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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.
p53 is a central regulator driving neurodegeneration caused by C9orf72 poly(PR).
Maor-Nof M, Shipony Z, Lopez-Gonzalez R, Nakayama L, Zhang YJ, Couthouis J, Blum JA, Castruita PA, Linares GR, Ruan K, Ramaswami G, Simon DJ, Nof A, Santana M, Han K, Sinnott-Armstrong N, Bassik MC, Geschwind DH, Tessier-Lavigne M, Attardi LD, Lloyd TE, Ichida JK, Gao FB, Greenleaf WJ, Yokoyama JS, Petrucelli L, Gitler AD. Maor-Nof M, et al. Cell. 2021 Feb 4;184(3):689-708.e20. doi: 10.1016/j.cell.2020.12.025. Epub 2021 Jan 21. Cell. 2021. PMID: 33482083 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.
An ANXA11 P93S variant dysregulates TDP-43 and causes corticobasal syndrome.
Snyder A, Ryan VH, Hawrot J, Lawton S, Ramos DM, Qi YA, Johnson K, Reed X, Johnson NL, Kollasch AW, Duffy M, VandeVrede L, Cochran JN, Miller BL, Toro C, Bielekova B, Yokoyama JS, Marks DS, Kwan JY, Cookson MR, Ward ME. Snyder A, et al. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. Update in: Alzheimers Dement. 2024 Aug;20(8):5220-5235. doi: 10.1002/alz.13915. PMID: 37886540 Free PMC article. Updated. Preprint.
The Multi-Partner Consortium to Expand Dementia Research in Latin America (ReDLat): Driving Multicentric Research and Implementation Science.
Ibanez A, Yokoyama JS, Possin KL, Matallana D, Lopera F, Nitrini R, Takada LT, Custodio N, Sosa Ortiz AL, Avila-Funes JA, Behrens MI, Slachevsky A, Myers RM, Cochran JN, Brusco LI, Bruno MA, Brucki SMD, Pina-Escudero SD, Okada de Oliveira M, Donnelly Kehoe P, Garcia AM, Cardona JF, Santamaria-Garcia H, Moguilner S, Duran-Aniotz C, Tagliazucchi E, Maito M, Longoria Ibarrola EM, Pintado-Caipa M, Godoy ME, Bakman V, Javandel S, Kosik KS, Valcour V, Miller BL. Ibanez A, et al. Front Neurol. 2021 Mar 11;12:631722. doi: 10.3389/fneur.2021.631722. eCollection 2021. Front Neurol. 2021. PMID: 33776890 Free PMC article. Review.
34 results