Carlos Cruchaga

View Scopus Profile

Carlos Cruchaga

Barbara Burton & Reuben Morriss III Professor, Professor of Psychiatry, Professor of Neurology, Professor of Genetics

 https://orcid.org/0000-0002-0276-2899

    Willing to Mentor

    Available to Mentor:

    PhD/MSTP Students, Post-Baccalaureate Students, Postdocs, Residents and Fellows, Undergraduate Students

    • 38306
      Citations
    20032024

    Research activity per year

    Search results

    • 2013

      The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

      Benitez, B. A., Karch, C. M., Cai, Y., Jin, S. C., Cooper, B., Carrell, D., Bertelsen, S., Chibnik, L., Schneider, J. A., Bennett, D. A., Fagan, A. M., Holtzman, D., Morris, J. C., Goate, A. M. & Cruchaga, C., Aug 2013, In: PLoS genetics. 9, 8, e1003685.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      53 Scopus citations

    • TREM2 and neurodegenerative disease

      Benitez, B. A. & Cruchaga, C., 2013, In: New England Journal of Medicine. 369, 16, p. 1567-1568 2 p.

      Research output: Contribution to journal › Letter › peer-review

      Open Access
      82 Scopus citations

    • TREM2 is associated with the risk of Alzheimer's disease in Spanish population

      Benitez, B. A., Cooper, B., Pastor, P., Jin, S. C., Lorenzo, E., Cervantes, S. & Cruchaga, C., Jun 2013, In: Neurobiology of Aging. 34, 6, p. 1711.e15-1711.e17

      Research output: Contribution to journal › Article › peer-review

      Open Access
      126 Scopus citations

    • TREM2 variants in Alzheimer's disease

      Guerreiro, R., Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J. C., Amouyel, P., Goate, A., Rademakers, R. & Morgan, K. & 4 others, Powell, J., George-Hyslop, P. S., Singleton, A. & Hardy, J., Jan 10 2013, In: New England Journal of Medicine. 368, 2, p. 117-127 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      2243 Scopus citations
    • 2012

      Cerebrospinal fluid APOE levels: An endophenotype for genetic studies for Alzheimer's disease

      Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Bales, K., Pickering, E. H., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Oct 2012, In: Human molecular genetics. 21, 20, p. 4558-4571 14 p., dds296.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      174 Scopus citations

    • Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

      Whitcomb, D. C., LaRusch, J., Krasinskas, A. M., Klei, L., Smith, J. P., Brand, R. E., Neoptolemos, J. P., Lerch, M. M., Tector, M., Sandhu, B. S., Guda, N. M., Orlichenko, L., Alkaade, S., Amann, S. T., Anderson, M. A., Baillie, J., Banks, P. A., Conwell, D., Coté, G. A. & Cotton, P. B. & 178 others, DiSario, J., Farrer, L. A., Forsmark, C. E., Johnstone, M., Gardner, T. B., Gelrud, A., Greenhalf, W., Haines, J. L., Hartman, D. J., Hawes, R. A., Lawrence, C., Lewis, M., Mayerle, J., Mayeux, R., Melhem, N. M., Money, M. E., Muniraj, T., Papachristou, G. I., Pericak-Vance, M. A., Romagnuolo, J., Schellenberg, G. D., Sherman, S., Simon, P., Singh, V. P., Slivka, A., Stolz, D., Sutton, R., Weiss, F. U., Wilcox, C. M., Zarnescu, N. O., Wisniewski, S. R., O'Connell, M. R., Kienholz, M. L., Roeder, K., Barmada, M. M., Yadav, D., Devlin, B., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barnes, L. L., Beach, T. G., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boxer, A., Burke, J. R., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Cruchaga, C., DeCarli, C., Demirci, F. Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton-Nelson, K. L., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Jun, G., Kamboh, M. I., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., Kramer, P., Kukul, W. A., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lin, C. F., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Lyketsos, C. G., MacK, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrel, J. R., Naj, A. C., Olichney, J. M., Parisi, J. E., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Valladares, O., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsatte, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. E. & Yu, L., Dec 2012, In: Nature Genetics. 44, 12, p. 1349-1354 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      280 Scopus citations

    • Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

      Coppola, G., Chinnathambi, S., Lee, J. J. Y., Dombroski, B. A., Baker, M. C., Soto-ortolaza, A. I., Lee, S. E., Klein, E., Huang, A. Y., Sears, R., Lane, J. R., Karydas, A. M., Kenet, R. O., Biernat, J., Wang, L. S., Cotman, C. W., Decarli, C. S., Levey, A. I., Ringman, J. M. & Mendez, M. F. & 210 others, Chui, H. C., Le ber, I., Brice, A., Lupton, M. K., Preza, E., Lovestone, S., Powell, J., Graff-radford, N., Petersen, R. C., Boeve, B. F., Lippa, C. F., Bigio, E. H., Mackenzie, I., Finger, E., Kertesz, A., Caselli, R. J., Gearing, M., Juncos, J. L., Ghetti, B., Spina, S., Bordelon, Y. M., Tourtellotte, W. W., Frosch, M. P., Vonsattel, J. P. G., Zarow, C., Beach, T. G., Albin, R. L., Lieberman, A. P., Lee, V. M., Trojanowski, J. Q., Van deerlin, V. M., Bird, T. D., Galasko, D. R., Masliah, E., White, C. L., Troncoso, J. C., Hannequin, D., Boxer, A. L., Geschwind, M. D., Kumar, S., Mandelkow, E. M., Wszolek, Z. K., Uitti, R. J., Dickson, D. W., Haines, J. L., Mayeux, R., Pericak-vance, M. A., Farrer, L. A., Apostolova, L. G., Arnold, S. E., Baldwin, C. T., Barber, R., Barmada, M. M., Beach, T., Beecham, G. W., Beekly, D., Bennett, D. A., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Buros, J., Buxbaum, J. D., Cairns, N. J., Cantwell, L. B., Cao, C., Carlson, C. S., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Crane, P. K., Cruchaga, C., Cummings, J. L., De Jager, P. L., DeCarli, C., DeKosky, S. T., Demirci, F. Y., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Dombroski, B. A., Duara, R., Ellis, W. G., Ertekin-Taner, N. N., Evans, D., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Foroud, T. M., Frosch, M. P., Galasko, D. R., Gallins, P. J., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Goate, A. M., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Hardy, J., Harrell, L. E., Head, E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Johnson, N., Jun, G., Kamboh, M. I., Karlawish, J., Karydas, A., Kauwe, J. S. K., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, P., Kukull, W. A., Lah, J. J., Larson, E. B., Levey, A. I., Lieberman, A. P., Lopez, O. L., Lunetta, K. L., Mack, W. J., Marson, D. C., Martin, E. R., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Myers, A. J., Naj, A. C., Nowotny, P., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Rajbhandary, R. A., Raskind, M., Reiman, E. M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosenberg, R. N., Sano, M., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., George-Hyslop, P. S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Wang, L. S., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Younkin, S. G., Ross, O. A., Rademakers, R., Schellenberg, G. D., Miller, B. L., Mandelkow, E. & Geschwind, D. H., Jan 1 2012, In: Human molecular genetics. 21, 15, p. 3500-3512 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      201 Scopus citations

    • Expression of Novel Alzheimer's Disease Risk Genes in Control and Alzheimer's Disease Brains

      Karch, C. M., Jeng, A. T., Nowotny, P., Cady, J., Cruchaga, C. & Goate, A. M., Nov 30 2012, In: PloS one. 7, 11, e50976.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      263 Scopus citations

    • Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis

      Greaves, J., Lemonidis, K., Gorleku, O. A., Cruchaga, C., Grefen, C. & Chamberlain, L. H., Oct 26 2012, In: Journal of Biological Chemistry. 287, 44, p. 37330-37339 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      51 Scopus citations

    • 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, S. C., Pastor, P., Cooper, B., Cervantes, S., Benitez, B. A., Razquin, C., Goate, A. & Cruchaga, C., 2012, In: Alzheimer's Research and Therapy. 4, 4, 34.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      91 Scopus citations

    • Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

      Cruchaga, C., Chakraverty, S., Mayo, K., Vallania, F. L. M., Mitra, R. D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., Boeve, B. F., Graff-Radford, N. R., St. Jean, P., Lawson, M., Ehm, M. G., Mayeux, R., Goate, A. M. & for the NIA-LOAD - NCRAD Family Study Consortium, T.N.-L. N. F. S. C., Feb 1 2012, In: PloS one. 7, 2, e31039.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      256 Scopus citations

