Carlos Cruchaga

Ibanez, L., Dube, U., Davis, A. A., Fernandez, M. V., Budde, J., Cooper, B., Diez-Fairen, M., Ortega-Cubero, S., Pastor, P., Perlmutter, J. S., Cruchaga, C. & Benitez, B. A., Apr 10 2018, In: Frontiers in Neuroscience. 12, APR, 230.

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

Open Access

19 Scopus citations

Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms

the, Dominantly Inherited Alzheimer Network (DIAN), Disease Neuroimaging Initiative (ADNI), NIA-LOAD family study, Cruchaga, C., Fernandez, M. V., Ibanez, L., Holtzman, D. M., Fagan, A. M., Morris, J. C., Bateman, R. J. & Harari, O., Feb 2018, In: Alzheimer's and Dementia. 14, 2, p. 205-214 10 p.

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

Open Access

92 Scopus citations

Pooled-DNA target sequencing of Parkinson genes reveals novel phenotypic associations in Spanish population

Diez-Fairen, M., Benitez, B. A., Ortega-Cubero, S., Lorenzo-Betancor, O., Cruchaga, C., Lorenzo, E., Samaranch, L., Carcel, M., Obeso, J. A., Rodriguez-Oroz, M. C., Aguilar, M., Coria, F., Pastor, M. A. & Pastor, P., Oct 2018, In: Neurobiology of Aging. 70, p. 325.e1-325.e5

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

4 Scopus citations

Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study

Pottier, C., Zhou, X., Perkerson, R. B., Baker, M., Jenkins, G. D., Serie, D. J., Ghidoni, R., Benussi, L., Binetti, G., López de Munain, A., Zulaica, M., Moreno, F., Le Ber, I., Pasquier, F., Hannequin, D., Sánchez-Valle, R., Antonell, A., Lladó, A., Parsons, T. M. & Finch, N. C. A. & 113 others, Finger, E. C., Lippa, C. F., Huey, E. D., Neumann, M., Heutink, P., Synofzik, M., Wilke, C., Rissman, R. A., Slawek, J., Sitek, E., Johannsen, P., Nielsen, J. E., Ren, Y., van Blitterswijk, M., DeJesus-Hernandez, M., Christopher, E., Murray, M. E., Bieniek, K. F., Evers, B. M., Ferrari, C., Rollinson, S., Richardson, A., Scarpini, E., Fumagalli, G. G., Padovani, A., Hardy, J., Momeni, P., Ferrari, R., Frangipane, F., Maletta, R., Anfossi, M., Gallo, M., Petrucelli, L., Suh, E. R., Lopez, O. L., Wong, T. H., van Rooij, J. G. J., Seelaar, H., Mead, S., Caselli, R. J., Reiman, E. M., Noel Sabbagh, M., Kjolby, M., Nykjaer, A., Karydas, A. M., Boxer, A. L., Grinberg, L. T., Grafman, J., Spina, S., Oblak, A., Mesulam, M. M., Weintraub, S., Geula, C., Hodges, J. R., Piguet, O., Brooks, W. S., Irwin, D. J., Trojanowski, J. Q., Lee, E. B., Josephs, K. A., Parisi, J. E., Ertekin-Taner, N., Knopman, D. S., Nacmias, B., Piaceri, I., Bagnoli, S., Sorbi, S., Gearing, M., Glass, J., Beach, T. G., Black, S. E., Masellis, M., Rogaeva, E., Vonsattel, J. P., Honig, L. S., Kofler, J., Bruni, A. C., Snowden, J., Mann, D., Pickering-Brown, S., Diehl-Schmid, J., Winkelmann, J., Galimberti, D., Graff, C., Öijerstedt, L., Troakes, C., Al-Sarraj, S., Cruchaga, C., Cairns, N. J., Rohrer, J. D., Halliday, G. M., Kwok, J. B., van Swieten, J. C., White, C. L., Ghetti, B., Murell, J. R., Mackenzie, I. R. A., Hsiung, G. Y. R., Borroni, B., Rossi, G., Tagliavini, F., Wszolek, Z. K., Petersen, R. C., Bigio, E. H., Grossman, M., Van Deerlin, V. M., Seeley, W. W., Miller, B. L., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W., Biernacka, J. M. & Rademakers, R., Jun 2018, In: The Lancet Neurology. 17, 6, p. 548-558 11 p.

