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Year Number of Results
2016 3
2017 6
2018 12
2019 42
2020 39
2021 38
2022 8
2023 3
2024 0

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135 results

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Page 1
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.
Aβ efflux impairment and inflammation linked to cerebrovascular accumulation of amyloid-forming amylin secreted from pancreas.
Verma N, Velmurugan GV, Winford E, Coburn H, Kotiya D, Leibold N, Radulescu L, Despa S, Chen KC, Van Eldik LJ, Nelson PT, Wilcock DM, Jicha GA, Stowe AM, Goldstein LB, Powel DK, Walton JH, Navedo MF, Nystoriak MA, Murray AJ, Biessels GJ, Troakes C, Zetterberg H, Hardy J, Lashley T, Despa F. Verma N, et al. Commun Biol. 2023 Jan 3;6(1):2. doi: 10.1038/s42003-022-04398-2. Commun Biol. 2023. PMID: 36596993 Free PMC article.
PhenoExam: gene set analyses through integration of different phenotype databases.
Cisterna A, González-Vidal A, Ruiz D, Ortiz J, Gómez-Pascual A, Chen Z, Nalls M, Faghri F, Hardy J, Díez I, Maietta P, Álvarez S, Ryten M, Botía JA. Cisterna A, et al. BMC Bioinformatics. 2022 Dec 31;23(1):567. doi: 10.1186/s12859-022-05122-x. BMC Bioinformatics. 2022. PMID: 36587217 Free PMC article.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleó A, Luckcuck L, Mannens MMAM, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams… See abstract for full author list ➔ Holstege H, et al. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Association between the LRP1B and APOE loci and the development of Parkinson's disease dementia.
Real R, Martinez-Carrasco A, Reynolds RH, Lawton MA, Tan MMX, Shoai M, Corvol JC, Ryten M, Bresner C, Hubbard L, Brice A, Lesage S, Faouzi J, Elbaz A, Artaud F, Williams N, Hu MTM, Ben-Shlomo Y, Grosset DG, Hardy J, Morris HR. Real R, et al. Brain. 2023 May 2;146(5):1873-1887. doi: 10.1093/brain/awac414. Brain. 2023. PMID: 36348503 Free PMC article.
Cytosolic sequestration of spatacsin by Protein Kinase A and 14-3-3 proteins.
Cogo S, Tomkins JE, Vavouraki N, Giusti V, Forcellato F, Franchin C, Tessari I, Arrigoni G, Cendron L, Manzoni C, Civiero L, Lewis PA, Greggio E. Cogo S, et al. Neurobiol Dis. 2022 Nov;174:105858. doi: 10.1016/j.nbd.2022.105858. Epub 2022 Sep 9. Neurobiol Dis. 2022. PMID: 36096339 Free article.
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Soutar MPM, Melandri D, O'Callaghan B, Annuario E, Monaghan AE, Welsh NJ, D'Sa K, Guelfi S, Zhang D, Pittman A, Trabzuni D, Verboven AHA, Pan KS, Kia DA, Bictash M, Gandhi S, Houlden H, Cookson MR, Kasri NN, Wood NW, Singleton AB, Hardy J, Whiting PJ, Blauwendraat C, Whitworth AJ, Manzoni C, Ryten M, Lewis PA, Plun-Favreau H. Soutar MPM, et al. Brain. 2022 Dec 19;145(12):4349-4367. doi: 10.1093/brain/awac325. Brain. 2022. PMID: 36074904 Free PMC article.
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Billingsley KJ, Alvarez Jerez P, Grenn FP, Bandres-Ciga S, Malik L, Hernandez D, Torkamani A, Ryten M, Hardy J; United Kingdom Brain Expression Consortium (UKBEC); Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Ding J, Gibbs JR, Blauwendraat C, Singleton AB. Billingsley KJ, et al. Mov Disord. 2022 Oct;37(10):2161-2162. doi: 10.1002/mds.29155. Epub 2022 Jul 22. Mov Disord. 2022. PMID: 35866887 No abstract available.
Dissecting the limited genetic overlap of Parkinson's and Alzheimer's disease.
Stolp Andersen M, Tan M, Holtman IR, Hardy J; International Parkinson's Disease Genomics Consortium; Pihlstrøm L. Stolp Andersen M, et al. Ann Clin Transl Neurol. 2022 Aug;9(8):1289-1295. doi: 10.1002/acn3.51606. Epub 2022 Jun 9. Ann Clin Transl Neurol. 2022. PMID: 35684951 Free PMC article.
135 results