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Page 1
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Dworschak GC, et al. Among authors: alcalay r. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. Genet Med. 2021. PMID: 34054129 Free PMC article.
Early-Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK. Kim CY, et al. Ann Neurol. 2020 Nov;88(5):1028-1033. doi: 10.1002/ana.25863. Epub 2020 Aug 22. Ann Neurol. 2020. PMID: 32743835 Free PMC article.
Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Kim CY, Wirth T, Hubsch C, Németh AH, Okur V, Anheim M, Drouot N, Tranchant C, Rudolf G, Chelly J, Tatton-Brown K, Blauwendraat C, Vonsattel JPG, Cortes E, Alcalay RN, Chung WK. Kim CY, et al. Ann Neurol. 2021 Jan;89(1):195-196. doi: 10.1002/ana.25945. Epub 2020 Nov 11. Ann Neurol. 2021. PMID: 33098324 No abstract available.
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Alcalay RN, Mallett V, Vanderperre B, Tavassoly O, Dauvilliers Y, Wu RYJ, Ruskey JA, Leblond CS, Ambalavanan A, Laurent SB, Spiegelman D, Dionne-Laporte A, Liong C, Levy OA, Fahn S, Waters C, Kuo SH, Chung WK, Ford B, Marder KS, Kang UJ, Hassin-Baer S, Greenbaum L, Trempe JF, Wolf P, Oliva P, Zhang XK, Clark LN, Langlois M, Dion PA, Fon EA, Dupre N, Rouleau GA, Gan-Or Z. Alcalay RN, et al. Mov Disord. 2019 Apr;34(4):526-535. doi: 10.1002/mds.27642. Epub 2019 Feb 20. Mov Disord. 2019. PMID: 30788890 Free PMC article.
Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease.
Ouled Amar Bencheikh B, Senkevich K, Rudakou U, Yu E, Mufti K, Ruskey JA, Asayesh F, Laurent SB, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Espay AJ, Dupré N, Greenbaum L, Hassin-Baer S, Rouleau GA, Alcalay RN, Fon EA, Gan-Or Z. Ouled Amar Bencheikh B, et al. Neurobiol Aging. 2020 Sep;93:143.e1-143.e4. doi: 10.1016/j.neurobiolaging.2020.03.021. Epub 2020 Apr 8. Neurobiol Aging. 2020. PMID: 32371106 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. 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.
Gene-wise association of variants in four lysosomal storage disorder genes in neuropathologically confirmed Lewy body disease.
Clark LN, Chan R, Cheng R, Liu X, Park N, Parmalee N, Kisselev S, Cortes E, Torres PA, Pastores GM, Vonsattel JP, Alcalay R, Marder K, Honig LL, Fahn S, Mayeux R, Shelanski M, Di Paolo G, Lee JH. Clark LN, et al. Among authors: alcalay r. PLoS One. 2015 May 1;10(5):e0125204. doi: 10.1371/journal.pone.0125204. eCollection 2015. PLoS One. 2015. PMID: 25933391 Free PMC article.
Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
Nalls MA, Blauwendraat C, Vallerga CL, Heilbron K, Bandres-Ciga S, Chang D, Tan M, Kia DA, Noyce AJ, Xue A, Bras J, Young E, von Coelln R, Simón-Sánchez J, Schulte C, Sharma M, Krohn L, Pihlstrøm L, Siitonen A, Iwaki H, Leonard H, Faghri F, Gibbs JR, Hernandez DG, Scholz SW, Botia JA, Martinez M, Corvol JC, Lesage S, Jankovic J, Shulman LM, Sutherland M, Tienari P, Majamaa K, Toft M, Andreassen OA, Bangale T, Brice A, Yang J, Gan-Or Z, Gasser T, Heutink P, Shulman JM, Wood NW, Hinds DA, Hardy JA, Morris HR, Gratten J, Visscher PM, Graham RR, Singleton AB; 23andMe Research Team; System Genomics of Parkinson's Disease Consortium; International Parkinson's Disease Genomics Consortium. Nalls MA, et al. Lancet Neurol. 2019 Dec;18(12):1091-1102. doi: 10.1016/S1474-4422(19)30320-5. Lancet Neurol. 2019. PMID: 31701892 Free PMC article.
Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease.
Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z; International Parkinson's Disease Genomic Consortium (IPDGC). Leonard H, et al. J Med Genet. 2020 May;57(5):331-338. doi: 10.1136/jmedgenet-2019-106283. Epub 2019 Nov 29. J Med Genet. 2020. PMID: 31784483 Free PMC article.
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. Mov Disord. 2021 Jan;36(1):178-187. doi: 10.1002/mds.28299. Epub 2020 Sep 24. Mov Disord. 2021. PMID: 32970363
306 results