TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis
Cignarella, Francesca, Filipello, Fabia, Bollman, Bryan, Cantoni, Claudia, Locca, Alberto, Mikesell, Robert, Manis, Melissa, Ibrahim, Adiljan, Deng, Li, Benitez, Bruno A., Cruchaga, Carlos, Licastro, Danilo, Mihindukulasuriya, Kathie, Harari, Oscar, Buckland, Michael, Holtzman, David M., Rosenthal, Arnon, Schwabe, Tina, Tassi, Ilaria, Piccio, Laura
Published in Acta neuropathologica (01.10.2020)
Published in Acta neuropathologica (01.10.2020)
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Journal Article
Coding variants in TREM2 increase risk for Alzheimer's disease
Jin, Sheng Chih, Benitez, Bruno A, Karch, Celeste M, Cooper, Breanna, Skorupa, Tara, Carrell, David, Norton, Joanne B, Hsu, Simon, Harari, Oscar, Cai, Yefei, Bertelsen, Sarah, Goate, Alison M, Cruchaga, Carlos
Published in Human molecular genetics (01.11.2014)
Published in Human molecular genetics (01.11.2014)
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Journal Article
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders
Yang, Chengran, Farias, Fabiana H. G., Ibanez, Laura, Suhy, Adam, Sadler, Brooke, Fernandez, Maria Victoria, Wang, Fengxian, Bradley, Joseph L., Eiffert, Brett, Bahena, Jorge A., Budde, John P., Li, Zeran, Dube, Umber, Sung, Yun Ju, Mihindukulasuriya, Kathie A., Morris, John C., Fagan, Anne M., Perrin, Richard J., Benitez, Bruno A., Rhinn, Herve, Harari, Oscar, Cruchaga, Carlos
Published in Nature neuroscience (01.09.2021)
Published in Nature neuroscience (01.09.2021)
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Journal Article
Overexpressing low-density lipoprotein receptor reduces tau-associated neurodegeneration in relation to apoE-linked mechanisms
Shi, Yang, Andhey, Prabhakar Sairam, Ising, Christina, Wang, Kairuo, Snipes, Lisa L., Boyer, Kevin, Lawson, Stephanie, Yamada, Kaoru, Qin, Wei, Manis, Melissa, Serrano, Javier Remolina, Benitez, Bruno A., Schmidt, Robert E., Artyomov, Maxim, Ulrich, Jason D., Holtzman, David M.
Published in Neuron (Cambridge, Mass.) (04.08.2021)
Published in Neuron (Cambridge, Mass.) (04.08.2021)
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Journal Article
Genetic ablation of acid ceramidase in Krabbe disease confirms the psychosine hypothesis and identifies a new therapeutic target
Li, Yedda, Xu, Yue, Benitez, Bruno A., Nagree, Murtaza S., Dearborn, Joshua T., Jiang, Xuntian, Guzman, Miguel A., Woloszynek, Josh C., Giaramita, Alex, Yip, Bryan K., Elsbernd, Joseph, Babcock, Michael C., Lo, Melanie, Fowler, Stephen C., Wozniak, David F., Vogler, Carole A., Medin, Jeffrey A., Crawford, Brett E., Sands, Mark S.
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2019)
Published in Proceedings of the National Academy of Sciences - PNAS (01.10.2019)
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A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain
Del-Aguila, Jorge L, Li, Zeran, Dube, Umber, Mihindukulasuriya, Kathie A, Budde, John P, Fernandez, Maria Victoria, Ibanez, Laura, Bradley, Joseph, Wang, Fengxian, Bergmann, Kristy, Davenport, Richard, Morris, John C, Holtzman, David M, Perrin, Richard J, Benitez, Bruno A, Dougherty, Joseph, Cruchaga, Carlos, Harari, Oscar
Published in Alzheimer's research & therapy (09.08.2019)
Published in Alzheimer's research & therapy (09.08.2019)
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Journal Article
Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers
Brase, Logan, You, Shih-Feng, D’Oliveira Albanus, Ricardo, Del-Aguila, Jorge L., Dai, Yaoyi, Novotny, Brenna C., Soriano-Tarraga, Carolina, Dykstra, Taitea, Fernandez, Maria Victoria, Budde, John P., Bergmann, Kristy, Morris, John C., Bateman, Randall J., Perrin, Richard J., McDade, Eric, Xiong, Chengjie, Goate, Alison M., Farlow, Martin, Sutherland, Greg T., Kipnis, Jonathan, Karch, Celeste M., Benitez, Bruno A., Harari, Oscar
Published in Nature communications (21.04.2023)
Published in Nature communications (21.04.2023)
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Journal Article
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers
Del-Aguila, Jorge L, Benitez, Bruno A, Li, Zeran, Dube, Umber, Mihindukulasuriya, Kathie A, Budde, John P, Farias, Fabiana H G, Fernández, Maria Victoria, Ibanez, Laura, Jiang, Shan, Perrin, Richard J, Cairns, Nigel J, Morris, John C, Harari, Oscar, Cruchaga, Carlos
Published in Molecular neurodegeneration (08.05.2019)
Published in Molecular neurodegeneration (08.05.2019)
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Journal Article
Brain high-throughput multi-omics data reveal molecular heterogeneity in Alzheimer's disease
Eteleeb, Abdallah M, Novotny, Brenna C, Tarraga, Carolina Soriano, Sohn, Christopher, Dhungel, Eliza, Brase, Logan, Nallapu, Aasritha, Buss, Jared, Farias, Fabiana, Bergmann, Kristy, Bradley, Joseph, Norton, Joanne, Gentsch, Jen, Wang, Fengxian, Davis, Albert A, Morris, John C, Karch, Celeste M, Perrin, Richard J, Benitez, Bruno A, Harari, Oscar
Published in PLoS biology (01.04.2024)
Published in PLoS biology (01.04.2024)
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Journal Article
Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis
Benitez, Bruno A, Alvarado, David, Cai, Yefei, Mayo, Kevin, Chakraverty, Sumitra, Norton, Joanne, Morris, John C, Sands, Mark S, Goate, Alison, Cruchaga, Carlos
Published in PloS one (04.11.2011)
Published in PloS one (04.11.2011)
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Journal Article
Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration
Mahali, Sidhartha, Martinez, Rita, King, Melvin, Verbeck, Anthony, Harari, Oscar, Benitez, Bruno A., Horie, Kanta, Sato, Chihiro, Temple, Sally, Karch, Celeste M.
