Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status
Piccio, Laura, Deming, Yuetiva, Del-Águila, Jorge L., Ghezzi, Laura, Holtzman, David M., Fagan, Anne M., Fenoglio, Chiara, Galimberti, Daniela, Borroni, Barbara, Cruchaga, Carlos
Published in Acta neuropathologica (01.06.2016)
Published in Acta neuropathologica (01.06.2016)
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Journal Article
Chi3l1 /YKL-40 is controlled by the astrocyte circadian clock and regulates neuroinflammation and Alzheimer's disease pathogenesis
Lananna, Brian V, McKee, Celia A, King, Melvin W, Del-Aguila, Jorge L, Dimitry, Julie M, Farias, Fabiana H G, Nadarajah, Collin J, Xiong, David D, Guo, Chun, Cammack, Alexander J, Elias, Jack A, Zhang, Jinsong, Cruchaga, Carlos, Musiek, Erik S
Published in Science translational medicine (16.12.2020)
Published in Science translational medicine (16.12.2020)
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Journal Article
Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms
Cruchaga, Carlos, Del-Aguila, Jorge L., Saef, Benjamin, Black, Kathleen, Fernandez, Maria Victoria, Budde, John, Ibanez, Laura, Deming, Yuetiva, Kapoor, Manav, Tosto, Giuseppe, Mayeux, Richard P., Holtzman, David M., Fagan, Anne M., Morris, John C., Bateman, Randall J., Goate, Alison M., Harari, Oscar
Published in Alzheimer's & dementia (01.02.2018)
Published in Alzheimer's & dementia (01.02.2018)
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Journal Article
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
Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline
Del-Aguila, Jorge L, Fernández, Maria Victoria, Schindler, Suzanne, Ibanez, Laura, Deming, Yuetiva, Ma, Shengmei, Saef, Ben, Black, Kathleen, Budde, John, Norton, Joanne, Chasse, Rachel, Harari, Oscar, Goate, Alison, Xiong, Chengjie, Morris, John C, Cruchaga, Carlos
Published in Journal of Alzheimer's disease (01.01.2018)
Published in Journal of Alzheimer's disease (01.01.2018)
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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
Single nuclei RNA‐sequencing of GWAS loci variant carriers elucidates cell‐types and transcriptional profile alterations associated with Alzheimer disease
Brase, Logan, Del‐Aguila, Jorge L., You, Shih‐Feng, Soriano‐Tarraga, Carolina, Farias, Fabiana H.G., Benitez, Bruno A., Karch, Celeste M., Cruchaga, Carlos, Harari, Oscar
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Multi‐omics approaches reveal a link between the MS4A gene loci, TREM2, and microglia function
You, Shih‐Feng, Brase, Logan, Filipello, Fabia, Del‐Aguila, Jorge L., Mihindukulasuriya, Kathie A., Benitez, Bruno A., Cruchaga, Carlos, Harari, Oscar, Karch, Celeste M.
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Identification of genetic modifiers for Alzheimer disease: The Familial Alzheimer Sequencing (FASe) project
Neupane, Achal, Budde, John P., Bergmann, Kristy, Norton, Joanne, Gentsch, Jen, Wang, Fengxian, Del‐Aguila, Jorge L., Ibanez, Laura, Morris, John C., Goate, Alison M., Renton, Alan E., Fernandez, Victoria, Cruchaga, Carlos
Published in Alzheimer's & dementia (01.12.2021)
Published in Alzheimer's & dementia (01.12.2021)
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Journal Article
Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure
Li, Zeran, Del-Aguila, Jorge L, Dube, Umber, Budde, John, Martinez, Rita, Black, Kathleen, Xiao, Qingli, Cairns, Nigel J, Dougherty, Joseph D, Lee, Jin-Moo, Morris, John C, Bateman, Randall J, Karch, Celeste M, Cruchaga, Carlos, Harari, Oscar
Published in Genome medicine (08.06.2018)
Published in Genome medicine (08.06.2018)
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Journal Article
Evaluation of Gene-Based Family-Based Methods to Detect Novel Genes Associated With Familial Late Onset Alzheimer Disease
Fernández, Maria V, Budde, John, Del-Aguila, Jorge L, Ibañez, Laura, Deming, Yuetiva, Harari, Oscar, Norton, Joanne, Morris, John C, Goate, Alison M, Cruchaga, Carlos
Published in Frontiers in neuroscience (04.04.2018)
Published in Frontiers in neuroscience (04.04.2018)
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Journal Article
Genome-wide association study for variants that modulate relationships between cerebrospinal fluid amyloid-beta 42, tau, and p-tau levels
Maxwell, Taylor J, Corcoran, Chris, Del-Aguila, Jorge L, Budde, John P, Deming, Yuetiva, Cruchaga, Carlos, Goate, Alison M, Kauwe, John S K
Published in Alzheimer's research & therapy (28.08.2018)
Published in Alzheimer's research & therapy (28.08.2018)
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Journal Article
ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy
Shi, Yang, Yamada, Kaoru, Liddelow, Shane Antony, Smith, Scott T., Zhao, Lingzhi, Luo, Wenjie, Tsai, Richard M., Spina, Salvatore, Grinberg, Lea T., Rojas, Julio C., Gallardo, Gilbert, Wang, Kairuo, Roh, Joseph, Robinson, Grace, Finn, Mary Beth, Jiang, Hong, Sullivan, Patrick M., Baufeld, Caroline, Wood, Michael W., Sutphen, Courtney, McCue, Lena, Xiong, Chengjie, Del-Aguila, Jorge L., Morris, John C., Cruchaga, Carlos, Fagan, Anne M., Miller, Bruce L., Boxer, Adam L., Seeley, William W., Butovsky, Oleg, Barres, Ben A., Paul, Steven M., Holtzman, David M.