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

Open Access

94 Scopus citations

Sex-specific association of apolipoprotein e with cerebrospinal fluid levels of tau

Alzheimer's Disease Genetics Consortium and the Alzheimer's Disease Neuroimaging Initiative, Aug 1 2018, In: JAMA Neurology. 75, 8, p. 989-998 10 p.

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

Open Access

214 Scopus citations

Sex-specific genetic predictors of Alzheimer’s disease biomarkers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetics Consortium (ADGC), Dec 1 2018, In: Acta Neuropathologica. 136, 6, p. 857-872 16 p.

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

Open Access

78 Scopus citations

Utility of perfusion PET measures to assess neuronal injury in Alzheimer's disease

Dominantly Inherited Alzheimer Network, Jan 1 2018, In: Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 10, p. 669-677 9 p.

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

Open Access

20 Scopus citations

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease

The Alzheimer's Disease Sequencing Project, Apr 1 2018, In: Annals of Clinical and Translational Neurology. 5, 4, p. 406-417 12 p.

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

Open Access

35 Scopus citations

2017

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

Huang, K. L., Marcora, E., Pimenova, A. A., Di Narzo, A. F., Kapoor, M., Jin, S. C., Harari, O., Bertelsen, S., Fairfax, B. P., Czajkowski, J., Chouraki, V., Grenier-Boley, B., Bellenguez, C., Deming, Y., McKenzie, A., Raj, T., Renton, A. E., Budde, J., Smith, A. & Fitzpatrick, A. & 27 others, Bis, J. C., DeStefano, A., Adams, H. H. H., Ikram, M. A., Van Der Lee, S., Del-Aguila, J. L., Fernandez, M. V., Ibañez, L., Sims, R., Escott-Price, V., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Lambert, J. C., Van Duijn, C., Launer, L., Seshadri, S., Williams, J., Amouyel, P., Schellenberg, G. D., Zhang, B., Borecki, I., Kauwe, J. S. K., Cruchaga, C., Hao, K. & Goate, A. M., Aug 1 2017, In: Nature neuroscience. 20, 8, p. 1052-1061 10 p.

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

Open Access

269 Scopus citations

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

Haddick, P. C. G., Larson, J. L., Rathore, N., Bhangale, T. R., Phung, Q. T., Srinivasan, K., Hansen, D. V., Lill, J. R., Pericak-Vance, M. A., Haines, J., Farrer, L. A., Kauwe, J. S., Schellenberg, G. D., Cruchaga, C., Goate, A. M., Behrens, T. W., Watts, R. J., Graham, R. R., Kaminker, J. S. & Van Der Brug, M., 2017, In: Journal of Alzheimer's Disease. 56, 3, p. 1037-1054 18 p.

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

Open Access

42 Scopus citations

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease

NIA-LOAD family study group & NCRAD, Nov 2017, In: PLoS genetics. 13, 11, e1007045.

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

Open Access

27 Scopus citations

ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy

Alzheimer’s Disease Neuroimaging Initiative, Sep 28 2017, In: Nature. 549, 7673, p. 523-527 5 p.

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

Open Access

794 Scopus citations

Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants

Rehker, J., Rodhe, J., Nesbitt, R. R., Boyle, E. A., Martin, B. K., Lord, J., Karaca, I., Naj, A., Jessen, F., Helisalmi, S., Soininen, H., Hiltunen, M., Ramirez, A., Scherer, M., Farrer, L. A., Haines, J. L., Pericak-Vance, M. A., Raskind, W. H., Cruchaga, C. & Schellenberg, G. D. & 2 others, Joseph, B. & Brkanac, Z., Oct 2017, In: PloS one. 12, 10, e0185777.

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

Open Access

30 Scopus citations

CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN

Fardo, D. W., Katsumata, Y., Kauwe, J. S. K., Deming, Y., Harari, O., Cruchaga, C. & Nelson, P. T., Apr 1 2017, In: Experimental Gerontology. 90, p. 83-89 7 p.

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

Open Access

7 Scopus citations

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

The IFGC and IPDGC members, Feb 1 2017, In: Journal of Neurology, Neurosurgery and Psychiatry. 88, 2, p. 152-164 13 p.

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

Open Access

87 Scopus citations

Genome-wide, high-content siRNA screening identifies the Alzheimer’s genetic risk factor FERMT2 as a major modulator of APP metabolism

ADGC, Alzheimer’s Disease Neuroimaging Initiative, Jun 1 2017, In: Acta Neuropathologica. 133, 6, p. 955-966 12 p.

