Carlos Cruchaga - Publications

Affiliations: 
Washington University School of Medicine, St. Louis, MO, United States 
Area:
Alzheimer's, genetics, genomics, quantitative traits, WES, WGS, proteomics

144 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any innacuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, ... ... Cruchaga C, et al. Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nature Genetics. PMID 31160810 DOI: 10.1038/s41588-019-0449-0  1
2019 Thirunavu V, McCullough A, Su Y, Flores S, Dincer A, Morris JC, Cruchaga C, Benzinger TLS, Gordon BA. Higher Body Mass Index Is Associated with Lower Cortical Amyloid-β Burden in Cognitively Normal Individuals in Late-Life. Journal of Alzheimer's Disease : Jad. PMID 31156169 DOI: 10.3233/JAD-190154  1
2019 Ibanez L, Heitsch L, Dube U, Farias FHG, Budde J, Bergmann K, Davenport R, Bradley J, Carrera C, Kinnunen J, Sallinen H, Strbian D, Slowik A, Fernandez-Cadenas I, Montaner J, ... ... Cruchaga C, et al. Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors. Stroke. STROKEAHA118023097. PMID 31084338 DOI: 10.1161/STROKEAHA.118.023097  1
2019 Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C. TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers. Molecular Neurodegeneration. 14: 18. PMID 31068200 DOI: 10.1186/s13024-019-0319-3  1
2019 Wang Q, Wang Y, Liu J, Sutphen CL, Cruchaga C, Blazey T, Gordon BA, Su Y, Chen C, Shimony JS, Ances BM, Cairns NJ, Fagan AM, Morris JC, Benzinger TLS. Quantification of white matter cellularity and damage in preclinical and early symptomatic Alzheimer's disease. Neuroimage. Clinical. 22: 101767. PMID 30901713 DOI: 10.1016/j.nicl.2019.101767  1
2019 Schindler SE, Li Y, Todd KW, Herries EM, Henson RL, Gray JD, Wang G, Graham DL, Shaw LM, Trojanowski JQ, Hassenstab JJ, Benzinger TLS, Cruchaga C, Jucker M, Levin J, et al. Emerging cerebrospinal fluid biomarkers in autosomal dominant Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 30846386 DOI: 10.1016/j.jalz.2018.12.019  1
2019 Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, ... ... Cruchaga C, et al. Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nature Genetics. 51: 414-430. PMID 30820047 DOI: 10.1038/s41588-019-0358-2  1
2019 Pottier C, Ren Y, Perkerson RB, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, ... ... Cruchaga C, et al. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathologica. PMID 30739198 DOI: 10.1007/s00401-019-01962-9  1
2019 Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Schlepckow K, Caballero MÁA, Franzmeier N, Capell A, Fellerer K, Nuscher B, Eren E, Levin J, Deming Y, Piccio L, Karch CM, Cruchaga C, et al. Early increase of CSF sTREM2 in Alzheimer's disease is associated with tau related-neurodegeneration but not with amyloid-β pathology. Molecular Neurodegeneration. 14: 1. PMID 30630532 DOI: 10.1186/s13024-018-0301-5  1
2019 Morris JC, Schindler SE, McCue LM, Moulder KL, Benzinger TLS, Cruchaga C, Fagan AM, Grant E, Gordon BA, Holtzman DM, Xiong C. Assessment of Racial Disparities in Biomarkers for Alzheimer Disease. Jama Neurology. PMID 30615028 DOI: 10.1001/jamaneurol.2018.4249  1
2018 Mola-Caminal M, Carrera C, Soriano-Tárraga C, Giralt Steinhauer E, Diaz-Navarro RM, Tur S, Jiménez C, Medina-Dols A, Cullell N, Torres-Aguila NP, Muiño E, Rodri Guez-Campello A, Ois A, Cuadrado-Godia E, Vivanco-Hidalgo RM, ... ... Cruchaga C, et al. PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis. Circulation Research. PMID 30582445 DOI: 10.1161/CIRCRESAHA.118.313533  1
2018 Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ, Harari O, Cruchaga C, Karch CM. Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. Translational Psychiatry. 8: 265. PMID 30546007 DOI: 10.1038/s41398-018-0319-z  1
2018 Bussy A, Snider BJ, Coble D, Xiong C, Fagan AM, Cruchaga C, Benzinger TLS, Gordon BA, Hassenstab J, Bateman RJ, Morris JC. Effect of apolipoprotein E4 on clinical, neuroimaging, and biomarker measures in noncarrier participants in the Dominantly Inherited Alzheimer Network. Neurobiology of Aging. 75: 42-50. PMID 30530186 DOI: 10.1016/j.neurobiolaging.2018.10.011  1
2018 Suárez-Calvet M, Capell A, Araque Caballero MÁ, Morenas-Rodríguez E, Fellerer K, Franzmeier N, Kleinberger G, Eren E, Deming Y, Piccio L, Karch CM, Cruchaga C, Paumier K, Bateman RJ, Fagan AM, et al. CSF progranulin increases in the course of Alzheimer's disease and is associated with sTREM2, neurodegeneration and cognitive decline. Embo Molecular Medicine. PMID 30482868 DOI: 10.15252/emmm.201809712  1
2018 Joseph-Mathurin N, Su Y, Blazey TM, Jasielec M, Vlassenko A, Friedrichsen K, Gordon BA, Hornbeck RC, Cash L, Ances BM, Veale T, Cash DM, Brickman AM, Buckles V, Cairns NJ, ... Cruchaga C, et al. Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease. Alzheimer's & Dementia (Amsterdam, Netherlands). 10: 669-677. PMID 30417072 DOI: 10.1016/j.dadm.2018.08.012  1
