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Page 1
A 3'UTR Insertion Is a Candidate Causal Variant at the TMEM106B Locus Associated with Increased Risk for FTLD-TDP.
Chemparathy A, Guen YL, Zeng Y, Gorzynski J, Jensen T, Yang C, Kasireddy N, Talozzi L, Belloy ME, Stewart I, Gitler AD, Wagner AD, Mormino E, Henderson VW, Wyss-Coray T, Ashley E, Cruchaga C, Greicius MD. Chemparathy A, et al. Among authors: cruchaga c. medRxiv [Preprint]. 2023 Nov 17:2023.07.06.23292312. doi: 10.1101/2023.07.06.23292312. medRxiv. 2023. PMID: 37461476 Free PMC article. Preprint.
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. Li Z, et al. Among authors: cruchaga c. Acta Neuropathol. 2020 Jan;139(1):45-61. doi: 10.1007/s00401-019-02066-0. Epub 2019 Aug 27. Acta Neuropathol. 2020. PMID: 31456032 Free PMC article.
Multi-ancestry genetic study in 5,876 patients identifies an association between excitotoxic genes and early outcomes after acute ischemic stroke.
Ibanez L, Heitsch L, Carrera C, Farias FHG, Dhar R, Budde J, Bergmann K, Bradley J, Harari O, Phuah CL, Lemmens R, Souza AAVO, Moniche F, Cabezas-Juan A, Arenillas JF, Krupinksi J, Cullell N, Torres-Aguila N, Muiño E, Cárcel-Márquez J, Marti-Fabregas J, Delgado-Mederos R, Marin-Bueno R, Hornick A, Vives-Bauza C, Navarro RD, Tur S, Jimenez C, Obach V, Segura T, Serrano-Heras G, Chung JW, Roquer J, Soriano-Tarraga C, Giralt-Steinhauer E, Mola-Caminal M, Pera J, Lapicka-Bodzioch K, Derbisz J, Davalos A, Lopez-Cancio E, Muñoz L, Tatlisumak T, Molina C, Ribo M, Bustamante A, Sobrino T, Castillo-Sanchez J, Campos F, Rodriguez-Castro E, Arias-Rivas S, Rodríguez-Yáñez M, Herbosa C, Ford AL, Arauz A, Lopes-Cendes I, Lowenkopf T, Barboza MA, Amini H, Stamova B, Ander BP, Sharp FR, Kim GM, Bang OY, Jimenez-Conde J, Slowik A, Stribian D, Tsai EA, Burkly LC, Montaner J, Fernandez-Cadenas I, Lee JM, Cruchaga C. Ibanez L, et al. Among authors: cruchaga c. medRxiv [Preprint]. 2020 Nov 3:2020.10.29.20222257. doi: 10.1101/2020.10.29.20222257. medRxiv. 2020. PMID: 33173895 Free PMC article. Updated. Preprint.
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: cruchaga c. 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.
Novel CYP1B1-RMDN2 Alzheimer's disease locus identified by genome-wide association analysis of cerebral tau deposition on PET.
Nho K, Risacher SL, Apostolova L, Bice PJ, Brosch J, Deardorff R, Faber K, Farlow MR, Foroud T, Gao S, Rosewood T, Kim JP, Nudelman K, Yu M, Aisen P, Sperling R, Hooli B, Shcherbinin S, Svaldi D, Jack CR, Jagust WJ, Landau S, Vasanthakumar A, Waring JF, Doré V, Laws SM, Masters CL, Porter T, Rowe CC, Villemagne VL, Dumitrescu L, Hohman TJ, Libby JB, Mormino E, Buckley RF, Johnson K, Yang HS, Petersen RC, Ramanan VK, Vemuri P, Cohen AD, Fan KH, Kamboh MI, Lopez OL, Bennett DA, Ali M, Benzinger T, Cruchaga C, Hobbs D, De Jager PL, Fujita M, Jadhav V, Lamb BT, Tsai AP, Castanho I, Mill J, Weiner MW; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer’s Disease Neuroimaging Initiative – Department of Defense; Anti-Amyloid Treatment in Asymptomatic Alzheimer’s Study (A4 Study); Australian Imaging, Biomarker & Lifestyle Study (AIBL); Saykin AJ. Nho K, et al. Among authors: cruchaga c. medRxiv [Preprint]. 2023 Mar 22:2023.02.27.23286048. doi: 10.1101/2023.02.27.23286048. medRxiv. 2023. PMID: 36993271 Free PMC article. Preprint.
Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease.
Ali M, Archer DB, Gorijala P, Western D, Timsina J, Fernández MV, Wang TC, Satizabal CL, Yang Q, Beiser AS, Wang R, Chen G, Gordon B, Benzinger TLS, Xiong C, Morris JC, Bateman RJ, Karch CM, McDade E, Goate A, Seshadri S, Mayeux RP, Sperling RA, Buckley RF, Johnson KA, Won HH, Jung SH, Kim HR, Seo SW, Kim HJ, Mormino E, Laws SM, Fan KH, Kamboh MI, Vemuri P, Ramanan VK, Yang HS, Wenzel A, Rajula HSR, Mishra A, Dufouil C, Debette S, Lopez OL, DeKosky ST, Tao F, Nagle MW; Knight Alzheimer Disease Research Center (Knight ADRC); Dominantly Inherited Alzheimer Network (DIAN); Alzheimer’s Disease Neuroimaging Initiative (ADNI); ADNI-DOD, A4 Study Team; Australian Imaging Biomarkers, Lifestyle (AIBL) Study; Hohman TJ, Sung YJ, Dumitrescu L, Cruchaga C. Ali M, et al. Among authors: cruchaga c. Acta Neuropathol Commun. 2023 Apr 26;11(1):68. doi: 10.1186/s40478-023-01563-4. Acta Neuropathol Commun. 2023. PMID: 37101235 Free PMC article.
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and informs causal proteins for Alzheimer's disease.
Cruchaga C, Western D, Timsina J, Wang L, Wang C, Yang C, Ali M, Beric A, Gorijala P, Kohlfeld P, Budde J, Levey A, Morris J, Perrin R, Ruiz A, Marquié M, Boada M, de Rojas I, Rutledge J, Oh H, Wilson E, Guen YL, Alvarez I, Aguilar M, Greicius M, Pastor P, Pulford D, Ibanez L, Wyss-Coray T, Sung YJ, Phillips B. Cruchaga C, et al. Res Sq [Preprint]. 2023 Jun 9:rs.3.rs-2814616. doi: 10.21203/rs.3.rs-2814616/v1. Res Sq. 2023. PMID: 37333337 Free PMC article. Preprint.
Proteomics of brain, CSF, and plasma identifies molecular signatures for distinguishing sporadic and genetic Alzheimer's disease.
Sung YJ, Yang C, Norton J, Johnson M, Fagan A, Bateman RJ, Perrin RJ, Morris JC, Farlow MR, Chhatwal JP, Schofield PR, Chui H, Wang F, Novotny B, Eteleeb A, Karch C, Schindler SE, Rhinn H, Johnson ECB, Oh HS, Rutledge JE, Dammer EB, Seyfried NT, Wyss-Coray T, Harari O, Cruchaga C. Sung YJ, et al. Among authors: cruchaga c. Sci Transl Med. 2023 Jul 5;15(703):eabq5923. doi: 10.1126/scitranslmed.abq5923. Epub 2023 Jul 5. Sci Transl Med. 2023. PMID: 37406134 Free PMC article.
Proteome wide association studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson's disease.
Phillips B, Western D, Wang L, Timsina J, Sun Y, Gorijala P, Yang C, Do A, Nykänen NP, Alvarez I, Aguilar M, Pastor P, Morris JC, Schindler SE, Fagan AM, Puerta R, García-González P, de Rojas I, Marquié M, Boada M, Ruiz A, Perlmutter JS; Dominantly Inherited Alzheimer Network (DIAN) Consortia; Ibanez L, Perrin RJ, Sung YJ, Cruchaga C. Phillips B, et al. Among authors: cruchaga c. NPJ Parkinsons Dis. 2023 Jul 8;9(1):107. doi: 10.1038/s41531-023-00555-4. NPJ Parkinsons Dis. 2023. PMID: 37422510 Free PMC article.
396 results