohn L, Rudakou U, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Sardi SP, Bandres-Ciga S, Alcalay RN, Gan-Or Z, Senkevich K. Sosero YL, et al. Among authors: alcalay rn. Neurobiol Aging. 2021 Jul;103:142.e1-142.e5. doi: 10.1016/j.neurobiolaging.2021.02.018. Epub 2021 Feb 28. Neurobiol Aging. 2021. PMID: 33781610 Free PMC article.
Association of Dual LRRK2 G2019S and GBA Variations With Parkinson Disease Progression.
Ortega RA, Wang C, Raymond D, Bryant N, Scherzer CR, Thaler A, Alcalay RN, West AB, Mirelman A, Kuras Y, Marder KS, Giladi N, Ozelius LJ, Bressman SB, Saunders-Pullman R. Ortega RA, et al. Among authors: alcalay rn. JAMA Netw Open. 2021 Apr 1;4(4):e215845. doi: 10.1001/jamanetworkopen.2021.5845. JAMA Netw Open. 2021. PMID: 33881531 Free PMC article.
Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.
Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schüle B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ; 23andMe Research Team; Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Orr Urtreger A, Cannon P, Fiske B, Foroud T. Lai D, et al. Among authors: alcalay rn. Ann Neurol. 2021 Jul;90(1):76-88. doi: 10.1002/ana.26094. Epub 2021 May 17. Ann Neurol. 2021. PMID: 33938021 Free PMC article.
220 results