2018 Yan Q, Nho K, Del-Aguila JL, Wang X, Risacher SL, Fan KH, Snitz BE, Aizenstein HJ, Mathis CA, Lopez OL, Demirci FY, Feingold E, Klunk WE, Saykin AJ, ... Cruchaga C, et al. Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging. Molecular Psychiatry. PMID 30361487 DOI: 10.1038/s41380-018-0246-7  1
2018 Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, et al. A missense variant in SLC39A8 is associated with severe idiopathic scoliosis. Nature Communications. 9: 4171. PMID 30301978 DOI: 10.1038/s41467-018-06705-0  1
2018 Maxwell TJ, Corcoran C, Del-Aguila JL, Budde JP, Deming Y, Cruchaga C, Goate AM, Kauwe JSK. Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels. Alzheimer's Research & Therapy. 10: 86. PMID 30153862 DOI: 10.1186/s13195-018-0410-y  1
2018 Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, ... ... Cruchaga C, et al. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Molecular Psychiatry. PMID 30108311 DOI: 10.1038/s41380-018-0112-7  1
2018 Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, et al. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimer's Research & Therapy. 10: 69. PMID 30045758 DOI: 10.1186/s13195-018-0400-0  1
2018 Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TLS, Goate AM, ... Cruchaga C, et al. Discovery and validation of autosomal dominant Alzheimer's disease mutations. Alzheimer's Research & Therapy. 10: 67. PMID 30021643 DOI: 10.1186/s13195-018-0392-9  1
2018 Lim YY, Hassenstab J, Goate A, Fagan AM, Benzinger TLS, Cruchaga C, McDade E, Chhatwal J, Levin J, Farlow MR, Graff-Radford NR, Laske C, Masters CL, Salloway S, Schofield P, et al. Effect of BDNFVal66Met on disease markers in dominantly inherited AD. Annals of Neurology. PMID 30014553 DOI: 10.1002/ana.25299  1
2018 Deming Y, Dumitrescu L, Barnes LL, Thambisetty M, Kunkle B, Gifford KA, Bush WS, Chibnik LB, Mukherjee S, De Jager PL, Kukull W, Huentelman M, Crane PK, Resnick SM, Keene CD, ... ... Cruchaga C, et al. Sex-specific genetic predictors of Alzheimer's disease biomarkers. Acta Neuropathologica. PMID 29967939 DOI: 10.1007/s00401-018-1881-4  1
2018 Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Cruchaga C, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/science.aap8757  1
2018 Deming Y, Li Z, Benitez BA, Cruchaga C. Triggering receptor expressed on myeloid cells 2 (TREM2): a potential therapeutic target for Alzheimer disease? Expert Opinion On Therapeutic Targets. PMID 29889572 DOI: 10.1080/14728222.2018.1486823  1
2018 Diez-Fairen M, Benitez BA, Ortega-Cubero S, Lorenzo-Betancor O, Cruchaga C, Lorenzo E, Samaranch L, Carcel M, Obeso JA, Rodriguez-Oroz MC, Aguilar M, Coria F, Pastor MA, Pastor P. Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population. Neurobiology of Aging. PMID 29887346 DOI: 10.1016/j.neurobiolaging.2018.05.008  1
2018 Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ, Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, et al. Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure. Genome Medicine. 10: 43. PMID 29880032 DOI: 10.1186/s13073-018-0551-4  1
2018 Pottier C, Zhou X, Perkerson RB, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, ... ... Cruchaga C, et al. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. The Lancet. Neurology. PMID 29724592 DOI: 10.1016/S1474-4422(18)30126-1  1
2018 Ibanez L, Dube U, Davis AA, Fernandez MV, Budde J, Cooper B, Diez-Fairen M, Ortega-Cubero S, Pastor P, Perlmutter JS, Cruchaga C, Benitez BA. Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease. Frontiers in Neuroscience. 12: 230. PMID 29692703 DOI: 10.3389/fnins.2018.00230  1
2018 Mishra S, Blazey TM, Holtzman DM, Cruchaga C, Su Y, Morris JC, Benzinger TLS, Gordon BA. Longitudinal brain imaging in preclinical Alzheimer disease: impact of APOE ɛ4 genotype. Brain : a Journal of Neurology. PMID 29672664 DOI: 10.1093/brain/awy103  1
2018 Fernández MV, Budde J, Del-Aguila JL, Ibañez L, Deming Y, Harari O, Norton J, Morris JC, Goate AM, Cruchaga C. Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease. Frontiers in Neuroscience. 12: 209. PMID 29670507 DOI: 10.3389/fnins.2018.00209  1
2018 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Bras J, Blumenau S, ... ... Cruchaga C, et al. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3. Neurobiology of Aging. PMID 29544907 DOI: 10.1016/j.neurobiolaging.2018.01.015  1
2018 Malik R, Chauhan G, Traylor M, Sargurupremraj M, Okada Y, Mishra A, Rutten-Jacobs L, Giese AK, van der Laan SW, Gretarsdottir S, Anderson CD, Chong M, Adams HHH, Ago T, Almgren P, ... ... Cruchaga C, ... ... Cruchaga C, et al. Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes. Nature Genetics. PMID 29531354 DOI: 10.1038/s41588-018-0058-3  1