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

Open Access

43 Scopus citations

Genome-wide association study identifies four novel loci associated with Alzheimer’s endophenotypes and disease modifiers

Alzheimer’s Disease Neuroimaging Initiative (ADNI) & The Alzheimer Disease Genetic Consortium (ADGC), May 1 2017, In: Acta Neuropathologica. 133, 5, p. 839-856 18 p.

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

Open Access

160 Scopus citations

Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer's disease resilience

for the Alzheimer's Disease Neuroimaging Initative, Nov 29 2017, In: Genome medicine. 9, 1, 100.

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

Open Access

57 Scopus citations

Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels

Ibanez, L., Dube, U., Saef, B., Budde, J., Black, K., Medvedeva, A., Del-Aguila, J. L., Davis, A. A., Perlmutter, J. S., Harari, O., Benitez, B. A. & Cruchaga, C., Nov 15 2017, In: BMC Neurology. 17, 1, 198.

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

Open Access

51 Scopus citations

Polygenic risk scores in familial Alzheimer disease

Tosto, G., Bird, T. D., Tsuang, D., Bennett, D. A., Boeve, B. F., Cruchaga, C., Faber, K., Foroud, T. M., Farlow, M., Goate, A. M., Bertlesen, S., Graff-Radford, N. R., Medrano, M., Lantigua, R., Manly, J., Ottman, R., Rosenberg, R., Schaid, D. J., Schupf, N. & Stern, Y. & 2 others, Sweet, R. A. & Mayeux, R., Mar 21 2017, In: Neurology. 88, 12, p. 1180-1186 7 p.

