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  • 2014

    Frontotemporal dementia and its subtypes: A genome-wide association study

    Ferrari, R., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Brooks William S., B. S., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O., Bartley, L., Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A. & 138 others, Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Galimberti, D., Fenoglio, C., Serpente, M., Scarpini, E., Clarimón, J., Lleó, A., Blesa, R., Waldö, M. L., Nilsson, K., Nilsson, C., Mackenzie, I. R. A., Hsiung, G. Y. R., Mann, D. M. A., Grafman, J., Morris, C. M., Attems, J., Griffiths, T. D., McKeith, I. G., Thomas, A. J., Pietrini, P., Huey, E. D., Wassermann, E. M., Baborie, A., Jaros, E., Tierney, M. C., Pastor, P., Razquin, C., Ortega-Cubero, S., Alonso, E., Perneczky, R., Diehl-Schmid, J., Alexopoulos, P., Kurz, A., Rainero, I., Rubino, E., Pinessi, L., Rogaeva, E., St George-Hyslop, P., Rossi, G., Tagliavini, F., Giaccone, G., Rowe, J. B., Schlachetzki, J. C. M., Uphill, J., Collinge, J., Mead, S., Danek, A., Van Deerlin, V. M., Grossman, M., Trojanowski, J. Q., Van der Zee, J., Deschamps, W., Van Langenhove, T., Cruts, M., Van Broeckhoven, C., Cappa, S. F., Le Ber, I., Hannequin, D., Golfier, V., Vercelletto, M., Brice, A., Nacmias, B., Sorbi, S., Bagnoli, S., Piaceri, I., Nielsen, J. E., Hjermind, L. E., Riemenschneider, M., Mayhaus, M., Ibach, B., Gasparoni, G., Pichler, S., Gu, W., Rossor, M. N., Fox, N. C., Warren, J. D., Spillantini, M. G., Morris, H. R., Rizzu, P., Heutink, P., Snowden, J. S., Rollinson, S., Richardson, A., Gerhard, A., Bruni, A. C., Maletta, R., Frangipane, F., Cupidi, C., Bernardi, L., Anfossi, M., Gallo, M., Conidi, M. E., Smirne, N., Rademakers, R., Baker, M., Dickson, D. W., Graff-Radford, N. R., Petersen, R. C., Knopman, D., Josephs, K. A., Boeve, B. F., Parisi, J. E., Seeley, W. W., Miller, B. L., Karydas, A. M., Rosen, H., van Swieten, J. C., Dopper, E. G. P., Seelaar, H., Pijnenburg, Y. A. L., Scheltens, P., Logroscino, G., Capozzo, R., Novelli, V., Puca, A. A., Franceschi, M., Postiglione, A., Milan, G., Sorrentino, P., Kristiansen, M., Chiang, H. H., Graff, C., Pasquier, F., Rollin, A., Deramecourt, V., Lebert, F., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Jul 2014, In: The Lancet Neurology. 13, 7, p. 686-699 14 p.

    Research output: Contribution to journalArticlepeer-review

    140 Scopus citations
  • Genetic Predisposition to Increased Blood Cholesterol and Triglyceride Lipid Levels and Risk of Alzheimer Disease: A Mendelian Randomization Analysis

    Proitsi, P., Lupton, M. K., Velayudhan, L., Newhouse, S., Fogh, I., Tsolaki, M., Daniilidou, M., Pritchard, M., Kloszewska, I., Soininen, H., Mecocci, P., Vellas, B., Williams, J., Harold, D., Sims, R., Gerrish, A., Chapman, J., Escott-Price, V., Abraham, R., Hollingworth, P. & 74 others, Hamshere, M., Singh Pahwa, J., Dowzell, K., Williams, A., Jones, N., Thomas, C., Stretton, A., Morgan, A., Williams, K., Lovestone, S., Powell, J. F., Proitsi, P., Lupton, M. K., Brayne, C., Rubinsztein, D. C., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K., Passmore, P., Craig, D., Mcguinness, B., Johnston, J. A., Todd, S., Holmes, C., Mann, D., Smith, A. D., Love, S., Kehoe, P. G., Hardy, J., Guerreiro, R., Singleton, A., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Heun, R., Schürmann, B., Ramirez, A., Becker, T., Herold, C., Lacour, A., Drichel, D., Van Den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A., 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., Nöthen, M. M., Holmans, P., O'donovan, M., Owen, M. J., Williams, J., Stewart, R. & Sham, P., Sep 1 2014, In: PLoS medicine. 11, 9