2018 Blue EE, Bis JC, Dorschner MO, Tsuang DW, Barral SM, Beecham G, Below JE, Bush WS, Butkiewicz M, Cruchaga C, DeStefano A, Farrer LA, Goate A, Haines J, Jaworski J, et al. Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project. Dementia and Geriatric Cognitive Disorders. 45: 1-17. PMID 29486463 DOI: 10.1159/000485503  1
2018 Del-Aguila JL, Fernández MV, Schindler S, Ibanez L, Deming Y, Ma S, Saef B, Black K, Budde J, Norton J, Chasse R, Harari O, Goate A, Xiong C, ... ... Cruchaga C, et al. Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline. Journal of Alzheimer's Disease : Jad. 62: 745-756. PMID 29480181 DOI: 10.3233/JAD-170834  1
2018 Rao S, Ghani M, Guo Z, Deming Y, Wang K, Sims R, Mao C, Yao Y, Cruchaga C, Stephan DA, Rogaeva E. An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk. Neurobiology of Aging. PMID 29395286 DOI: 10.1016/j.neurobiolaging.2017.12.027  1
2018 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Murcia JDG, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... ... Cruchaga C, et al. Correction to: Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 10: 4. PMID 29329552 DOI: 10.1186/s13073-018-0516-7  1
2017 Ridge PG, Karch CM, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, ... ... Cruchaga C, et al. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience. Genome Medicine. 9: 100. PMID 29183403 DOI: 10.1186/s13073-017-0486-1  1
2017 Ibanez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, Del-Aguila JL, Davis AA, Perlmutter JS, Harari O, Benitez BA, Cruchaga C. Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. Bmc Neurology. 17: 198. PMID 29141588 DOI: 10.1186/s12883-017-0978-z  1
2017 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, ... ... Cruchaga C, et al. Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease. Plos Genetics. 13: e1007045. PMID 29091718 DOI: 10.1371/journal.pgen.1007045  1
2017 Rehker J, Rodhe J, Nesbitt RR, Boyle EA, Martin BK, Lord J, Karaca I, Naj A, Jessen F, Helisalmi S, Soininen H, Hiltunen M, Ramirez A, Scherer M, Farrer LA, ... ... Cruchaga C, et al. Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. Plos One. 12: e0185777. PMID 28985224 DOI: 10.1371/journal.pone.0185777  1
2017 Shi Y, Yamada K, Liddelow SA, Smith ST, Zhao L, Luo W, Tsai RM, Spina S, Grinberg LT, Rojas JC, Gallardo G, Wang K, Roh J, Robinson G, Finn MB, ... ... Cruchaga C, et al. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature. 549: 523-527. PMID 28959956 DOI: 10.1038/nature24016  1
2017 Cruchaga C, Del-Aguila JL, Saef B, Black K, Fernandez MV, Budde J, Ibanez L, Kapoor M, Tosto G, Mayeux RP, Holtzman DM, Fagan AM, Morris JC, Bateman RJ, Goate AM, et al. Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 28943286 DOI: 10.1016/j.jalz.2017.08.013  1
2017 Sims R, van der Lee SJ, Naj AC, Bellenguez C, Badarinarayan N, Jakobsdottir J, Kunkle BW, Boland A, Raybould R, Bis JC, Martin ER, Grenier-Boley B, Heilmann-Heimbach S, Chouraki V, Kuzma AB, ... ... Cruchaga C, et al. Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. Nature Genetics. PMID 28714976 DOI: 10.1038/ng.3916  1
2017 Huang KL, Marcora E, Pimenova AA, Di Narzo AF, Kapoor M, Jin SC, Harari O, Bertelsen S, Fairfax BP, Czajkowski J, Chouraki V, Grenier-Boley B, Bellenguez C, Deming Y, McKenzie A, ... ... Cruchaga C, et al. A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease. Nature Neuroscience. PMID 28628103 DOI: 10.1038/nn.4587  1
2017 Ibanez L, Dube U, Budde J, Black K, Medvedeva A, Davis AA, Perlmutter JS, Benitez BA, Cruchaga C. TMEM230 in Parkinson's disease. Neurobiology of Aging. PMID 28457580 DOI: 10.1016/j.neurobiolaging.2017.03.014  1
2017 Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S, ... ... Cruchaga C, et al. Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. Acta Neuropathologica. PMID 28247064 DOI: 10.1007/s00401-017-1685-y  1
2017 Tosto G, Bird TD, Tsuang D, Bennett DA, Boeve BF, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Bertlesen S, Graff-Radford NR, Medrano M, Lantigua R, Manly J, et al. Polygenic risk scores in familial Alzheimer disease. Neurology. PMID 28213371 DOI: 10.1212/WNL.0000000000003734  1
2017 Fardo DW, Katsumata Y, Kauwe JS, Deming Y, Harari O, Cruchaga C, Nelson PT. CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN. Experimental Gerontology. PMID 28189700 DOI: 10.1016/j.exger.2017.01.025  1
2017 Jun GR, Chung J, Mez J, Barber R, Beecham GW, Bennett DA, Buxbaum JD, Byrd GS, Carrasquillo MM, Crane PK, Cruchaga C, De Jager P, Ertekin-Taner N, Evans D, Fallin MD, et al. Transethnic genome-wide scan identifies novel Alzheimer's disease loci. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. PMID 28183528 DOI: 10.1016/j.jalz.2016.12.012  1
2017 Haddick PC, Larson JL, Rathore N, Bhangale TR, Phung QT, Srinivasan K, Hansen DV, Lill JR, Pericak-Vance MA, Haines J, Farrer LA, Kauwe JS, Schellenberg GD, Cruchaga C, et al. A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains. Journal of Alzheimer's Disease : Jad. PMID 28106546 DOI: 10.3233/JAD-160524  1