    • The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

      Gerrish, A., Russo, G., Richards, A., Moskvina, V., Ivanov, D., Harold, D., Sims, R., Abraham, R., Hollingworth, P., Chapman, J., Hamshere, M., Pahwa, J. S., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S. & Powell, J. & 73 others, Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Johnston, J. A., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Kölsch, H., Heun, R., Schürmann, B., Bussche, H. V. D., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Davies, G., Harris, S. E., Starr, J. M., Deary, I. J., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Jones, L., Holmans, P. A., O'Donovan, M. C., Owen, M. J. & Williams, J., 2012, In: Journal of Alzheimer's Disease. 28, 2, p. 377-387 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      58 Scopus citations
    • 2011

      Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease

      Cruchaga, C., Nowotny, P., Kauwe, J. S. K., Ridge, P. G., Mayo, K., Bertelsen, S., Hinrichs, A., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Aug 2011, In: Archives of neurology. 68, 8, p. 1013-1019 7 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      97 Scopus citations

    • Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

      Cruchaga, C., Graff, C., Chiang, H. H., Wang, J., Hinrichs, A. L., Spiegel, N., Bertelsen, S., Mayo, K., Norton, J. B., Morris, J. C. & Goate, A., May 2011, In: Archives of neurology. 68, 5, p. 581-586 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      138 Scopus citations

    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease

      Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J. C., Carrasquillo, M. M., Abraham, R., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Jones, N., Stretton, A., Thomas, C., Richards, A., Ivanov, D., Widdowson, C., Chapman, J., Lovestone, S. & Powell, J. & 152 others, Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Beaumont, H., Warden, D., Wilcock, G., Love, S., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Hardy, J., Mead, S., Fox, N. C., Rossor, M., Collinge, J., Maier, W., Jessen, F., Rüther, E., Schürmann, B., Heun, R., Kölsch, H., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Gallacher, J., Hüll, M., Rujescu, D., Giegling, I., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Pankratz, V. S., Sando, S. B., Aasly, J. O., Barcikowska, M., Wszolek, Z. K., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Van Duijn, C. M., Breteler, M. M. B., Ikram, M. A., Destefano, A. L., Fitzpatrick, A. L., Lopez, O., Launer, L. J., Seshadri, S., Berr, C., Campion, D., Epelbaum, J., Dartigues, J. F., Tzourio, C., Alpérovitch, A., Lathrop, M., Feulner, T. M., Friedrich, P., Riehle, C., Krawczak, M., Schreiber, S., Mayhaus, M., Nicolhaus, S., Wagenpfeil, S., Steinberg, S., Stefansson, H., Stefansson, K., SnÆdal, J., Björnsson, S., Jonsson, P. V., Chouraki, V., Genier-Boley, B., Hiltunen, M., Soininen, H., Combarros, O., Zelenika, D., Delepine, M., Bullido, M. J., Pasquier, F., Mateo, I., Frank-Garcia, A., Porcellini, E., Hanon, O., Coto, E., Alvarez, V., Bosco, P., Siciliano, G., Mancuso, M., Panza, F., Solfrizzi, V., Nacmias, B., Sorbi, S., Bossù, P., Piccardi, P., Arosio, B., Annoni, G., Seripa, D., Pilotto, A., Scarpini, E., Galimberti, D., Brice, A., Hannequin, D., Licastro, F., Jones, L., Holmans, P. A., Jonsson, T., Riemenschneider, M., Morgan, K., Younkin, S. G., Owen, M. J., O'Donovan, M., Amouyel, P. & Williams, J., May 2011, In: Nature Genetics. 43, 5, p. 429-436 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1627 Scopus citations

