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Page 1
Deficiency in endocannabinoid synthase DAGLB contributes to early onset Parkinsonism and murine nigral dopaminergic neuron dysfunction.
Liu Z, Yang N, Dong J, Tian W, Chang L, Ma J, Guo J, Tan J, Dong A, He K, Zhou J, Cinar R, Wu J, Salinas AG, Sun L, Kumar M, Sullivan BT, Oldham BB, Pitz V, Makarious MB, Ding J, Kung J, Xie C, Hawes SL, Wang L, Wang T, Chan P, Zhang Z, Le W, Chen S, Lovinger DM, Blauwendraat C, Singleton AB, Cui G, Li Y, Cai H, Tang B. Liu Z, et al. Among authors: singleton ab. Nat Commun. 2022 Jun 17;13(1):3490. doi: 10.1038/s41467-022-31168-9. Nat Commun. 2022. PMID: 35715418 Free PMC article.
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: singleton ab. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
Predicting progression in patients with Parkinson's disease.
Blauwendraat C, Bandrés-Ciga S, Singleton AB. Blauwendraat C, et al. Among authors: singleton ab. Lancet Neurol. 2017 Nov;16(11):860-862. doi: 10.1016/S1474-4422(17)30331-9. Epub 2017 Sep 25. Lancet Neurol. 2017. PMID: 28958800 Free PMC article. No abstract available.
The genetic architecture of Parkinson's disease.
Blauwendraat C, Nalls MA, Singleton AB. Blauwendraat C, et al. Among authors: singleton ab. Lancet Neurol. 2020 Feb;19(2):170-178. doi: 10.1016/S1474-4422(19)30287-X. Epub 2019 Sep 11. Lancet Neurol. 2020. PMID: 31521533 Free PMC article. Review.
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: singleton ab. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information.
Guelfi S, D'Sa K, Botía JA, Vandrovcova J, Reynolds RH, Zhang D, Trabzuni D, Collado-Torres L, Thomason A, Quijada Leyton P, Gagliano Taliun SA, Nalls MA; International Parkinson’s Disease Genomics Consortium (IPDGC); UK Brain Expression Consortium (UKBEC); Small KS, Smith C, Ramasamy A, Hardy J, Weale ME, Ryten M. Guelfi S, et al. Nat Commun. 2020 Feb 25;11(1):1041. doi: 10.1038/s41467-020-14483-x. Nat Commun. 2020. PMID: 32098967 Free PMC article.
Comprehensive assessment of PINK1 variants in Parkinson's disease.
Krohn L, Grenn FP, Makarious MB, Kim JJ, Bandres-Ciga S, Roosen DA, Gan-Or Z, Nalls MA, Singleton AB, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Krohn L, et al. Among authors: singleton ab. Neurobiol Aging. 2020 Jul;91:168.e1-168.e5. doi: 10.1016/j.neurobiolaging.2020.03.003. Epub 2020 Mar 10. Neurobiol Aging. 2020. PMID: 32249012 Free PMC article.
The Parkinson's Disease Genome-Wide Association Study Locus Browser.
Grenn FP, Kim JJ, Makarious MB, Iwaki H, Illarionova A, Brolin K, Kluss JH, Schumacher-Schuh AF, Leonard H, Faghri F, Billingsley K, Krohn L, Hall A, Diez-Fairen M, Periñán MT, Foo JN, Sandor C, Webber C, Fiske BK, Gibbs JR, Nalls MA, Singleton AB, Bandres-Ciga S, Reed X, Blauwendraat C; International Parkinson's Disease Genomics Consortium (IPDGC). Grenn FP, et al. Among authors: singleton ab. Mov Disord. 2020 Nov;35(11):2056-2067. doi: 10.1002/mds.28197. Epub 2020 Aug 31. Mov Disord. 2020. PMID: 32864809 Free PMC article.
A population scale analysis of rare SNCA variation in the UK Biobank.
Blauwendraat C, Makarious MB, Leonard HL, Bandres-Ciga S, Iwaki H, Nalls MA, Noyce AJ, Singleton AB. Blauwendraat C, et al. Among authors: singleton ab. Neurobiol Dis. 2021 Jan;148:105182. doi: 10.1016/j.nbd.2020.105182. Epub 2020 Dec 8. Neurobiol Dis. 2021. PMID: 33307186 Free PMC article.
424 results