    Research output: Contribution to journalArticlepeer-review

    Open Access
    36 Scopus citations
  • Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease

    Shannon, B., Soto-Ortolaza, A., Rayaprolu, S., Cannon, H. D., Labbé, C., Benitez, B. A., Choi, J., Lynch, T., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Van Gerpen, J. A., Uitti, R. J., Springer, W., Cruchaga, C., Wszolek, Z. K. & Ross, O. A., Aug 2014, In: Neurobiology of Aging. 35, 8, p. 1958.e1-1958.e2

    Research output: Contribution to journalArticlepeer-review

    15 Scopus citations
  • Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

    Escott-Price, V., Bellenguez, C., Wang, L. S., Choi, S. H., Harold, D., Jones, L., Holmans, P., Gerrish, A., Vedernikov, A., Richards, A., DeStefano, A. L., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Jun, G., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G. & 167 others, Thornton-Wells, T. A., Denning, N., Smith, A. V., Chouraki, V., Thomas, C., Arfan Ikram, M., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Schmidt, H., Kunkle, B., Dunstan, M. L., Vronskaya, M., Johnson, A. D., Ruiz, A., Bihoreau, M. T., Reitz, C., Pasquier, F., Hollingworth, P., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Becker, C. B. T., Gudnason, V., Cruchaga, C., Craig, D., Amin, N., Berr, C., Lopez, O. L., De Jager, P. L., Deramecourt, V., Johnston, J. A., Evans, D., Lovestone, S., Letenneur, L., Hernández, I., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiévet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Myers, A. J., Dufouil, C., Todd, S., Wallon, D., Love, S., Rogaeva, E., Gallacher, J., St George-Hyslop, P., Clarimon, J., Lleo, A., Bayer, A., Tsuang, D. W., Yu, L., Tsolaki, M., Bossù, P., Spalletta, G., Proitsi, P., Collinge, J., Sorbi, S., Sanchez Garcia, F., Fox, N. C., Hardy, J., Naranjo, M. C. D., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Scarpini, E., Bonuccelli, U., Mancuso, M., Siciliano, G., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Frank-García, A., Panza, F., Solfrizzi, V., Caffarra, P., Nacmias, B., Perry, W., Mayhaus, M., Lannfelt, L., Hakonarson, H., Pichler, S., Carrasquillo, M. M., Ingelsson, M., Beekly, D., Alvarez, V., Zou, F., Valladares, O., Younkin, S. G., Coto, E., Hamilton-Nelson, K. L., Gu, W., Razquin, C., Pastor, P., Mateo, I., Owen, M. J., Faber, K. M., Jonsson, P. V., Combarros, O., O'Donovan, M. C., Cantwell, L. B., Soininen, H., Blacker, D., Mead, S., Mosley, T. H., Bennett, D. A., Harris, T. B., Fratiglioni, L., Holmes, C., De Bruijn, R. F. A. G., Passmore, P., Montine, T. J., Bettens, K., Rotter, J. I., Brice, A., Morgan, K., Foroud, T. M., Kukull, W. A., Hannequin, D., Powell, J. F., Nalls, M. A., Ritchie, K., Lunetta, K. L., Kauwe, J. S. K., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltunen, M., Martin, E. R., Schmidt, R., Rujescu, D., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Psaty, B. M., Haines, J. L., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Van Broeckhoven, C., Farrer, L. A., Van Duijn, C. M., Ramirez, A., Seshadri, S., Schellenberg, G. D., Amouyel, P. & Williams, J., Jun 12 2014, In: PloS one. 9, 6, e94661.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    64 Scopus citations
  • Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation

    Kauwe, J. S. K., Bailey, M. H., Ridge, P. G., Perry, R., Wadsworth, M. E., Hoyt, K. L., Staley, L. A., Karch, C. M., Harari, O., Cruchaga, C., Ainscough, B. J., Bales, K., Pickering, E. H., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Oct 1 2014, In: PLoS genetics. 10, 10

    Research output: Contribution to journalArticlepeer-review

    Open Access
    58 Scopus citations
  • Identification of rare variants in Alzheimer's disease

    Lord, J., Lu, A. J. & Cruchaga, C., 2014, In: Frontiers in Genetics. 5, OCT, 369.

