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Neuronal VCP loss of function recapitulates FTLD-TDP pathology.
Wani A, Zhu J, Ulrich JD, Eteleeb A, Sauerbeck AD, Reitz SJ, Arhzaouy K, Ikenaga C, Yuede CM, Pittman SK, Wang F, Li S, Benitez BA, Cruchaga C, Kummer TT, Harari O, Chou TF, Schröder R, Clemen CS, Weihl CC. Wani A, et al. Among authors: cruchaga c. Cell Rep. 2021 Jul 20;36(3):109399. doi: 10.1016/j.celrep.2021.109399. Cell Rep. 2021. PMID: 34289347 Free PMC article.
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A; Ibero-American Alzheimer Disease Genetics Group Researchers; Cruchaga C. Jin SC, et al. Among authors: cruchaga c. Alzheimers Res Ther. 2012 Aug 20;4(4):34. doi: 10.1186/alzrt137. Alzheimers Res Ther. 2012. PMID: 22906081 Free PMC article.
Parkinson disease is not associated with C9ORF72 repeat expansions.
Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C. Harms MB, et al. Among authors: cruchaga c. Neurobiol Aging. 2013 May;34(5):1519.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.001. Epub 2012 Oct 30. Neurobiol Aging. 2013. PMID: 23116878 Free PMC article.
TREM2 is associated with the risk of Alzheimer's disease in Spanish population.
Benitez BA, Cooper B, Pastor P, Jin SC, Lorenzo E, Cervantes S, Cruchaga C. Benitez BA, et al. Among authors: cruchaga c. Neurobiol Aging. 2013 Jun;34(6):1711.e15-7. doi: 10.1016/j.neurobiolaging.2012.12.018. Epub 2013 Feb 5. Neurobiol Aging. 2013. PMID: 23391427 Free PMC article.
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC); Goate AM. Cruchaga C, et al. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. Neuron. 2013. PMID: 23562540 Free PMC article.
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.
Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer's Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer's Disease Consortium GERAD; Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. Benitez BA, et al. Among authors: cruchaga c. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22. PLoS Genet. 2013. PMID: 23990795 Free PMC article.
Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid.
Harari O, Cruchaga C, Kauwe JS, Ainscough BJ, Bales K, Pickering EH, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, Goate AM; Alzheimer’s Disease Neuroimaging Initiative. Harari O, et al. Among authors: cruchaga c. Biol Psychiatry. 2014 May 1;75(9):723-31. doi: 10.1016/j.biopsych.2013.11.032. Epub 2014 Jan 19. Biol Psychiatry. 2014. PMID: 24548642 Free PMC article.
Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease.
Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbé C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA. Shannon B, et al. Among authors: cruchaga c. Neurobiol Aging. 2014 Aug;35(8):1958.e1-2. doi: 10.1016/j.neurobiolaging.2014.03.004. Epub 2014 Mar 5. Neurobiol Aging. 2014. PMID: 24684791 Free PMC article.
400 results