2016 Kober DL, Alexander-Brett JM, Karch CM, Cruchaga C, Colonna M, Holtzman MJ, Brett TJ. Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms. Elife. 5. PMID 27995897 DOI: 10.7554/eLife.20391  1
2016 Chapuis J, Flaig A, Grenier-Boley B, Eysert F, Pottiez V, Deloison G, Vandeputte A, Ayral AM, Mendes T, Desai S, Goate AM, Kauwe JS, Leroux F, Herledan A, Demiautte F, ... ... Cruchaga C, et al. Genome-wide, high-content siRNA screening identifies the Alzheimer's genetic risk factor FERMT2 as a major modulator of APP metabolism. Acta Neuropathologica. PMID 27933404 DOI: 10.1007/s00401-016-1652-z  1
2016 Deming Y, Black K, Carrell D, Cai Y, Del-Aguila JL, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Bertelsen S, Huang KL, Sutphen CL, Tarawneh R, Fagan AM, ... ... Cruchaga C, et al. Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40. Bmc Neurology. 16: 217. PMID 27832767 DOI: 10.1186/s12883-016-0742-9  1
2016 Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, et al. TYROBP genetic variants in early-onset Alzheimer's disease. Neurobiology of Aging. PMID 27658901 DOI: 10.1016/j.neurobiolaging.2016.07.028  1
2016 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, et al. SORL1 variants across Alzheimer's disease European American cohorts. European Journal of Human Genetics : Ejhg. PMID 27650968 DOI: 10.1038/ejhg.2016.122  1
2016 Harari O, Cruchaga C. Paving the road for the study of epigenetics in neurodegenerative diseases. Acta Neuropathologica. 132: 483-5. PMID 27638634 DOI: 10.1007/s00401-016-1614-5  1
2016 Carrera C, Jiménez-Conde J, Derdak S, Rabionet K, Vives-Bauzá C, Soriano-Tárrega C, Giralt-Steinhauer E, Mola M, Diaz-Navarro RM, Tur S, Muiño E, Gallego-Fabrega C, Beltran S, Roquer J, Ruiz A, ... ... Cruchaga C, et al. Whole exome sequencing analysis reveals TRPV3 as a risk factor for cardioembolic stroke. Thrombosis and Haemostasis. 116. PMID 27604134 DOI: 10.1160/TH16-02-0113  0.04
2016 Tosto G, Bird TD, Bennett DA, Boeve BF, Brickman AM, Cruchaga C, Faber K, Foroud TM, Farlow M, Goate AM, Graff-Radford NR, Lantigua R, Manly J, Ottman R, Rosenberg R, et al. The Role of Cardiovascular Risk Factors and Stroke in Familial Alzheimer Disease. Jama Neurology. PMID 27533593 DOI: 10.1001/jamaneurol.2016.2539  1
2016 Lim YY, Hassenstab J, Cruchaga C, Goate A, Fagan AM, Benzinger TL, Maruff P, Snyder PJ, Masters CL, Allegri R, Chhatwal J, Farlow MR, Graff-Radford NR, Laske C, Levin J, et al. BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease. Brain : a Journal of Neurology. PMID 27521573 DOI: 10.1093/brain/aww200  1
2016 Day GS, Musiek ES, Roe CM, Norton J, Goate AM, Cruchaga C, Cairns NJ, Morris JC. Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study. Jama Neurology. PMID 27454811 DOI: 10.1001/jamaneurol.2016.1236  1
2016 Kang SS, Kurti A, Wojtas A, Baker KE, Liu CC, Kanekiyo T, Deming Y, Cruchaga C, Estus S, Bu G, Fryer JD. Identification of Plexin A4 as a novel Clusterin receptor links two Alzheimer's disease risk genes. Human Molecular Genetics. PMID 27378688 DOI: 10.1093/hmg/ddw188  1
2016 Sassi C, Nalls MA, Ridge PG, Gibbs JR, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Clement N, Lord J, Turton J, Bras J, ... ... Cruchaga C, et al. ABCA7 p.G215S as potential protective factor for Alzheimer's disease. Neurobiology of Aging. PMID 27289440 DOI: 10.1016/j.neurobiolaging.2016.04.004  1
2016 Scott RA, Freitag DF, Li L, Chu AY, Surendran P, Young R, Grarup N, Stancáková A, Chen Y, Varga TV, Yaghootkar H, Luan J, Zhao JH, Willems SM, Wessel J, ... ... Cruchaga C, et al. A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Science Translational Medicine. 8: 341ra76. PMID 27252175 DOI: 10.1126/scitranslmed.aad3744  1
2016 Sassi C, Ridge PG, Nalls MA, Gibbs R, Ding J, Lupton MK, Troakes C, Lunnon K, Al-Sarraj S, Brown KS, Medway C, Lord J, Turton J, Morgan K, ... ... Cruchaga C, et al. Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease. Plos One. 11: e0150079. PMID 27249223 DOI: 10.1371/journal.pone.0150079  1
2016 Benitez BA, Davis AA, Jin SC, Ibanez L, Ortega-Cubero S, Pastor P, Choi J, Cooper B, Perlmutter JS, Cruchaga C. Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease. Molecular Neurodegeneration. 11: 29. PMID 27094865 DOI: 10.1186/s13024-016-0097-0  1
2016 Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, et al. Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease. Jama Neurology. PMID 27088644 DOI: 10.1001/jamaneurol.2016.0150  1
2016 Piccio L, Deming Y, Del-Águila JL, Ghezzi L, Holtzman DM, Fagan AM, Fenoglio C, Galimberti D, Borroni B, Cruchaga C. Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status. Acta Neuropathologica. PMID 26754641 DOI: 10.1007/s00401-016-1533-5  1