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

Open Access

48 Scopus citations

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, R., Van Der Lee, S. J., Naj, A. C., Bellenguez, C., Badarinarayan, N., Jakobsdottir, J., Kunkle, B. W., Boland, A., Raybould, R., Bis, J. C., Martin, E. R., Grenier-Boley, B., Heilmann-Heimbach, S., Chouraki, V., Kuzma, A. B., Sleegers, K., Vronskaya, M., Ruiz, A., Graham, R. R. & Olaso, R. & 426 others, Hoffmann, P., Grove, M. L., Vardarajan, B. N., Hiltunen, M., Nöthen, M. M., White, C. C., Hamilton-Nelson, K. L., Epelbaum, J., Maier, W., Choi, S. H., Beecham, G. W., Dulary, C., Herms, S., Smith, A. V., Funk, C. C., Derbois, C., Forstner, A. J., Ahmad, S., Li, H., Bacq, D., Harold, D., Satizabal, C. L., Valladares, O., Squassina, A., Thomas, R., Brody, J. A., Qu, L., Sánchez-Juan, P., Morgan, T., Wolters, F. J., Zhao, Y., Garcia, F. S., Denning, N., Fornage, M., Malamon, J., Naranjo, M. C. D., Majounie, E., Mosley, T. H., Dombroski, B., Wallon, D., Lupton, M. K., Dupuis, J., Whitehead, P., Fratiglioni, L., Medway, C., Jian, X., Mukherjee, S., Keller, L., Brown, K., Lin, H., Cantwell, L. B., Panza, F., McGuinness, B., Moreno-Grau, S., Burgess, J. D., Solfrizzi, V., Proitsi, P., Adams, H. H., Allen, M., Seripa, D., Pastor, P., Cupples, L. A., Price, N. D., Hannequin, D., Frank-García, A., Levy, D., Chakrabarty, P., Caffarra, P., Giegling, I., Beiser, A. S., Giedraitis, V., Hampel, H., Garcia, M. E., Wang, X., Lannfelt, L., Mecocci, P., Eiriksdottir, G., Crane, P. K., Pasquier, F., Boccardi, V., Henández, I., Barber, R. C., Scherer, M., Tarraga, L., Adams, P. M., Leber, M., Chen, Y., Albert, M. S., Riedel-Heller, S., Emilsson, V., Beekly, D., Braae, A., Schmidt, R., Blacker, D., Masullo, C., Schmidt, H., Doody, R. S., Spalletta, G., Longstreth, W. T., Fairchild, T. J., Bossù, P., Lopez, O. L., Frosch, M. P., Sacchinelli, E., Ghetti, B., Yang, Q., Huebinger, R. M., Jessen, F., Li, S., Kamboh, M. I., Morris, J. C., Sotolongo-Grau, O., Katz, M. J., Corcoran, C., Dunstan, M., Braddel, A., Thomas, C., Meggy, A., Marshall, R., Gerrish, A., Chapman, J., Aguilar, M., Taylor, S., Hill, M., Fairén, M. D., Hodges, A., Vellas, B., Soininen, H., Kloszewska, I., Daniilidou, M., Uphill, J., Patel, Y., Hughes, J. T., Lord, J., Turton, J., Hartmann, A. M., Cecchetti, R., Fenoglio, C., Serpente, M., Arcaro, M., Caltagirone, C., Orfei, M. D., Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. G., Carrell, D., Sorbi, S., Moebus, S., Urbano, M., Pilotto, A., Kornhuber, J., Bosco, P., Todd, S., Craig, D., Johnston, J., Gill, M., Lawlor, B., Lynch, A., Fox, N. C., Hardy, J., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barnes, L. L., Barral, S., Beach, T. G., Becker, J. T., Bigio, E. H., Bird, T. D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Diaz, C. C., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., Decarli, C., Dick, M., Duara, R., Evans, D. A., Faber, K. M., Fallon, K. B., Fardo, D. W., Farlow, M. R., Ferris, S., Foroud, T. M., Galasko, D. R., Gearing, M., Geschwind, D. H., Gilbert, J. R., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hamilton, R. L., Harrell, L. E., Honig, L. S., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Abner, E., Jin, L. W., Jun, G., Karydas, A., Kaye, J. A., Kim, R., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lunetta, K. L., Lyketsos, C. G., 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., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Perry, W., Peskind, E., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Sager, M. A., Saykin, A. J., Schneider, J. A., Schneider, L. S., Seeley, W. W., Smith, A. G., Sonnen, J. A., Spina, S., Stern, R. A., Swerdlow, R. H., Tanzi, R. E., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Van Deerlin, V. M., Van Eldik, L. J., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Wilhelmsen, K. C., Williamson, J., Wingo, T. S., Woltjer, R. L., Wright, C. B., Yu, C. E., Yu, L., Garzia, F., Golamaully, F., Septier, G., Engelborghs, S., Vandenberghe, R., De Deyn, P. P., Fernadez, C. M., Benito, Y. A., Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R., Concari, L., Helisalmi, S., Koivisto, A. M., Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., Keene, C. D., Tschanz, J., Fitzpatrick, A. L., Kukull, W. A., Norton, M., Aspelund, T., Larson, E. B., Munger, R., Rotter, J. I., Lipton, R. B., Bullido, M. J., Hofman, A., Montine, T. J., Coto, E., Boerwinkle, E., Petersen, R. C., Alvarez, V., Rivadeneira, F., Reiman, E. M., Gallo, M., O'Donnell, C. J., Reisch, J. S., Bruni, A. C., Royall, D. R., Dichgans, M., Sano, M., Galimberti, D., St George-Hyslop, P., Scarpini, E., Tsuang, D. W., Mancuso, M., Bonuccelli, U., Winslow, A. R., Daniele, A., Wu, C. K., Peters, O., Nacmias, B., Riemenschneider, M., Heun, R., Brayne, C., Rubinsztein, D. C., Bras, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Uitterlinden, A. G., Uitterlinden, A. G., Cruchaga, C., Ingelsson, M., Bennett, D. A., Powell, J., Golde, T. E., Graff, C., De Jager, P. L., Morgan, K., Ertekin-Taner, N., Combarros, O., Psaty, B. M., Passmore, P., Younkin, S. G., Berr, C., Gudnason, V., Rujescu, D., Dickson, D. W., Dartigues, J. F., Destefano, A. L., Ortega-Cubero, S., Hakonarson, H., Campion, D., Boada, M., Kauwe, J. K., Farrer, L. A., Van Broeckhoven, C., Ikram, M. A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. F., Amin, N., Goate, A. M., Pericak-Vance, M. A., Holmans, P. A., Van Duijn, C. M., Ramirez, A., Wang, L. S., Lambert, J. C., Seshadri, S., Williams, J. & Schellenberg, G. D., Sep 1 2017, In: Nature Genetics. 49, 9, p. 1373-1384 12 p.