    Research output: Contribution to journalReview articlepeer-review

    Open Access
    22 Scopus citations
  • Missense variant in TREML2 protects against Alzheimer's disease

    Benitez, B. A., Jin, S. C., Guerreiro, R., Graham, R., Lord, J., Harold, D., Sims, R., Lambert, J. C., Gibbs, J. R., Bras, J., Sassi, C., Harari, O., Bertelsen, S., Lupton, M. K., Powell, J., Bellenguez, C., Brown, K., Medway, C., Haddick, P. C. G., Van der Brug, M. P. & 22 others, Bhangale, T., Ortmann, W., Behrens, T., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Haines, J. L., Turton, J., Braae, A., Barber, I., Fagan, A. M., Holtzman, D. M., Morris, J. C., Williams, J., Kauwe, J. S. K., Amouyel, P., Morgan, K., Singleton, A., Hardy, J., Goate, A. M. & Cruchaga, C., Jun 2014, In: Neurobiology of Aging. 35, 6, p. 1510.e19-1510.e26

    Research output: Contribution to journalArticlepeer-review

    Open Access
    76 Scopus citations
  • Phosphorylated tau-Aβ42 ratio as a continuous trait for biomarker discovery for early-stage Alzheimer's disease in multiplex immunoassay panels of cerebrospinal fluid

    Harari, O., Cruchaga, C., Kauwe, J. S. K., Ainscough, B. J., Bales, K., Pickering, E. H., Bertelsen, S., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., May 1 2014, In: Biological Psychiatry. 75, 9, p. 723-731 9 p.

    Research output: Contribution to journalArticlepeer-review

    45 Scopus citations
  • Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease

    Cruchaga, C., Karch, C. M., Jin, S. C., Benitez, B. A., Cai, Y., Guerreiro, R., Harari, O., Norton, J., Budde, J., Bertelsen, S., Jeng, A. T., Cooper, B., Skorupa, T., Carrell, D., Levitch, D., Hsu, S., Choi, J., Ryten, M., Hardy, J., Trabzuni, D. & 60 others, Weale, M. E., Ramasamy, A., Smith, C., Sassi, C., Bras, J., Gibbs, J. R., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., Demirci, F. Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Passmore, P., Craig, D., Johnston, J., McGuinness, B., Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Hooper, N. M., Vardy, E. R. L. C., Mann, D. M., Pickering-Brown, S., Kalsheker, N., Lowe, J., Morgan, K., David Smith, A., Wilcock, G., Warden, D., Holmes, C., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Rogaeva, E., Singleton, A. B., Kamboh, M. I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K. & Goate, A. M., 2014, In: Nature. 505, 7484, p. 550-554 5 p.

    Research output: Contribution to journalArticlepeer-review

    283 Scopus citations
  • Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis

    Buchan, J. G., Alvarado, D. M., Haller, G. E., Cruchaga, C., Harms, M. B., Zhang, T., Willing, M. C., Grange, D. K., Braverman, A. C., Miller, N. H., Morcuende, J. A., Tang, N. L. E. S., Lam, T. P., Ng, B. K. I. W., Cheng, J. C. H. Y., Dobbs, M. B. & Gurnett, C. A., Oct 1 2014, In: Human molecular genetics. 23, 19, p. 5271-5282 12 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    52 Scopus citations
  • SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease

    International Genomics of Alzheimer's Project (IGAP) & Alzheimer's Disease Neuroimaging Initiative (ADNI), Dec 15 2014, In: Human molecular genetics. 23, 24, p. 6644-6658 15 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    27 Scopus citations
  • The epigenetic landscape of Alzheimer's disease

    Lord, J. & Cruchaga, C., Sep 2014, In: Nature neuroscience. 17, 9, p. 1138-1140 3 p.

    Research output: Contribution to journalComment/debate

    59 Scopus citations
  • TMEM106B: A strong FTLD disease modifier

    Deming, Y. & Cruchaga, C., Mar 2014, In: Acta Neuropathologica. 127, 3, p. 419-422 4 p.

    Research output: Contribution to journalComment/debate

    13 Scopus citations
  • TREM2 variant p.R47H as a risk factor for sporadic amyotrophic lateral sclerosis

    Cady, J., Koval, E. D., Benitez, B. A., Zaidman, C., Jockel-Balsarotti, J., Allred, P., Baloh, R. H., Ravits, J., Simpson, E., Appel, S. H., Pestronk, A., Goate, A. M., Miller, T. M., Cruchaga, C. & Harms, M. B., Apr 2014, In: JAMA Neurology. 71, 4, p. 449-453 5 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    154 Scopus citations
  • 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., Welsh-Bohmer, K. A., Lyketsos, C., Tschanz, J. & Kauwe, J. S. K., May 2014, In: Alzheimer's and Dementia. 10, 3, p. 366-371 6 p.