Published in Translational psychiatry (10.12.2022)
Published in Translational psychiatry (10.12.2022)
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Journal Article
Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels
Ibanez, Laura, Dube, Umber, Saef, Benjamin, Budde, John, Black, Kathleen, Medvedeva, Alexandra, Del-Aguila, Jorge L, Davis, Albert A, Perlmutter, Joel S, Harari, Oscar, Benitez, Bruno A, Cruchaga, Carlos
Published in BMC neurology (15.11.2017)
Published in BMC neurology (15.11.2017)
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Journal Article
The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers
Benitez, Bruno A, Karch, Celeste M, Cai, Yefei, Jin, Sheng Chih, Cooper, Breanna, Carrell, David, Bertelsen, Sarah, Chibnik, Lori, Schneider, Julie A, Bennett, David A, Fagan, Anne M, Holtzman, David, Morris, John C, Goate, Alison M, Cruchaga, Carlos
Published in PLoS genetics (2013)
Published in PLoS genetics (2013)
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Journal 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, Sheng Chih, Pastor, Pau, Cooper, Breanna, Cervantes, Sebastian, Benitez, Bruno A, Razquin, Cristina, Goate, Alison, Cruchaga, Carlos
Published in Alzheimer's research & therapy (20.08.2012)
Published in Alzheimer's research & therapy (20.08.2012)
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Journal Article
Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease
Ibanez, Laura, Dube, Umber, Davis, Albert A, Fernandez, Maria V, Budde, John, Cooper, Breanna, Diez-Fairen, Monica, Ortega-Cubero, Sara, Pastor, Pau, Perlmutter, Joel S, Cruchaga, Carlos, Benitez, Bruno A
Published in Frontiers in neuroscience (10.04.2018)
Published in Frontiers in neuroscience (10.04.2018)
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Journal Article
GWAS of Cerebrospinal Fluid Tau Levels Identifies Risk Variants for Alzheimer’s Disease
Cruchaga, Carlos, Kauwe, John S.K., Harari, Oscar, Jin, Sheng Chih, Cai, Yefei, Karch, Celeste M., Benitez, Bruno A., Jeng, Amanda T., Skorupa, Tara, Carrell, David, Bertelsen, Sarah, Bailey, Matthew, McKean, David, Shulman, Joshua M., De Jager, Philip L., Chibnik, Lori, Bennett, David A., Arnold, Steve E., Harold, Denise, Sims, Rebecca, Gerrish, Amy, Williams, Julie, Van Deerlin, Vivianna M., Lee, Virginia M.-Y., Shaw, Leslie M., Trojanowski, John Q., Haines, Jonathan L., Mayeux, Richard, Pericak-Vance, Margaret A., Farrer, Lindsay A., Schellenberg, Gerard D., Peskind, Elaine R., Galasko, Douglas, Fagan, Anne M., Holtzman, David M., Morris, John C., Goate, Alison M.
Published in Neuron (Cambridge, Mass.) (24.04.2013)
Published in Neuron (Cambridge, Mass.) (24.04.2013)
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Journal Article
Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease
Shannon, Barbara, Soto-Ortolaza, Alexandra, Rayaprolu, Sruti, Cannon, Heather D, Labbé, Catherine, Benitez, Bruno A, Choi, Jiyoon, Lynch, Timothy, Boczarska-Jedynak, Magdalena, Opala, Grzegorz, Krygowska-Wajs, Anna, Barcikowska, Maria, Van Gerpen, Jay A, Uitti, Ryan J, Springer, Wolfdieter, Cruchaga, Carlos, Wszolek, Zbigniew K, Ross, Owen A
Published in Neurobiology of aging (01.08.2014)
Published in Neurobiology of aging (01.08.2014)
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