2016 Jin SC, Benitez BA, Deming Y, Cruchaga C. Pooled-DNA Sequencing for Elucidating New Genomic Risk Factors, Rare Variants Underlying Alzheimer's Disease. Methods in Molecular Biology (Clifton, N.J.). 1303: 299-314. PMID 26235075 DOI: 10.1007/978-1-4939-2627-5_18  1
2015 Del-Aguila JL, Fernández MV, Jimenez J, Black K, Ma S, Deming Y, Carrell D, Saef B, Howells B, Budde J, Cruchaga C. Role of ABCA7 loss-of-function variant in Alzheimer's disease: a replication study in European-Americans. Alzheimer's Research & Therapy. 7: 73. PMID 26654793 DOI: 10.1186/s13195-015-0154-x  1
2015 Benitez BA, Cairns NJ, Schmidt RE, Morris JC, Norton JB, Cruchaga C, Sands MS. Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss. Acta Neuropathologica Communications. 3: 73. PMID 26610600 DOI: 10.1186/s40478-015-0256-5  1
2015 Davis AA, Andruska KM, Benitez BA, Racette BA, Perlmutter JS, Cruchaga C. Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression. Neurobiology of Aging. PMID 26601739 DOI: 10.1016/j.neurobiolaging.2015.09.014  1
2015 Haller G, Alvarado D, McCall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Human Molecular Genetics. PMID 26566670 DOI: 10.1093/hmg/ddv463  1
2015 Deming Y, Xia J, Cai Y, Lord J, Holmans P, Bertelsen S, Holtzman D, Morris JC, Bales K, Pickering EH, Kauwe J, Goate A, Cruchaga C. A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin. Neurobiology of Aging. PMID 26545630 DOI: 10.1016/j.neurobiolaging.2015.09.009  1
2015 Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, Majounie E, Badarinarayan N, Morgan K, Passmore P, Holmes C, Powell J, Brayne C, Gill M, ... ... Cruchaga C, et al. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain : a Journal of Neurology. PMID 26490334 DOI: 10.1093/brain/awv268  1
2015 Del-Aguila JL, Koboldt DC, Black K, Chasse R, Norton J, Wilson RK, Cruchaga C. Alzheimer's disease: rare variants with large effect sizes. Current Opinion in Genetics & Development. 33: 49-55. PMID 26311074 DOI: 10.1016/j.gde.2015.07.008  1
2015 Jin SC, Carrasquillo MM, Benitez BA, Skorupa T, Carrell D, Patel D, Lincoln S, Krishnan S, Kachadoorian M, Reitz C, Mayeux R, Wingo TS, Lah JJ, Levey AI, Murrell J, ... ... Cruchaga C, et al. TREM2 is associated with increased risk for Alzheimer's disease in African Americans. Molecular Neurodegeneration. 10: 19. PMID 25886450 DOI: 10.1186/s13024-015-0016-9  1
2015 Cruchaga C, Goate AM. Cruchaga & Goate reply. Nature. 520: E5-6. PMID 25832412 DOI: 10.1038/nature14037  1
2015 Cruchaga C, Goate AM. Cruchaga & Goate reply. Nature. 520: E10. PMID 25832409 DOI: 10.1038/nature14041  1
2015 Louwersheimer E, Ramirez A, Cruchaga C, Becker T, Kornhuber J, Peters O, Heilmann S, Wiltfang J, Jessen F, Visser PJ, Scheltens P, Pijnenburg YA, Teunissen CE, Barkhof F, van Swieten JC, et al. The influence of genetic variants in SORL1 gene on the manifestation of Alzheimer's disease. Neurobiology of Aging. 36: 1605.e13-20. PMID 25659857 DOI: 10.1016/j.neurobiolaging.2014.12.007  1
2015 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, et al. Rarity of the Alzheimer disease-protective APP A673T variant in the United States. Jama Neurology. 72: 209-16. PMID 25531812 DOI: 10.1001/jamaneurol.2014.2157  1
2014 Wetzel-Smith MK, Hunkapiller J, Bhangale TR, Srinivasan K, Maloney JA, Atwal JK, Sa SM, Yaylaoglu MB, Foreman O, Ortmann W, Rathore N, Hansen DV, Tessier-Lavigne M, Mayeux R, ... ... Cruchaga C, et al. A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death. Nature Medicine. 20: 1452-7. PMID 25419706 DOI: 10.1038/nm.3736  1
2014 Izzo NJ, Xu J, Zeng C, Kirk MJ, Mozzoni K, Silky C, Rehak C, Yurko R, Look G, Rishton G, Safferstein H, Cruchaga C, Goate A, Cahill MA, Arancio O, et al. Alzheimer's therapeutics targeting amyloid beta 1-42 oligomers II: Sigma-2/PGRMC1 receptors mediate Abeta 42 oligomer binding and synaptotoxicity. Plos One. 9: e111899. PMID 25390692 DOI: 10.1371/journal.pone.0111899  1
2014 Lord J, Lu AJ, Cruchaga C. Identification of rare variants in Alzheimer's disease. Frontiers in Genetics. 5: 369. PMID 25389433 DOI: 10.3389/fgene.2014.00369  1
2014 Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S, et al. Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation. Plos Genetics. 10: e1004758. PMID 25340798 DOI: 10.1371/journal.pgen.1004758  1
2014 Naj AC, Jun G, Reitz C, Kunkle BW, Perry W, Park YS, Beecham GW, Rajbhandary RA, Hamilton-Nelson KL, Wang LS, Kauwe JS, Huentelman MJ, Myers AJ, Bird TD, Boeve BF, ... ... Cruchaga C, et al. Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. Jama Neurology. 71: 1394-404. PMID 25199842 DOI: 10.1001/jamaneurol.2014.1491  1
2014 Lord J, Cruchaga C. The epigenetic landscape of Alzheimer's disease. Nature Neuroscience. 17: 1138-40. PMID 25157507 DOI: 10.1038/nn.3792  1