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

Open Access

654 Scopus citations

Susceptible genes and disease mechanisms identified in frontotemporal dementia and frontotemporal dementia with Amyotrophic Lateral Sclerosis by DNA-methylation and GWAS

Taskesen, E., Mishra, A., van der Sluis, S., Ferrari, R., Veldink, J. H., van Es, M. A., Smit, A. B., Posthuma, D., Pijnenburg, Y., Hernandez, D. G., Nalls, M. A., Rohrer, J. D., Ramasamy, A., Kwok, J. B. J., Dobson-Stone, C., Schofield, P. R., Halliday, G. M., Hodges, J. R., Piguet, O. & Bartley, L. & 142 others, Thompson, E., Haan, E., Hernández, I., Ruiz, A., Boada, M., Borroni, B., Padovani, A., Cruchaga, C., Cairns, N. J., Benussi, L., Binetti, G., Ghidoni, R., Forloni, G., Albani, D., 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., Van Broeckhoven, C., Cappa, S. F., Leber, 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., 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., Lebouvier, T., Kapogiannis, D., Ferrucci, L., Pickering-Brown, S., Singleton, A. B., Hardy, J. & Momeni, P., Dec 1 2017, In: Scientific reports. 7, 1, 8899.

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

Open Access

29 Scopus citations

TMEM230 in Parkinson's disease

Ibanez, L., Dube, U., Budde, J., Black, K., Medvedeva, A., Davis, A. A., Perlmutter, J. S., Benitez, B. A. & Cruchaga, C., Aug 2017, In: Neurobiology of Aging. 56, p. 212.e1-212.e3

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

Open Access

7 Scopus citations

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

Alzheimer's Disease Genetics Consortium, Jul 1 2017, In: Alzheimer's and Dementia. 13, 7, p. 727-738 12 p.

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

Open Access

131 Scopus citations

2016

ABCA7 p.G215S as potential protective factor for Alzheimer's disease

Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, J. R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Clement, N., Lord, J., Turton, J., Bras, J., Almeida, M. R., Passmore, P., Craig, D., Johnston, J. & McGuinness, B. & 29 others, Todd, S., Heun, R., Kölsch, H., Kehoe, P. G., Vardy, E. R. L. C., Hooper, N. M., Mann, D. M., Pickering-Brown, S., Brown, K., Lowe, J., Morgan, K., Smith, A. D., Wilcock, G., Warden, D., Holmes, C., Holstege, H., Louwersheimer, E., van der Flier, W. M., Scheltens, P., Van Swieten, J. C., Santana, I., Oliveira, C., Powell, J. F., Kauwe, J. S., Cruchaga, C., Goate, A. M., Singleton, A. B., Guerreiro, R. & Hardy, J., Oct 1 2016, In: Neurobiology of Aging. 46, p. 235.e1-235.e9

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

Open Access

44 Scopus citations

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

CHD Exome+ Consortium, CARDIOGRAM Exome Consortium & GERAD-EC Consortium, Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE), Jun 1 2016, In: Science translational medicine. 8, 341, 341ra76.

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Open Access

96 Scopus citations

Alzheimer's disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci

Alzheimer's Disease Genetics Consortium (ADGC), Feb 2016, In: PloS one. 11, 2, e0148717.