    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

      Naj, A. C., Jun, G., Beecham, G. W., Wang, L. S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., Larson, E. B., Bird, T. D., Boeve, B. F., Graff-Radford, N. R., De Jager, P. L., Evans, D., Schneider, J. A., Carrasquillo, M. M., Ertekin-Taner, N. & Younkin, S. G. & 135 others, Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Kramer, P., Hardy, J., Huentelman, M. J., Myers, A. J., Barmada, M. M., Demirci, F. Y., Baldwin, C. T., Green, R. C., Rogaeva, E., George-Hyslop, P. S., Arnold, S. E., Barber, R., Beach, T., Bigio, E. H., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Carlson, C. S., Carney, R. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cotman, C. W., Cummings, J. L., Decarli, C., Dekosky, S. T., Diaz-Arrastia, R., Dick, M., Dickson, D. W., Ellis, W. G., Faber, K. M., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Ganguli, M., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Gilman, S., Giordani, B., Glass, J. D., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jicha, G. A., Jin, L. W., Johnson, N., Karlawish, J., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Lah, J. J., Levey, A. I., Lieberman, A. P., Lopez, O. L., MacK, W. J., Marson, D. C., Martiniuk, F., Mash, D. C., Masliah, E., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Parisi, J. E., Perl, D. P., Peskind, E., Petersen, R. C., Poon, W. W., Quinn, J. F., Rajbhandary, R. A., Raskind, M., Reisberg, B., Ringman, J. M., Roberson, E. D., Rosenberg, R. N., Sano, M., Schneider, L. S., Seeley, W., Shelanski, M. L., Slifer, M. A., Smith, C. D., Sonnen, J. A., Spina, S., Stern, R. A., Tanzi, R. E., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Woltjer, R. L., Cantwell, L. B., Dombroski, B. A., Beekly, D., Lunetta, K. L., Martin, E. R., Kamboh, M. I., Saykin, A. J., Reiman, E. M., Bennett, D. A., Morris, J. C., Montine, T. J., Goate, A. M., Blacker, D., Tsuang, D. W., Hakonarson, H., Kukull, W. A., Foroud, T. M., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A. & Schellenberg, G. D., May 2011, In: Nature Genetics. 43, 5, p. 436-443 8 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      1597 Scopus citations

    • Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy

      Ezquerra, M., Pastor, P., Gaig, C., Vidal-Taboada, J. M., Cruchaga, C., Muñoz, E., Martí, M. J., Valldeoriola, F., Aguilar, M., Calopa, M., Hernandez-Vara, J. & Tolosa, E., Mar 2011, In: Neurobiology of Aging. 32, 3, p. 547.e11-547.e16

      Research output: Contribution to journal › Article › peer-review

      30 Scopus citations

    • Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis

      Benitez, B. A., Alvarado, D., Cai, Y., Mayo, K., Chakraverty, S., Norton, J., Morris, J. C., Sands, M. S., Goate, A. & Cruchaga, C., Nov 4 2011, In: PloS one. 6, 11, e26741.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      92 Scopus citations

    • Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease

      Kauwe, J. S. K., Cruchaga, C., Karch, C. M., Sadler, B., Lee, M., Mayo, K., Latu, W., Su'a, M., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., 2011, In: PloS one. 6, 2, e15918.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      58 Scopus citations

    • Human apoE isoforms differentially regulate brain amyloid-β peptide clearance

      Castellano, J. M., Kim, J., Stewart, F. R., Jiang, H., DeMattos, R. B., Patterson, B. W., Fagan, A. M., Morris, J. C., Mawuenyega, K. G., Cruchaga, C., Goate, A. M., Bales, K. R., Paul, S. M., Bateman, R. J. & Holtzman, D. M., Jun 29 2011, In: Science translational medicine. 3, 89, 89ra57.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      926 Scopus citations
    • 2010

      Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease

      Jones, L., Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Pahwa, J. S., Jones, N., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K. & Brayne, C. & 62 others, Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., Mcguinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., van den Bussche, H., Heuser, I., Peters, O., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Harald, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Livingston, G., Bass, N. J., Gurling, H., Mcquillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Rüther, E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Hardy, J., O'Donovan, M. C., Owen, M. J. & Williams, J., 2010, In: PloS one. 5, 11, e13950.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      332 Scopus citations

    • Pathogenic cysteine mutations affect progranulin function and production of mature granulins

      Wang, J., Van Damme, P., Cruchaga, C., Gitcho, M. A., Vidal, J. M., Seijo-Martínez, M., Wang, L., Wu, J. Y., Robberecht, W. & Goate, A., Mar 2010, In: Journal of Neurochemistry. 112, 5, p. 1305-1315 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      74 Scopus citations

    • SNPs associated with cerebrospinal fluid Phospho-tau levels influence rate of decline in alzheimer's disease

