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Page 1
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, W… See abstract for full author list ➔ Holstege H, et al. Among authors: cochran jn. 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.
PEA15 loss of function and defective cerebral development in the domestic cat.
Graff EC, Cochran JN, Kaelin CB, Day K, Gray-Edwards HL, Watanabe R, Koehler JW, Falgoust RA, Prokop JW, Myers RM, Cox NR, Barsh GS, Martin DR; 99 Lives Consortium. Graff EC, et al. Among authors: cochran jn. PLoS Genet. 2020 Dec 8;16(12):e1008671. doi: 10.1371/journal.pgen.1008671. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33290415 Free PMC article.
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Cochran JN, Acosta-Uribe J, Esposito BT, Madrigal L, Aguillón D, Giraldo MM, Taylor JW, Bradley J, Fulton-Howard B, Andrews SJ, Acosta-Baena N, Alzate D, Garcia GP, Piedrahita F, Lopez HE, Anderson AG, Rodriguez-Nunez I, Roberts K, Dominantly Inherited Alzheimer Network, Absher D, Myers RM, Beecham GW, Reitz C, Rizzardi LF, Fernandez MV, Goate AM, Cruchaga C, Renton AE, Lopera F, Kosik KS. Cochran JN, et al. Alzheimers Dement. 2023 Sep;19(9):3835-3847. doi: 10.1002/alz.13021. Epub 2023 Mar 23. Alzheimers Dement. 2023. PMID: 36951251
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN. Wright CA, et al. Among authors: cochran jn. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006271. doi: 10.1101/mcs.a006271. Print 2023 Jun. Cold Spring Harb Mol Case Stud. 2023. PMID: 37308299 Free PMC article.
Development of small-molecule Tau-SH3 interaction inhibitors that prevent amyloid-β toxicity and network hyperexcitability.
Roth JR, Rush T, Thompson SJ, Aldaher AR, Dunn TB, Mesina JS, Cochran JN, Boyle NR, Dean HB, Yang Z, Pathak V, Ruiz P, Wu M, Day JJ, Bostwick JR, Suto MJ, Augelli-Szafran CE, Roberson ED. Roth JR, et al. Among authors: cochran jn. Neurotherapeutics. 2024 Jan;21(1):e00291. doi: 10.1016/j.neurot.2023.10.001. Epub 2023 Dec 19. Neurotherapeutics. 2024. PMID: 38241154 Free PMC article.
Neuronal MAPT expression is mediated by long-range interactions with cis-regulatory elements.
Rogers BB, Anderson AG, Lauzon SN, Davis MN, Hauser RM, Roberts SC, Rodriguez-Nunez I, Trausch-Lowther K, Barinaga EA, Hall PI, Knuesel MT, Taylor JW, Mackiewicz M, Roberts BS, Cooper SJ, Rizzardi LF, Myers RM, Cochran JN. Rogers BB, et al. Among authors: cochran jn. Am J Hum Genet. 2024 Feb 1;111(2):259-279. doi: 10.1016/j.ajhg.2023.12.015. Epub 2024 Jan 16. Am J Hum Genet. 2024. PMID: 38232730
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. Among authors: cochran jn. Res Sq [Preprint]. 2023 Oct 19:rs.3.rs-3462973. doi: 10.21203/rs.3.rs-3462973/v1. Res Sq. 2023. PMID: 37886540 Free PMC article. Preprint.
Early-onset Alzheimer's disease explained by polygenic risk of late-onset disease?
Mantyh WG, Cochran JN, Taylor JW, Broce IJ, Geier EG, Bonham LW, Anderson AG, Sirkis DW, Joie R, Iaccarino L, Chaudhary K, Edwards L, Strom A, Grant H, Allen IE, Miller ZA, Gorno-Tempini ML, Kramer JH, Miller BL, Desikan RS, Rabinovici GD, Yokoyama JS. Mantyh WG, et al. Among authors: cochran jn. Alzheimers Dement (Amst). 2023 Sep 28;15(4):e12482. doi: 10.1002/dad2.12482. eCollection 2023 Oct-Dec. Alzheimers Dement (Amst). 2023. PMID: 37780862 Free PMC article.
35 results