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

Open Access

82 Scopus citations

A novel Alzheimer disease locus located near the gene encoding tau protein

Jun, G., Ibrahim-Verbaas, C. A., Vronskaya, M., Lambert, J. C., Chung, J., Naj, A. C., Kunkle, B. W., Wang, L. S., Bis, J. C., Bellenguez, C., Harold, D., Lunetta, K. L., Destefano, A. L., Grenier-Boley, B., Sims, R., Beecham, G. W., Smith, A. V., Chouraki, V., Hamilton-Nelson, K. L. & Ikram, M. A. & 332 others, Fievet, N., Denning, N., Martin, E. R., Schmidt, H., Kamatani, Y., Dunstan, M. L., Valladares, O., Laza, A. R., Zelenika, D., Ramirez, A., Foroud, T. M., Choi, S. H., Boland, A., Becker, T., Kukull, W. A., Van Der Lee, S. J., Pasquier, F., Cruchaga, C., Beekly, D., Fitzpatrick, A. L., Hanon, O., Gill, M., Barber, R., Gudnason, V., Campion, D., Love, S., Bennett, D. A., Amin, N., Berr, C., Tsolaki, M., Buxbaum, J. D., Lopez, O. L., Deramecourt, V., Fox, N. C., Cantwell, L. B., Tárraga, L., Dufouil, C., Hardy, J., Crane, P. K., Eiriksdottir, G., Hannequin, D., Clarke, R., Evans, D., Mosley, T. H., Letenneur, L., Brayne, C., Maier, W., De Jager, P., Emilsson, V., Dartigues, J. F., Hampel, H., Kamboh, M. I., De Bruijn, R. F. A. G., Tzourio, C., Pastor, P., Larson, E. B., Rotter, J. I., O'Donovan, M. C., Montine, T. J., Nalls, M. A., Mead, S., Reiman, E. M., Jonsson, P. V., Holmes, C., St George-Hyslop, P. H., Boada, M., Passmore, P., Wendland, J. R., Schmidt, R., Morgan, K., Winslow, A. R., Powell, J. F., Carasquillo, M., Younkin, S. G., Jakobsdóttir, J., Kauwe, J. S. K., Wilhelmsen, K. C., Rujescu, D., Nöthen, M. M., Hofman, A., Jones, L., Haines, J. L., Psaty, B. M., Van Broeckhoven, C., Holmans, P., Launer, L. J., Mayeux, R., Lathrop, M., Goate, A. M., Escott-Price, V., Seshadri, S., Pericak-Vance, M. A., Amouyel, P., Williams, J., Van Duijn, C. M., Schellenberg, G. D., Farrer, L. A., Adams, P. M., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Baldwin, C. T., Barmada, M. M., Barnes, L. L., Beach, T. G., Bigio, E. H., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Burke, J. R., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Carroll, S. L., Chui, H. C., Clark, D. G., Corneveaux, J., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Yesim Demirci, F., Dick, M., Dickson, D. W., Doody, R. S., Duara, R., Ertekin-Taner, N., Faber, K. M., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Ferris, S., Frosch, M. P., Galasko, D. R., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Glass, J. D., Graff-Radford, N. R., Green, R. C., Growdon, J. H., Hakonarson, H., Hamilton, R. L., Harrell, L. E., Head, E., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. W., Karydas, A., Kaye, J. A., Kim, R., Koo, E. H., Kowall, N. W., Kramer, J. H., LaFerla, F. M., Lah, J. J., Leverenz, J. B., Levey, A. I., Li, G., Lieberman, A. P., Lin, C. F., Lyketsos, C. G., 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., Morris, J. C., Mukherjee, S., Murrell, J. R., Myers, A. J., O'Bryant, S., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Partch, A., Paulson, H. L., Perry, W., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Reisch, J. S., Reitz, C., Ringman, J. M., Roberson, E. D., Rogaeva, E., Rosen, H. J., Rosenberg, R. N., Royall, D. R., Sager, M. A., 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., Thornton-Wells, T. A., Trojanowski, J. Q., Troncoso, J. C., Tsuang, D. W., Van Deerlin, V. M., Van Eldik, L. J., Vardarajan, B. N., Vinters, H. V., Vonsattel, J. P., Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Wu, C. K., Yu, C. E., Yu, L., Thomas, C., Gerrish, A., Chapman, J., Stretton, A., Morgan, A., Oldham, H., Owen, M. J., Kehoe, P. G., Medway, C., Brown, K., Lord, J., Turton, J., Hooper, N. M., Vardy, E., Warren, J. D., Schott, J. M., Uphill, J., Hollingworth, P., Ryan, N., Rossor, M., Collinge, J., Ben-Shlomo, Y., Makrina, D., Gkatzima, O., Lupton, M., Koutroumani, M., Avramidou, D., Germanou, A., Jessen, F., Riedel-Heller, S., Dichgans, M., Heun, R., Kölsch, H., Schürmann, B., Herold, C., Lacour, A., Drichel, D., Hoffmann, P., Kornhuber, J., Gu, W., Feulner, T., Mayhaus, M., Pichler, S., Riemenschneider, M., van den Bussche, H., Lawlor, B., Lynch, A., Mann, D., Smith, A. D., Warden, D., Wilcock, G., Heuser, I., Wiltfang, J., Frölich, L., Hüll, M., 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., Russo, G., Jöckel, K. H., Moebus, S., Klopp, N., Wichmann, H. E., Ma, L., Bisceglio, G., Fisher, E., Warner, N., Pickering-Brown, S., Craig, D., Johnston, J. A., McGuinness, B., Todd, S., Rubinsztein, D. C., Lovestone, S., Bayer, A., Gallacher, J., Proitsi, P. & Ortega-Cubero, S., Jan 1 2016, In: Molecular Psychiatry. 21, 1, p. 108-117 10 p.

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

Open Access

188 Scopus citations

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis

Haller, G., Alvarado, D., Mccall, K., Yang, P., Cruchaga, C., Harms, M., Goate, A., Willing, M., Morcuende, J. A., Baschal, E., Miller, N. H., Wise, C., Dobbs, M. B. & Gurnett, C. A., Jan 1 2016, In: Human molecular genetics. 25, 1, p. 202-209 8 p.