    Research output: Contribution to journalArticlepeer-review

    19 Scopus citations
  • 2013

    C9orf72 hexanucleotide repeat expansions in clinical alzheimer disease

    Harms, M., Benitez, B. A., Cairns, N., Cooper, B., Cooper, P., Mayo, K., Carrell, D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., Boeve, B. F., Graff-Radford, N. R., Mayeux, R., Chakraverty, S., Goate, A. M. & Cruchaga, C., Jun 2013, In: JAMA Neurology. 70, 6, p. 736-741 6 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    67 Scopus citations
  • Characterizing the Role of Brain Derived Neurotrophic Factor Genetic Variation in Alzheimer's Disease Neurodegeneration

    Honea, R. A., Cruchaga, C., Perea, R. D., Saykin, A. J., Burns, J. M., Weinberger, D. R. & Goate, A. M., Sep 26 2013, In: PloS one. 8, 9, e76001.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    39 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., Singh Pahwa, J., 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. & 66 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., 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, D. 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., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J. & Williams, J., Jun 2013, In: Nature Genetics. 45, 6, p. 712 1 p.

    Research output: Contribution to journalComment/debate

    Open Access
    6 Scopus citations
  • Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis

    Anasagasti, A., Barandika, O., Irigoyen, C., Benitez, B. A., Cooper, B., Cruchaga, C., López de Munain, A. & Ruiz-Ederra, J., Nov 2013, In: Experimental eye research. 116, p. 386-394 9 p.

    Research output: Contribution to journalArticlepeer-review

    13 Scopus citations
  • GWAS of cerebrospinal fluid tau levels identifies risk variants for alzheimer's disease

    Cruchaga, C., Kauwe, J. S. K., Harari, O., Jin, S. C., Cai, Y., Karch, C. M., Benitez, B. A., Jeng, A. T., Skorupa, T., Carrell, D., Bertelsen, S., Bailey, M., McKean, D., Shulman, J. M., De Jager, P. L., Chibnik, L., Bennett, D. A., Arnold, S. E., Harold, D., Sims, R. & 17 others, Gerrish, A., Williams, J., Van Deerlin, V. M., Lee, V. M. Y., Shaw, L. M., Trojanowski, J. Q., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Peskind, E. R., Galasko, D., Fagan, A. M., Holtzman, D. M., Morris, J. C. & Goate, A. M., Apr 24 2013, In: Neuron. 78, 2, p. 256-268 13 p.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    199 Scopus citations
  • Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

    Harms, M. B., Cady, J., Zaidman, C., Cooper, P., Bali, T., Allred, P., Cruchaga, C., Baughn, M., Libby, R. T., Pestronk, A., Goate, A., Ravits, J. & Baloh, R. H., Sep 2013, In: Neurobiology of Aging. 34, 9, p. 2234.e13-2234.e19

    Research output: Contribution to journalArticlepeer-review

    52 Scopus citations
  • Linking Protective GAB2 Variants, Increased Cortical GAB2 Expression and Decreased Alzheimer's Disease Pathology

    Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, May 28 2013, In: PloS one. 8, 5, e64802.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    11 Scopus citations
  • Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Lambert, J. C., Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., DeStefano, A. L., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., Zelenika, D., Vardarajan, B. N. & 162 others, Kamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Fiévet, N., Amouyel, P., Pasquier, F., Deramecourt, V., De Bruijn, R. F. A. G., Amin, N., Hofman, A., Van Duijn, C. M., Dunstan, M. L., Hollingworth, P., Owen, M. J., O'Donovan, M. C., Jones, L., Holmans, P. A., Moskvina, V., Williams, J., Baldwin, C., Farrer, L. A., Choi, S. H., Lunetta, K. L., Fitzpatrick, A. L., Harris, T. B., Psaty, B. M., Gilbert, J. R., Hamilton-Nelson, K. L., Martin, E. R., Pericak-Vance, M. A., Haines, J. L., Gudnason, V., Jonsson, P. V., Eiriksdottir, G., Bihoreau, M. T., Lathrop, M., Valladares, O., Cantwell, L. B., Wang, L. S., Schellenberg, G. D., Ruiz, A., Boada, M., Reitz, C., Mayeux, R., Ramirez, A., Maier, W., Hanon, O., Kukull, W. A., Buxbaum, J. D., Campion, D., Wallon, D., Hannequin, D., Crane, P. K., Larson, E. B., Becker, T., Cruchaga, C., Goate, A. M., Craig, D., Johnston, J. A., Mc-Guinness, B., Todd, S., Passmore, P., Berr, C., Ritchie, K., Lopez, O. L., De Jager, P. L., Evans, D., Lovestone, S., Proitsi, P., Powell, J. F., Letenneur, L., Barberger-Gateau, P., Dufouil, C., Dartigues, J. F., Morón, F. J., Rubinsztein, D. C., St. George-Hyslop, P., Sleegers, K., Bettens, K., Van Broeckhoven, C., Huentelman, M. J., Gill, M., Brown, K., Morgan, K., Kamboh, M. I., Keller, L., Fratiglioni, L., Green, R., Myers, A. J., Love, S., Rogaeva, E., Gallacher, J., Bayer, A., Clarimon, J., Lleo, A., Tsuang, D. W., Yu, L., Bennett, D. A., Tsolaki, M., Bossù, P., Spalletta, G., Collinge, J., Mead, S., Sorbi, S., Nacmias, B., Sanchez-Garcia, F., Deniz Naranjo, M. C., Fox, N. C., Hardy, J., Bosco, P., Clarke, R., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Mayhaus, M., Pichler, S., Gu, W., Riemenschneider, M., Lannfelt, L., Ingelsson, M., Hakonarson, H., Carrasquillo, M. M., Zou, F., Younkin, S. G., Beekly, D., Alvarez, V., Coto, E., Razquin, C., Pastor, P., Mateo, I., Combarros, O., Faber, K. M., Foroud, T. M., Soininen, H., Hiltunen, M., Blacker, D., Mosley, T. H., Graff, C., Holmes, C., Montine, T. J., Rotter, J. I., Brice, A., Nalls, M. A., Kauwe, J. S. K., Boerwinkle, E., Schmidt, R., Rujescu, D., Tzourio, C., Nöthen, M. M., Launer, L. J. & Seshadri, S., Dec 1 2013, In: Nature Genetics. 45, 12, p. 1452-1458 7 p.

    Research output: Contribution to journalArticlepeer-review

    1924 Scopus citations
  • Novel progranulin variants do not disrupt progranulin secretion and cleavage

    Karch, C. M., Jeng, A. T., Skorupa, T., Cruchaga, C. & Goate, A. M., Nov 2013, In: Neurobiology of Aging. 34, 11, p. 2538-2540 3 p.

    Research output: Contribution to journalArticlepeer-review

    5 Scopus citations
  • Parkinson disease is not associated with C9ORF72 repeat expansions

    Harms, M. B., Neumann, D., Benitez, B. A., Cooper, B., Carrell, D., Racette, B. A., Perlmutter, J. S., Goate, A. & Cruchaga, C., May 2013, In: Neurobiology of Aging. 34, 5, p. 1519.e1-1519.e2

    Research output: Contribution to journalArticlepeer-review

    33 Scopus citations
  • 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 journalArticlepeer-review

    Open Access
    41 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 journalLetterpeer-review

    57 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 journalArticlepeer-review

    104 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 journalArticlepeer-review

    1398 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 journalArticlepeer-review

    Open Access
    127 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 journalArticlepeer-review

    174 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., Aug 2012, In: Human molecular genetics. 21, 15, p. 3500-3512 13 p.

    Research output: Contribution to journalArticlepeer-review

    148 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 journalArticlepeer-review

    Open Access
    176 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 journalArticlepeer-review

    Open Access
    40 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 journalArticlepeer-review

    Open Access
    70 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. NIA-LOAD. . NCRAD. F. S. C., Feb 1 2012, In: PloS one. 7, 2, e31039.

    Research output: Contribution to journalArticlepeer-review

    Open Access
    185 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 journalArticlepeer-review

    Open Access
    49 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 journalArticlepeer-review

    Open Access
    83 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 journalArticlepeer-review

    Open Access
    102 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 journalArticlepeer-review

    1200 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 journalArticlepeer-review

    1204 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 journalArticlepeer-review

    20 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 journalArticlepeer-review

    Open Access
    69 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 journalArticlepeer-review

    Open Access
    53 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 journalArticlepeer-review

    632 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 journalArticlepeer-review

    Open Access
    242 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 journalArticlepeer-review

    Open Access
    58 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 journalArticlepeer-review

    Open Access
    83 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 journalArticlepeer-review

    43 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 journalArticlepeer-review

    40 Scopus citations