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Page 1
Replication study of AD-associated rare variants.
Neupane A, Lenny B, Budde JP, Wang F, Norton J, Morris JC; NIA-LOAD family study group, NCRAD, the ADSP project; Cruchaga C, Fernández MV. Neupane A, et al. Alzheimers Dement. 2022 Apr;18(4):858-862. doi: 10.1002/alz.12583. Epub 2022 Feb 1. Alzheimers Dement. 2022. PMID: 35103389 Free PMC article. No abstract available.
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome.
Gorijala P, Aslam MM, Dang LT, Xicota L, Fernandez MV, Sung YJ, Fan KH, Feingold E, Surace EI, Chhatwal JP, Hom CL; Dominantly Inherited Alzheimer Network (DIAN), the Alzheimer's Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study, for the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS) Investigators; Hartley SL, Hassenstab J, Perrin RJ, Mapstone M, Zaman SH, Ances BM, Kamboh MI, Lee JH, Cruchaga C. Gorijala P, et al. Alzheimers Dement. 2024 Feb;20(2):1038-1049. doi: 10.1002/alz.13506. Epub 2023 Oct 19. Alzheimers Dement. 2024. PMID: 37855447 Free PMC article.
SORL1 variants across Alzheimer's disease European American cohorts.
Fernández MV, Black K, Carrell D, Saef B, Budde J, Deming Y, Howells B, Del-Aguila JL, Ma S, Bi C, Norton J, Chasse R, Morris J, Goate A, Cruchaga C; NIA-LOAD family study group, NCRAD. Fernández MV, et al. Eur J Hum Genet. 2016 Dec;24(12):1828-1830. doi: 10.1038/ejhg.2016.122. Epub 2016 Sep 21. Eur J Hum Genet. 2016. PMID: 27650968 Free PMC article.
Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.
Fernández MV, Kim JH, Budde JP, Black K, Medvedeva A, Saef B, Deming Y, Del-Aguila J, Ibañez L, Dube U, Harari O, Norton J, Chasse R, Morris JC, Goate A; NIA-LOAD family study group; NCRAD; Cruchaga C. Fernández MV, et al. PLoS Genet. 2017 Nov 1;13(11):e1007045. doi: 10.1371/journal.pgen.1007045. eCollection 2017 Nov. PLoS Genet. 2017. PMID: 29091718 Free PMC article.
Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms.
Cruchaga C, Del-Aguila JL, Saef B, Black K, Fernandez MV, Budde J, Ibanez L, Deming Y, Kapoor M, Tosto G, Mayeux RP, Holtzman DM, Fagan AM, Morris JC, Bateman RJ, Goate AM; Dominantly Inherited Alzheimer Network (DIAN); Disease Neuroimaging Initiative (ADNI); NIA-LOAD family study; Harari O. Cruchaga C, et al. Alzheimers Dement. 2018 Feb;14(2):205-214. doi: 10.1016/j.jalz.2017.08.013. Epub 2017 Sep 21. Alzheimers Dement. 2018. PMID: 28943286 Free PMC article.
Rarity of the Alzheimer disease-protective APP A673T variant in the United States.
Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E; Alzheimer's Disease Genetics Consortium; Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD; National Institute on Aging-Late-Onset Alzheimer’s Disease (NIA-LOAD) Family Study; Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada M, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvi… See abstract for full author list ➔ Wang LS, et al. JAMA Neurol. 2015 Feb;72(2):209-16. doi: 10.1001/jamaneurol.2014.2157. JAMA Neurol. 2015. PMID: 25531812 Free PMC article.