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Open Access

59 Scopus citations

A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin

Deming, Y., Xia, J., Cai, Y., Lord, J., Holmans, P., Bertelsen, S., Holtzman, D., Morris, J. C., Bales, K., Pickering, E. H., Kauwe, J., Goate, A. & Cruchaga, C., Jan 1 2016, In: Neurobiology of Aging. 37, p. 208.e1-208.e9

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

Open Access

46 Scopus citations

Assessment of the genetic variance of late-onset Alzheimer's disease

Alzheimer's Disease Genetics Consortium (ADGC), May 1 2016, In: Neurobiology of Aging. 41, p. 200.e13-200.e20

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

Open Access

62 Scopus citations

Association between genetic traits for immune-mediated diseases and Alzheimer disease

Yokoyama, J. S., Wang, Y., Schork, A. J., Thompson, W. K., Karch, C. M., Cruchaga, C., McEvoy, L. K., Witoelar, A., Chen, C. H., Holland, D., Brewer, J. B., Franke, A., Dillon, W. P., Wilson, D. M., Mukherjee, P., Hess, C. P., Miller, Z., Bonham, L. W., Shen, J. & Rabinovici, G. D. & 8 others, Rosen, H. J., Miller, B. L., Hyman, B. T., Schellenberg, G. D., Karlsen, T. H., Andreassen, O. A., Dale, A. M. & Desikan, R. S., Jun 2016, In: JAMA Neurology. 73, 6, p. 691-697 7 p.

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Open Access

132 Scopus citations

BDNF Val66Met moderates memory impairment, hippocampal function and tau in preclinical autosomal dominant Alzheimer's disease

Lim, Y. Y., Hassenstab, J., Cruchaga, C., Goate, A., Fagan, A. M., Benzinger, T. L. S., Maruff, P., Snyder, P. J., Masters, C. L., Allegri, R., Chhatwal, J., Farlow, M. R., Graff-Radford, N. R., Laske, C., Levin, J., McDade, E., Ringman, J. M., Rossor, M., Salloway, S. & Schofield, P. R. & 3 others, Holtzman, D. M., Morris, J. C. & Bateman, R. J., Oct 1 2016, In: Brain. 139, 10, p. 2766-2777 12 p.

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Open Access

63 Scopus citations

Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status

Piccio, L., Deming, Y., Del-Águila, J. L., Ghezzi, L., Holtzman, D. M., Fagan, A. M., Fenoglio, C., Galimberti, D., Borroni, B. & Cruchaga, C., Jun 1 2016, In: Acta Neuropathologica. 131, 6, p. 925-933 9 p.

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

Open Access

264 Scopus citations

Chitinase-3-like 1 protein (CHI3L1) locus influences cerebrospinal fluid levels of YKL-40

Deming, Y., Black, K., Carrell, D., Cai, Y., Del-Aguila, J. L., Fernandez, M. V., Budde, J., Ma, S. M., Saef, B., Howells, B., Bertelsen, S., Huang, K. L., Sutphen, C. L., Tarawneh, R., Fagan, A. M., Holtzman, D. M., Morris, J. C., Goate, A. M., Dougherty, J. D. & Cruchaga, C., Nov 10 2016, In: BMC Neurology. 16, 1, 217.

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Open Access

11 Scopus citations

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

Deming, Y., Xia, J., Cai, Y., Lord, J., Del-Aguila, J. L., Fernandez, M. V., Carrell, D., Black, K., Budde, J., Ma, S., Saef, B., Howells, B., Bertelsen, S., Bailey, M., Ridge, P. G., Holtzman, D., Morris, J. C., Bales, K., Pickering, E. H. & Lee, J. M. & 5 others, Heitsch, L., Kauwe, J., Goate, A., Piccio, L. & Cruchaga, C., Jan 4 2016, In: Scientific reports. 6, 18092.

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

Open Access

20 Scopus citations

Identification of plexin A4 as a novel clusterin receptor links two Alzheimer's disease risk genes

Kang, S. S., Kurti, A., Wojtas, A., Baker, K. E., Liu, C. C., Kanekiyo, T., Deming, Y., Cruchaga, C., Estus, S., Bu, G. & Fryer, J. D., Aug 15 2016, In: Human molecular genetics. 25, 16, p. 3467-3475 9 p.