2014 Luis EO, Ortega-Cubero S, Lamet I, Razquin C, Cruchaga C, Benitez BA, Lorenzo E, Irigoyen J, Pastor MA, Pastor P. Frontobasal gray matter loss is associated with the TREM2 p.R47H variant. Neurobiology of Aging. 35: 2681-90. PMID 25027412 DOI: 10.1016/j.neurobiolaging.2014.06.007  1
2014 Ramirez A, van der Flier WM, Herold C, Ramonet D, Heilmann S, Lewczuk P, Popp J, Lacour A, Drichel D, Louwersheimer E, Kummer MP, Cruchaga C, Hoffmann P, Teunissen C, Holstege H, et al. SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Human Molecular Genetics. 23: 6644-58. PMID 25027320 DOI: 10.1093/hmg/ddu372  1
2014 Karch CM, Cruchaga C, Goate AM. Alzheimer's disease genetics: from the bench to the clinic. Neuron. 83: 11-26. PMID 24991952 DOI: 10.1016/j.neuron.2014.05.041  1
2014 Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, ... ... Cruchaga C, et al. Frontotemporal dementia and its subtypes: a genome-wide association study. The Lancet. Neurology. 13: 686-99. PMID 24943344 DOI: 10.1016/S1474-4422(14)70065-1  1
2014 Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, ... ... Cruchaga C, et al. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. Plos One. 9: e94661. PMID 24922517 DOI: 10.1371/journal.pone.0094661  1
2014 Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer's disease. Human Molecular Genetics. 23: 5838-46. PMID 24899047 DOI: 10.1093/hmg/ddu277  1
2014 Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, et al. Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. Human Molecular Genetics. 23: 5271-82. PMID 24833718 DOI: 10.1093/hmg/ddu224  1
2014 Cruchaga C, Ebbert MT, Kauwe JS. Genetic discoveries in AD using CSF amyloid and tau. Current Genetic Medicine Reports. 2: 23-29. PMID 24729949 DOI: 10.1007/s40142-014-0031-0  1
2014 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, et al. Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiology of Aging. 35: 1958.e1-2. PMID 24684791 DOI: 10.1016/j.neurobiolaging.2014.03.004  1
2014 Harari O, Cruchaga C, Kauwe JS, Ainscough BJ, Bales K, Pickering EH, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, Goate AM. Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid. Biological Psychiatry. 75: 723-31. PMID 24548642 DOI: 10.1016/j.biopsych.2013.11.032  1
2014 Cady J, Koval ED, Benitez BA, Zaidman C, Jockel-Balsarotti J, Allred P, Baloh RH, Ravits J, Simpson E, Appel SH, Pestronk A, Goate AM, Miller TM, Cruchaga C, Harms MB. TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis. Jama Neurology. 71: 449-53. PMID 24535663 DOI: 10.1001/jamaneurol.2013.6237  1
2014 Deming Y, Cruchaga C. TMEM106B: a strong FTLD disease modifier. Acta Neuropathologica. 127: 419-22. PMID 24488309 DOI: 10.1007/s00401-014-1249-3  1
2014 Benitez BA, Jin SC, Guerreiro R, Graham R, Lord J, Harold D, Sims R, Lambert JC, Gibbs JR, Bras J, Sassi C, Harari O, Bertelsen S, Lupton MK, Powell J, ... ... Cruchaga C, et al. Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging. 35: 1510.e19-26. PMID 24439484 DOI: 10.1016/j.neurobiolaging.2013.12.010  1
2014 Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, et al. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 505: 550-4. PMID 24336208 DOI: 10.1038/nature12825  1
2014 Peterson D, Munger C, Crowley J, Corcoran C, Cruchaga C, Goate AM, Norton MC, Green RC, Munger RG, Breitner JC, Welsh-Bohmer KA, Lyketsos C, Tschanz J, Kauwe JS. Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: the Cache County Dementia Progression Study. Alzheimer's & Dementia : the Journal of the Alzheimer's Association. 10: 366-71. PMID 23727081 DOI: 10.1016/j.jalz.2013.02.010  1
2013 Anasagasti A, Barandika O, Irigoyen C, Benitez BA, Cooper B, Cruchaga C, López de Munain A, Ruiz-Ederra J. Genetic highthroughput screening in retinitis pigmentosa based on high resolution melting (HRM) analysis. Experimental Eye Research. PMID 24512775 DOI: 10.1016/j.exer.2013.10.011  1
2013 Anasagasti A, Barandika O, Irigoyen C, Benitez BA, Cooper B, Cruchaga C, López de Munain A, Ruiz-Ederra J. Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis. Experimental Eye Research. 116: 386-94. PMID 24416769  1
2013 Benitez BA, Cruchaga C. TREM2 and neurodegenerative disease. The New England Journal of Medicine. 369: 1567-8. PMID 24131187 DOI: 10.1056/NEJMc1306509#SA4  1
2013 Honea RA, Cruchaga C, Perea RD, Saykin AJ, Burns JM, Weinberger DR, Goate AM. Characterizing the role of brain derived neurotrophic factor genetic variation in Alzheimer's disease neurodegeneration. Plos One. 8: e76001. PMID 24086677 DOI: 10.1371/journal.pone.0076001  1
2013 Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA, Fagan AM, Holtzman D, Morris JC, ... ... Cruchaga C, et al. The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. Plos Genetics. 9: e1003685. PMID 23990795 DOI: 10.1371/journal.pgen.1003685  1
