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Page 1
Challenges in the diagnosis of Parkinson's disease.
Tolosa E, Garrido A, Scholz SW, Poewe W. Tolosa E, et al. Lancet Neurol. 2021 May;20(5):385-397. doi: 10.1016/S1474-4422(21)00030-2. Lancet Neurol. 2021. PMID: 33894193 Free PMC article. Review.
Multi-ancestry meta-analysis and fine-mapping in Alzheimer's disease.
Lake J, Warly Solsberg C, Kim JJ, Acosta-Uribe J, Makarious MB, Li Z, Levine K, Heutink P, Alvarado CX, Vitale D, Kang S, Gim J, Lee KH, Pina-Escudero SD, Ferrucci L, Singleton AB, Blauwendraat C, Nalls MA, Yokoyama JS, Leonard HL. Lake J, et al. Mol Psychiatry. 2023 Jul;28(7):3121-3132. doi: 10.1038/s41380-023-02089-w. Epub 2023 May 18. Mol Psychiatry. 2023. PMID: 37198259 Free PMC article.
Large-scale rare variant burden testing in Parkinson's disease.
Makarious MB, Lake J, Pitz V, Ye Fu A, Guidubaldi JL, Solsberg CW, Bandres-Ciga S, Leonard HL, Kim JJ, Billingsley KJ, Grenn FP, Jerez PA, Alvarado CX, Iwaki H, Ta M, Vitale D, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC),; Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Real R, Morris HR, Ding J, Gibbs JR, Singleton AB, Nalls MA, Bhangale T, Blauwendraat C. Makarious MB, et al. Brain. 2023 Nov 2;146(11):4622-4632. doi: 10.1093/brain/awad214. Brain. 2023. PMID: 37348876 Free PMC article.
Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture.
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Krüger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E; American Genome Center; Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodríguez-Rodríguez E, Infante J, Lage C, González-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, … See abstract for full author list ➔ Chia R, et al. Nat Genet. 2021 Mar;53(3):294-303. doi: 10.1038/s41588-021-00785-3. Epub 2021 Feb 15. Nat Genet. 2021. PMID: 33589841 Free PMC article.
A Double-Blind, Randomized, Placebo-Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease.
Payne T, Appleby M, Buckley E, van Gelder LMA, Mullish BH, Sassani M, Dunning MJ, Hernandez D, Scholz SW, McNeill A, Libri V, Moll S, Marchesi JR, Taylor R, Su L, Mazzà C, Jenkins TM, Foltynie T, Bandmann O. Payne T, et al. Mov Disord. 2023 Aug;38(8):1493-1502. doi: 10.1002/mds.29450. Epub 2023 May 29. Mov Disord. 2023. PMID: 37246815 Free PMC article. Clinical Trial.
Genome-wide association study using whole-genome sequencing identifies risk loci for Parkinson's disease in Chinese population.
Pan H, Liu Z, Ma J, Li Y, Zhao Y, Zhou X, Xiang Y, Wang Y, Zhou X, He R, Xie Y, Zhou Q, Yuan K, Xu Q, Sun Q, Wang J, Yan X, Zhang H, Wang C, Lei L, Liu W, Wang X, Ding X, Wang T, Xue Z, Zhang Z, Chen L, Wang Q, Liu Y, Tang J, Zhang X, Peng S, Wang C, Ding J, Liu C, Wang L, Chen H, Shen L, Jiang H, Wu X, Tan H, Luo D, Xiao S, Chen X, Tan J, Hu Z, Chen C, Xia K, Zhang Z, Foo JN, Blauwendraat C, Nalls MA, Singleton AB, Liu J, Chan P, Zheng H, Li J, Guo J, Yang J, Tang B; Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC). Pan H, et al. NPJ Parkinsons Dis. 2023 Feb 9;9(1):22. doi: 10.1038/s41531-023-00456-6. NPJ Parkinsons Dis. 2023. PMID: 36759515 Free PMC article.
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018 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. Brain. 2020 Jan 1;143(1):234-248. doi: 10.1093/brain/awz350. Brain. 2020. PMID: 31755958 Free PMC article.
93 results