Published in Nature (London) (28.09.2017)
Published in Nature (London) (28.09.2017)
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Journal Article
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk
Deming, Yuetiva, Filipello, Fabia, Cignarella, Francesca, Cantoni, Claudia, Hsu, Simon, Mikesell, Robert, Li, Zeran, Del-Aguila, Jorge L, Dube, Umber, Farias, Fabiana Geraldo, Bradley, Joseph, Budde, John, Ibanez, Laura, Fernandez, Maria Victoria, Blennow, Kaj, Zetterberg, Henrik, Heslegrave, Amanda, Johansson, Per M, Svensson, Johan, Nellgård, Bengt, Lleo, Alberto, Alcolea, Daniel, Clarimon, Jordi, Rami, Lorena, Molinuevo, José Luis, Suárez-Calvet, Marc, Morenas-Rodríguez, Estrella, Kleinberger, Gernot, Ewers, Michael, Harari, Oscar, Haass, Christian, Brett, Thomas J, Benitez, Bruno A, Karch, Celeste M, Piccio, Laura, Cruchaga, Carlos
Published in Science translational medicine (14.08.2019)
Published in Science translational medicine (14.08.2019)
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Journal Article
A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease
Huang, Kuan-lin, Marcora, Edoardo, Pimenova, Anna A, Di Narzo, Antonio F, Kapoor, Manav, Jin, Sheng Chih, Harari, Oscar, Bertelsen, Sarah, Fairfax, Benjamin P, Czajkowski, Jake, Chouraki, Vincent, Grenier-Boley, Benjamin, Bellenguez, Céline, Deming, Yuetiva, McKenzie, Andrew, Raj, Towfique, Renton, Alan E, Budde, John, Smith, Albert, Fitzpatrick, Annette, Bis, Joshua C, DeStefano, Anita, Adams, Hieab H H, Ikram, M Arfan, van der Lee, Sven, Del-Aguila, Jorge L, Fernandez, Maria Victoria, Ibañez, Laura, Sims, Rebecca, Escott-Price, Valentina, Mayeux, Richard, Haines, Jonathan L, Farrer, Lindsay A, Pericak-Vance, Margaret A, Lambert, Jean Charles, van Duijn, Cornelia, Launer, Lenore, Seshadri, Sudha, Williams, Julie, Amouyel, Philippe, Schellenberg, Gerard D, Zhang, Bin, Borecki, Ingrid, Kauwe, John S K, Cruchaga, Carlos, Hao, Ke, Goate, Alison M
Published in Nature neuroscience (01.08.2017)
Published in Nature neuroscience (01.08.2017)
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Journal Article
Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)-PET imaging
Yan, Qi, Nho, Kwangsik, Del-Aguila, Jorge L., Wang, Xingbin, Risacher, Shannon L., Fan, Kang-Hsien, Snitz, Beth E., Aizenstein, Howard J., Mathis, Chester A., Lopez, Oscar L., Demirci, F. Yesim, Feingold, Eleanor, Klunk, William E., Saykin, Andrew J., Cruchaga, Carlos, Kamboh, M. Ilyas
Published in Molecular psychiatry (01.01.2021)
Published in Molecular psychiatry (01.01.2021)
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Journal Article
Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers
Deming, Yuetiva, Li, Zeran, Kapoor, Manav, Harari, Oscar, Del-Aguila, Jorge L., Black, Kathleen, Carrell, David, Cai, Yefei, Fernandez, Maria Victoria, Budde, John, Ma, Shengmei, Saef, Benjamin, Howells, Bill, Huang, Kuan-lin, Bertelsen, Sarah, Fagan, Anne M., Holtzman, David M., Morris, John C., Kim, Sungeun, Saykin, Andrew J., De Jager, Philip L., Albert, Marilyn, Moghekar, Abhay, O’Brien, Richard, Riemenschneider, Matthias, Petersen, Ronald C., Blennow, Kaj, Zetterberg, Henrik, Minthon, Lennart, Van Deerlin, Vivianna M., Lee, Virginia Man-Yee, Shaw, Leslie M., Trojanowski, John Q., Schellenberg, Gerard, Haines, Jonathan L., Mayeux, Richard, Pericak-Vance, Margaret A., Farrer, Lindsay A., Peskind, Elaine R., Li, Ge, Di Narzo, Antonio F., Kauwe, John S. K., Goate, Alison M., Cruchaga, Carlos
Published in Acta neuropathologica (01.05.2017)
Published in Acta neuropathologica (01.05.2017)
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Journal Article
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion
Li, Zeran, Farias, Fabiana H. G., Dube, Umber, Del-Aguila, Jorge L., Mihindukulasuriya, Kathie A., Fernandez, Maria Victoria, Ibanez, Laura, Budde, John P., Wang, Fengxian, Lake, Allison M., Deming, Yuetiva, Perez, James, Yang, Chengran, Bahena, Jorge A., Qin, Wei, Bradley, Joseph L., Davenport, Richard, Bergmann, Kristy, Morris, John C., Perrin, Richard J., Benitez, Bruno A., Dougherty, Joseph D., Harari, Oscar, Cruchaga, Carlos
Published in Acta neuropathologica (01.01.2020)
Published in Acta neuropathologica (01.01.2020)
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Journal Article