2013 Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM. Novel progranulin variants do not disrupt progranulin secretion and cleavage. Neurobiology of Aging. 34: 2538-40. PMID 23759146 DOI: 10.1016/j.neurobiolaging.2013.05.004  1
2013 Harms MB, Cady J, Zaidman C, Cooper P, Bali T, Allred P, Cruchaga C, Baughn M, Libby RT, Pestronk A, Goate A, Ravits J, Baloh RH. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiology of Aging. 34: 2234.e13-9. PMID 23597494 DOI: 10.1016/j.neurobiolaging.2013.03.006  1
2013 Harms M, Benitez BA, Cairns N, Cooper B, Cooper P, Mayo K, Carrell D, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, Mayeux R, ... ... Cruchaga C, et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. Jama Neurology. 70: 736-41. PMID 23588422 DOI: 10.1001/2013.jamaneurol.537  1
2013 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, et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron. 78: 256-68. PMID 23562540 DOI: 10.1016/j.neuron.2013.02.026  1
2013 Benitez BA, Cooper B, Pastor P, Jin SC, Lorenzo E, Cervantes S, Cruchaga C. TREM2 is associated with the risk of Alzheimer's disease in Spanish population. Neurobiology of Aging. 34: 1711.e15-7. PMID 23391427 DOI: 10.1016/j.neurobiolaging.2012.12.018  1
2013 Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, et al. TREM2 variants in Alzheimer's disease. The New England Journal of Medicine. 368: 117-27. PMID 23150934 DOI: 10.1056/NEJMoa1211851  1
2013 Harms MB, Neumann D, Benitez BA, Cooper B, Carrell D, Racette BA, Perlmutter JS, Goate A, Cruchaga C. Parkinson disease is not associated with C9ORF72 repeat expansions. Neurobiology of Aging. 34: 1519.e1-2. PMID 23116878 DOI: 10.1016/j.neurobiolaging.2012.10.001  1
2012 Karch CM, Jeng AT, Nowotny P, Cady J, Cruchaga C, Goate AM. Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains. Plos One. 7: e50976. PMID 23226438 DOI: 10.1371/journal.pone.0050976  1
2012 Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, Razquin C, Goate A, Cruchaga C. 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. Alzheimer's Research & Therapy. 4: 34. PMID 22906081 DOI: 10.1186/alzrt137  1
2012 Greaves J, Lemonidis K, Gorleku OA, Cruchaga C, Grefen C, Chamberlain LH. Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. The Journal of Biological Chemistry. 287: 37330-9. PMID 22902780 DOI: 10.1074/jbc.M112.389098  0.01
2012 Cruchaga C, Kauwe JS, Nowotny P, Bales K, Pickering EH, Mayo K, Bertelsen S, Hinrichs A, Fagan AM, Holtzman DM, Morris JC, Goate AM. Cerebrospinal fluid APOE levels: an endophenotype for genetic studies for Alzheimer's disease. Human Molecular Genetics. 21: 4558-71. PMID 22821396 DOI: 10.1093/hmg/dds296  1
2012 Allen M, Zou F, Chai HS, Younkin CS, Crook J, Pankratz VS, Carrasquillo MM, Rowley CN, Nair AA, Middha S, Maharjan S, Nguyen T, Ma L, Malphrus KG, Palusak R, ... ... Cruchaga C, et al. Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology. 79: 221-8. PMID 22722634 DOI: 10.1212/WNL.0b013e3182605801  0.04
2012 Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, et al. Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. Plos One. 7: e31039. PMID 22312439 DOI: 10.1371/journal.pone.0031039  1
2012 Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, ... ... Cruchaga C, et al. The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 28: 377-87. PMID 22027014 DOI: 10.3233/JAD-2011-110824  1
2011 Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C. Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. Plos One. 6: e26741. PMID 22073189 DOI: 10.1371/journal.pone.0026741  1
2011 Cruchaga C, Nowotny P, Kauwe JS, Ridge PG, Mayo K, Bertelsen S, Hinrichs A, Fagan AM, Holtzman DM, Morris JC, Goate AM. Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. Archives of Neurology. 68: 1013-9. PMID 21825236 DOI: 10.1001/archneurol.2011.155  1
2011 Castellano JM, Kim J, Stewart FR, Jiang H, DeMattos RB, Patterson BW, Fagan AM, Morris JC, Mawuenyega KG, Cruchaga C, Goate AM, Bales KR, Paul SM, Bateman RJ, Holtzman DM. Human apoE isoforms differentially regulate brain amyloid-β peptide clearance. Science Translational Medicine. 3: 89ra57. PMID 21715678 DOI: 10.1126/scitranslmed.3002156  1
2011 Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, ... ... Cruchaga C, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics. 43: 436-41. PMID 21460841 DOI: 10.1038/ng.801  1
2011 Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, ... ... Cruchaga C, et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics. 43: 429-35. PMID 21460840 DOI: 10.1038/ng.803  1
2011 Kauwe JS, Cruchaga C, Karch CM, Sadler B, Lee M, Mayo K, Latu W, Su'a M, Fagan AM, Holtzman DM, Morris JC, Goate AM. Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease. Plos One. 6: e15918. PMID 21347408 DOI: 10.1371/journal.pone.0015918  1