      Cruchaga, C., Kauwe, J. S. K., Mayo, K., Spiegel, N., Bertelsen, S., Nowotny, P., Shah, A. R., Abraham, R., Hollingworth, P., Harold, D., Owen, M. M., Williams, J., Lovestone, S., Peskind, E. R., Li, G., Leverenz, J. B., Galasko, D., Morris, J. C., Fagan, A. M. & Holtzman, D. M. & 1 others, Goate, A. M., Sep 1 2010, In: PLoS genetics. 6, 9, e1001101.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      107 Scopus citations

    • Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease

      Kauwe, J. S. K., Bertelsen, S., Mayo, K., Cruchaga, C., Abraham, R., Hollingworth, P., Harold, D., Owen, M. J., Williams, J., Lovestone, S., Morris, J. C. & Goate, A. M., Jun 2010, In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 153, 4, p. 955-959 5 p.

      Research output: Contribution to journal › Article › peer-review

      49 Scopus citations

    • Validating predicted biological effects of Alzheimer's disease associated SNPs using CSF biomarker levels

      Kauwe, J. S. K., Cruchaga, C., Bertelsen, S., Mayo, K., Latu, W., Nowotny, P., Hinrichs, A. L., Fagan, A. M., Holtzman, D. M., Alzheimer'S Disease Neuroimaging Initiative, D. N. I. & Goate, A. M., 2010, In: Journal of Alzheimer's Disease. 21, 3, p. 833-842 10 p.

      Research output: Contribution to journal › Article › peer-review

      40 Scopus citations
    • 2009

      5′-upstream variants of CRHR1 and MAPT genes associated with age at onset in progressive supranuclear palsy and cortical basal degeneration

      Cruchaga, C., Vidal-Taboada, J. M., Ezquerra, M., Lorenzo, E., Martinez-Lage, P., Blazquez, M., Tolosa, E., Pastor, P., Gaig, C., Marti, M. J., Molinuevo, J. L., Valldeoriola, F., Campdelacreu, J., Masdeuf, J. C., Luquín, R., Obesof, J. A., Pastor, M. A., Riverol, M., Rodriguezf, M. C. & Villoslada, P. & 7 others, Tuñon, T., Huerta, C., Alvarez, V., Calopa, M., Erro, E., Rojo, A. & Ruiz, J., Feb 1 2009, In: Neurobiology of Disease. 33, 2, p. 164-170 7 p.

      Research output: Contribution to journal › Article › peer-review

      27 Scopus citations

    • Cortical atrophy and language network reorganization associated with a novel progranulin mutation

      Cruchaga, C., Fernández-Seara, M. A., Seijo-Martínez, M., Samaranch, L., Lorenzo, E., Hinrichs, A., Irigoyen, J., Maestro, C., Prieto, E., Martí-Climent, J. M., Arbizu, J., Pastor, M. A. & Pastor, P., Aug 2009, In: Cerebral Cortex. 19, 8, p. 1751-1760 10 p.

      Research output: Contribution to journal › Article › peer-review

      43 Scopus citations

    • Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease (Nature Genetics) (2009) 41 (1088-1093))

      Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C. & Rubinsztein, D. C. & 67 others, Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Guerreiro, R., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Oct 1 2009, In: Nature Genetics. 41, 10, p. 1156 1 p.

      Research output: Contribution to journal › Comment/debate

      Open Access
      6 Scopus citations

    • Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence

      Wang, J. C., Grucza, R., Cruchaga, C., Hinrichs, A. L., Bertelsen, S., Budde, J. P., Fox, L., Goldstein, E., Reyes, O., Saccone, N., Saccone, S., Xuei, X., Bucholz, K., Kuperman, S., Nurnberger, J., Rice, J. P., Schuckit, M., Tischfield, J., Hesselbrock, V. & Porjesz, B. & 3 others, Edenberg, H. J., Bierut, L. J. & Goate, A. M., May 2009, In: Molecular Psychiatry. 14, 5, p. 501-510 10 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      177 Scopus citations

    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease

      Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A. R., Lovestone, S., Powell, J., Proitsi, P., Lupton, M. K., Brayne, C. & Rubinsztein, D. C. & 65 others, Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. H., Klopp, N., Wichmann, H. E., Carrasquillo, M. M., Pankratz, V. S., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Oct 1 2009, In: Nature Genetics. 41, 10, p. 1088-1093 6 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      2357 Scopus citations

    • Risk for nicotine dependence and lung cancer is conferred by mRNA expression levels and amino acid change in CHRNA5

