Cruchaga, Carlos

Report of the APOE4 National Institute on Aging/Alzheimer Disease Sequencing Project Consortium Working Group: Reducing APOE4 in Carriers is a Therapeutic Goal for Alzheimer’s Disease

Vance, J. M., Farrer, L. A., Huang, Y., Cruchaga, C., Hyman, B. T., Pericak‐Vance, M. A., Goate, A. M., Greicius, M. D., Griswold, A. J., Haines, J. L., et al. (2024) · Annals of Neurology

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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SUCLG2 identified as both a determinator of CSF Aβ1–42 levels and an attenuator of cognitive decline in Alzheimer's disease

Ramirez, A., van der Flier, W. M., Herold, C., Ramonet, D., Heilmann, S., Lewczuk, P., Popp, J., Lacour, A., Drichel, D., Louwersheimer, E., et al. (2014) · Human Molecular Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Frontobasal gray matter loss is associated with the TREM2 p.R47H variant

Luis, E. O., Ortega-Cubero, S., Lamet, I., Razquin, C., Cruchaga, C., Benitez, B. A., Lorenzo, E., Irigoyen, J., Pastor, M. A., & Pastor, P. (2014) · Neurobiology of Aging

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

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Variants in PPP3R1 and MAPT are associated with more rapid functional decline in Alzheimer's disease: The Cache County Dementia Progression Study

Peterson, D., Munger, C., Crowley, J., Corcoran, C., Cruchaga, C., Goate, A. M., Norton, M. C., Green, R. C., Munger, R. G., Breitner, J. C. S., et al. (2014) · Alzheimer's & Dementia

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

Cited by 44

Alzheimer’s disease: rare variants with large effect sizes

Del-Aguila, J. L., Koboldt, D. C., Black, K., Chasse, R., Norton, J., Wilson, R. K., & Cruchaga, C. (2015) · Current Opinion in Genetics & Development

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 41

Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Kunkle, B., Grenier-Boley, B., Sims, R., Bis, J., Naj, A., Boland, A., Vronskaya, M., van der Lee, S., Amlie-Wolf, A., Bellenguez, C., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Examination of the Effect of Rare Variants in TREM2 , ABI3 , and PLCG2 in LOAD Through Multiple Phenotypes

Olive, C., Ibanez, L., Farias, F. H. G., Wang, F., Budde, J. P., Norton, J. B., Gentsch, J., Morris, J. C., Li, Z., Dube, U., et al. (2020) · Journal of Alzheimer’s Disease

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Gene-Based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes For Alzheimer’s Disease

Baker, E., Sims, R., Leonenko, G., Frizzati, A., Harwood, J., Grozeva, D., GERAD/PERADES, consortia, I., Morgan, K., Passmore, P., et al. (2018) · PLoS ONE

Alzheimer's disease research and treatmentsGenetic Associations and Epidemiology

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Genetic studies of plasma analytes identify novel potential biomarkers for several complex traits

Deming, Y., Xia, J., Cai, Y., Lord, J., Del-Aguila, J. L., Fernandez, M. V., Carrell, D., Black, K., Budde, J., Ma, S., et al. (2016) · Scientific Reports

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Longitudinal analysis of a dominantly inherited Alzheimer disease mutation carrier protected from dementia

Llibre-Guerra, J. J., Fernandez, M. V., Joseph-Mathurin, N., Bian, S., Carter, K., Li, Y., Aschenbrenner, A. J., Pottier, C., Sigurdson, W., McDade, E., et al. (2025) · Nature Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Overlap in the Genetic Architecture of Stroke Risk, Early Neurological Changes, and Cardiovascular Risk Factors

Ibanez, L., Heitsch, L., Dube, U., Farias, F. H. G., Budde, J., Bergmann, K., Davenport, R., Bradley, J., Carrera, C., Kinnunen, J., et al. (2019) · Stroke

Genetic Associations and EpidemiologyAcute Ischemic Stroke Management

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Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred

Cochran, J. N., Acosta‐Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton‐Howard, B., Andrews, S. J., et al. (2023) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Proteome Wide Association Studies of LRRK2 variants identify novel causal and druggable for Parkinson’s disease

Phillips, B., Western, D., Wang, L., Timsina, J., Sun, Y., Gorijala, P., Yang, C., Do, A., Nykänen, N.-P., Alvarez, I., et al. (2023) · npj Parkinson s Disease

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

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Genetic architecture of plasma Alzheimer disease biomarkers

Bradley, J., Gorijala, P., Schindler, S. E., Sung, Y. J., Ances, B., the Alzheimer’s Disease Neuroimaging Initiative, T. H. C. P., Ertekin-Taner, N., Younkin, S., Golde, T., Price, N., et al. (2023) · Human Molecular Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Amyloid-β predominant Alzheimer’s disease neuropathologic change

Kovacs, G. G., Katsumata, Y., Wu, X., Aung, K. Z., Fardo, D. W., Forrest, S. L., Alzheimer's Disease Genetics Consortium, Bowen, J. D., Crane, P. K., Jarvik, G. P., et al. (2025) · Brain

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome

Gorijala, P., Aslam, M. M., Dang, L. T., Xicota, L., Fernandez, M. V., Sung, Y. J., Fan, K., Feingold, E., Surace, E. I., Chhatwal, J. P., et al. (2024) · Alzheimer's & Dementia

Down syndrome and intellectual disability researchDementia and Cognitive Impairment Research

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A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain

Del-Aguila, J. L., Li, Z., Dube, U., Mihindukulasuriya, K. A., Budde, J. P., Fernandez, M. V., Ibanez, L., Bradley, J., Wang, F., Bergmann, K., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Single-cell and spatial transcriptomicsAlzheimer's disease research and treatments

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Proteomic clusters underlie heterogeneity in preclinical Alzheimer’s disease progression

Wisch, J. K., Butt, O. H., Gordon, B. A., Schindler, S. E., Fagan, A. M., Henson, R. L., Yang, C., Boerwinkle, A. H., Benzinger, T. L. S., Holtzman, D. M., et al. (2023) · Brain

Dementia and Cognitive Impairment ResearchAlzheimer's disease research and treatments

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Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2

Marsh, J. A., Huang, G., Bowling, K., Renton, A. E., Ziegemeier, E., Ball, T., Pottier, C., Cruchaga, C., Day, G. S., Bateman, R. J., et al. (2025) · Neurotherapeutics

Alzheimer's disease research and treatmentsGenomics and Rare Diseases

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Consensus meta-analysis of genome-wide association studies for Alzheimer’s disease and related dementias

EADB, Bellenguez, C., Castillo Morales, A., Amin, N., van der Lee, S. J., Muntaner, M., Parveen, K., Küçükali, F., Grenier-Boley, B., Heikkinen, S., et al. (2026) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Proteo‐genomics of soluble TREM2 in cerebrospinal fluid provides novel insights for TREM2 biology and identifies novel modulators for Alzheimer’s disease

Wang, L., Nykanen, N., Western, D., Gorijala, P., Timsina, J., Marquié, M., Boada, M., Alvarez, I., Aguilar, M., Pastor, P., et al. (2023) · Alzheimer's & Dementia

Neuroinflammation and Neurodegeneration MechanismsAlzheimer's disease research and treatments

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A Common Haplotype Lowers PU.1 Expression in Myeloid Cells and Delays Onset of Alzheimer's Disease

Huang, K.-L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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A genetic and proteomic comparison of key AD biomarkers across tissues

Marsh, T. W., Western, D., Timsina, J., Gorijala, P., Yang, C., Pastor, P., Liu, M., Morris, J. C., Bateman, R. J., Schindler, S. E., et al. (2024) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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Multi‐cohort cerebrospinal fluid proteomics identifies robust molecular signatures for asymptomatic and symptomatic Alzheimer's disease

Ali, M., Timsina, J., Wang, L., Do, A., Western, D., Sung, Y. J., & Cruchaga, C. (2023) · Alzheimer's & Dementia

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

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