2011 Cruchaga C, Graff C, Chiang HH, Wang J, Hinrichs AL, Spiegel N, Bertelsen S, Mayo K, Norton JB, Morris JC, Goate A. Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels. Archives of Neurology. 68: 581-6. PMID 21220649 DOI: 10.1001/archneurol.2010.350  1
2011 Ezquerra M, Pastor P, Gaig C, Vidal-Taboada JM, Cruchaga C, Muñoz E, Martí MJ, Valldeoriola F, Aguilar M, Calopa M, Hernandez-Vara J, Tolosa E. Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy. Neurobiology of Aging. 32: 547.e11-6. PMID 19879020 DOI: 10.1016/j.neurobiolaging.2009.09.011  1
2010 Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, ... ... Cruchaga C, et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. Plos One. 5: e13950. PMID 21085570 DOI: 10.1371/journal.pone.0013950  1
2010 Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MM, Williams J, Lovestone S, Peskind ER, Li G, et al. SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. Plos Genetics. 6: e1001101. PMID 20862329 DOI: 10.1371/journal.pgen.1001101  1
2010 Kauwe JS, Cruchaga C, Bertelsen S, Mayo K, Latu W, Nowotny P, Hinrichs AL, Fagan AM, Holtzman DM, Goate AM. Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels. Journal of Alzheimer's Disease : Jad. 21: 833-42. PMID 20634593 DOI: 10.3233/JAD-2010-091711  1
2010 Wang J, Van Damme P, Cruchaga C, Gitcho MA, Vidal JM, Seijo-Martínez M, Wang L, Wu JY, Robberecht W, Goate A. Pathogenic cysteine mutations affect progranulin function and production of mature granulins Journal of Neurochemistry. 112: 1305-1315. PMID 20028451 DOI: 10.1111/j.1471-4159.2009.06546.x  1
2009 Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, ... ... Cruchaga C, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics. 41: 1088-93. PMID 19734902 DOI: 10.1038/ng.440  1
2009 Fenoglio C, Galimberti D, Cortini F, Kauwe JS, Cruchaga C, Venturelli E, Villa C, Serpente M, Scalabrini D, Mayo K, Piccio LM, Clerici F, Albani D, Mariani C, Forloni G, et al. Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 18: 603-12. PMID 19625741 DOI: 10.3233/JAD-2009-1170  1
2009 Gitcho MA, Bigio EH, Mishra M, Johnson N, Weintraub S, Mesulam M, Rademakers R, Chakraverty S, Cruchaga C, Morris JC, Goate AM, Cairns NJ. TARDBP 3'-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy. Acta Neuropathologica. 118: 633-45. PMID 19618195 DOI: 10.1007/s00401-009-0571-7  1
2009 Wang JC, Cruchaga C, Saccone NL, Bertelsen S, Liu P, Budde JP, Duan W, Fox L, Grucza RA, Kern J, Mayo K, Reyes O, Rice J, Saccone SF, Spiegel N, et al. Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5. Human Molecular Genetics. 18: 3125-35. PMID 19443489 DOI: 10.1093/hmg/ddp231  1
2009 Cruchaga C, Vidal-Taboada JM, Ezquerra M, Lorenzo E, Martinez-Lage P, Blazquez M, Tolosa E, Pastor P. 5'-Upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration. Neurobiology of Disease. 33: 164-70. PMID 19022385 DOI: 10.1016/j.nbd.2008.09.027  1
2009 Cruchaga C, Fernández-Seara MA, Seijo-Martínez M, Samaranch L, Lorenzo E, Hinrichs A, Irigoyen J, Maestro C, Prieto E, Martí-Climent JM, Arbizu J, Pastor MA, Pastor P. Cortical atrophy and language network reorganization associated with a novel progranulin mutation. Cerebral Cortex (New York, N.Y. : 1991). 19: 1751-60. PMID 19020205 DOI: 10.1093/cercor/bhn202  1
2008 Kauwe JS, Cruchaga C, Mayo K, Fenoglio C, Bertelsen S, Nowotny P, Galimberti D, Scarpini E, Morris JC, Fagan AM, Holtzman DM, Goate AM. Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition. Proceedings of the National Academy of Sciences of the United States of America. 105: 8050-4. PMID 18541914 DOI: 10.1073/pnas.0801227105  1
2007 Cruchaga C, Anso E, Font M, Martino VS, Rouzaut A, Martinez-Irujo JJ. A new strategy to inhibit the excision reaction catalysed by HIV-1 reverse transcriptase: compounds that compete with the template-primer. The Biochemical Journal. 405: 165-71. PMID 17355225 DOI: 10.1042/BJ20061831  1
2006 Cruchaga C, Ansó E, Rouzaut A, Martínez-Irujo JJ. Selective excision of chain-terminating nucleotides by HIV-1 reverse transcriptase with phosphonoformate as substrate. The Journal of Biological Chemistry. 281: 27744-52. PMID 16829515 DOI: 10.1074/jbc.M603360200  1
2005 Cruchaga C, Odriozola L, Andréola M, Tarrago-Litvak L, Martínez-Irujo JJ. Inhibition of phosphorolysis catalyzed by HIV-1 reverse transcriptase is responsible for the synergy found in combinations of 3'-azido-3'-deoxythymidine with nonnucleoside inhibitors. Biochemistry. 44: 3535-46. PMID 15736963 DOI: 10.1021/bi048129z  1
2003 Odriozola L, Cruchaga C, Andréola M, Dollé V, Nguyen CH, Tarrago-Litvak L, Pérez-Mediavilla A, Martínez-Irujo JJ. Non-nucleoside inhibitors of HIV-1 reverse transcriptase inhibit phosphorolysis and resensitize the 3'-azido-3'-deoxythymidine (AZT)-resistant polymerase to AZT-5'-triphosphate. The Journal of Biological Chemistry. 278: 42710-6. PMID 12917424 DOI: 10.1074/jbc.M212673200  1
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