      Wang, J. C., Cruchaga, C., Saccone, N. L., Bertelsen, S., Liu, P., Budde, J. P., Duan, W., Fox, L., Grucza, R. A., Kern, J., Mayo, K., Reyes, O., Rice, J., Saccone, S. F., Spiegel, N., Steinbach, J. H., Stitzel, J. A., Anderson, M. W., You, M. & Stevens, V. L. & 26 others, Bierut, L. J., Goate, A. M., Breslau, N., Culverhouse, R., Hatsukami, D., Hinrichs, A., Johnson, E., Vikis, H., Lu, Y., Wang, Y., Yang, P., Pinney, S. M., Petersen, G. M., de Andrade, M., Schwartz, A. G., Gazdar, A., Gaba, C., Mandal, D., Kupert, E., Lee, J., Seminara, D., Fain, P. R., Minna, J., Bailey-Wilson, J. E., Li, Y. & Amos, C. I., 2009, In: Human molecular genetics. 18, 16, p. 3125-3135 11 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      154 Scopus citations

    • Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with alzheimer's disease

      Fenoglio, C., Galimberti, D., Cortini, F., Kauwe, J. S. K., Cruchaga, C., Venturelli, E., Villa, C., Serpente, M., Scalabrini, D., Mayo, K., Piccio, L. M., Clerici, F., Albani, D., Mariani, C., Forloni, G., Bresolin, N., Goate, A. M. & Scarpini, E., 2009, In: Journal of Alzheimer's Disease. 18, 3, p. 603-612 10 p.

      Research output: Contribution to journal › Article › peer-review

      60 Scopus citations

    • TARDBP 3′-UTR variant in autopsy-confirmed frontotemporal lobar degeneration with TDP-43 proteinopathy

      Gitcho, M. A., Bigio, E. H., Mishra, M., Johnson, N., Weintraub, S., Mesulam, M., Rademakers, R., Chakraverty, S., Cruchaga, C., Morris, J. C., Goate, A. M. & Cairns, N. J., Nov 2009, In: Acta Neuropathologica. 118, 5, p. 633-645 13 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      117 Scopus citations
    • 2008

      Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition

      Kauwe, J. S. K., Cruchaga, C., Mayo, K., Fenoglio, C., Bertelsen, S., Nowotny, P., Galimberti, D., Scarpini, E., Morris, J. C., Fagan, A. M., Holtzman, D. M. & Goate, A. M., Jun 10 2008, In: Proceedings of the National Academy of Sciences of the United States of America. 105, 23, p. 8050-8054 5 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      80 Scopus citations
    • 2007

      A new strategy to inhibit the excision reaction catalysed by HIV-1 reverse transcriptase: Compounds that compete with the template-primer

      Cruchaga, C., Anso, E., Font, M., Martino, V. S., Rouzaut, A. & Martinez-Irujo, J. J., Jul 1 2007, In: Biochemical Journal. 405, 1, p. 165-171 7 p.

      Research output: Contribution to journal › Article › peer-review

      4 Scopus citations
    • 2006

      Selective excision of chain-terminating nucleotides by HIV-1 reverse transcriptase with phosphonoformate as substrate

      Cruchaga, C., Ansó, E., Rouzaut, A. & Martínez-Irujo, J. J., Sep 22 2006, In: Journal of Biological Chemistry. 281, 38, p. 27744-27752 9 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      18 Scopus citations
    • 2005

      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

      Cruchaga, C., Odriozola, L., Andréola, M., Tarrago-Litvak, L. & Martínez-Irujo, J. J., Mar 8 2005, In: Biochemistry. 44, 9, p. 3535-3546 12 p.

      Research output: Contribution to journal › Article › peer-review

      26 Scopus citations
    • 2003

      Non-nucleoside Inhibitors of HIV-1 Reverse Transcriptase Inhibit Phosphorolysis and Resensitize the 3′-Azido-3′-deoxythymidine (AZT)-resistant Polymerase to AZT-5′-triphosphate

      Odriozola, L., Cruchaga, C., Andréola, M., Dollé, V., Nguyen, C. H., Tarrago-Litvak, L., Pérez-Mediavilla, A. & Martínez-Irujo, J. J., Oct 24 2003, In: Journal of Biological Chemistry. 278, 43, p. 42710-42716 7 p.

      Research output: Contribution to journal › Article › peer-review

      Open Access
      40 Scopus citations