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Open Access

21 Scopus citations

Influence of coding variability in APP-Aβ metabolism genes in sporadic Alzheimer's disease

Sassi, C., Ridge, P. G., Nalls, M. A., Gibbs, R., Ding, J., Lupton, M. K., Troakes, C., Lunnon, K., Al-Sarraj, S., Brown, K. S., Medway, C., Lord, J., Turton, J., Morgan, K., Powell, J. F., Kauwe, J. S., Cruchaga, C., Bras, J., Goate, A. M. & Singleton, A. B. & 18 others, Guerreiro, R., Hardy, J., 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., Lowe, J., David Smith, A., Wilcock, G., Warden, D. & Holmes, C., Jun 2016, In: PloS one. 11, 6, e0150079.

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

Open Access

28 Scopus citations

Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms

Kober, D. L., Alexander-Brett, J. M., Karch, C. M., Cruchaga, C., Colonna, M., Holtzman, M. J. & Brett, T. J., Dec 20 2016, In: eLife. 5, DECEMBER2016, e20391.

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

Open Access

145 Scopus citations

Phenotypic similarities between late-onset Autosomal dominant and sporadic Alzheimer disease a single-family case-control study

Day, G. S., Musiek, E. S., Roe, C. M., Norton, J., Goate, A. M., Cruchaga, C., Cairns, N. J. & Morris, J. C., Sep 1 2016, In: JAMA Neurology. 73, 9, p. 1125-1132 8 p.

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Open Access

18 Scopus citations

Pooled-DNA sequencing for elucidating new genomic risk factors, rare variants underlying Alzheimer’s disease

Jin, S. C., Benitez, B. A., Deming, Y. & Cruchaga, C., 2016, In: Methods in Molecular Biology. 1303, p. 299-314 16 p.

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

4 Scopus citations

Resequencing analysis of five Mendelian genes and the top genes from genome-wide association studies in Parkinson's Disease

Benitez, B. A., Davis, A. A., Jin, S. C., Ibanez, L., Ortega-Cubero, S., Pastor, P., Choi, J., Cooper, B., Perlmutter, J. S. & Cruchaga, C., Apr 19 2016, In: Molecular neurodegeneration. 11, 1, 97.

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

Open Access

56 Scopus citations

Shared genetic contribution to ischemic stroke and Alzheimer's disease

Traylor, M., Adib-Samii, P., Harold, D., Dichgans, M., Williams, J., Lewis, C. M., Markus, H. S., Fornage, M., Holliday, E. G., Sharma, P., Bis, J. C., Psaty, B. M., Seshadri, S., Nalls, M. A., Devan, W. J., Boncoraglio, G., Malik, R., Mitchell, B. D., Kittner, S. J. & Ikram, M. A. & 188 others, Clarke, R., Rosand, J., Meschia, J. F., Sudlow, C., Rothwell, P. M., Levi, C., Bevan, S., Kilarski, L. L., Walters, M., Thijs, V., Slowik, A., Lindgren, A., De Bakker, P. I. W., Lambert, J. C., Ibrahim-Verbaas, C. A., Naj, A. C., Sims, R., Bellenguez, C., Jun, G., Destefano, A. L., Beecham, G. W., Grenier-Boley, B., Russo, G., Thornton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Zelenika, D., Vardarajan, B. N., Kamatani, Y., Lin, C. F., Gerrish, A., Schmidt, H., Kunkle, B., Dunstan, M. L., Ruiz, A., Bihoreau, M. T., Choi, S. H., Reitz, C., Pasquier, F., Hollingworth, P., Ramirez, A., Hanon, O., Fitzpatrick, A. L., Buxbaum, J. D., Campion, D., Crane, P. K., Baldwin, C., Becker, 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., Morón, F. J., Rubinsztein, D. C., Eiriksdottir, G., Sleegers, K., Goate, A. M., Fiçvet, N., Huentelman, M. J., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuinness, B., Larson, E. B., Green, R., 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., Deniz Naranjo, M. C., Bosco, P., Brayne, C., Galimberti, D., Mancuso, M., Matthews, F., Moebus, S., Mecocci, P., Del Zompo, M., Maier, W., Hampel, H., Pilotto, A., Bullido, M., Panza, F., Caffarra, P., Nacmias, B., Gilbert, J. R., 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., Wang, L. S., Dartigues, J. F., Mayeux, R., Tzourio, C., Hofman, A., Nöthen, M. M., Graff, C., Jones, L., Haines, J. L., Holmans, P. A., Lathrop, M., Pericak-Vance, M. A., Launer, L. J., Farrer, L. A., Van Duijn, C. M., Van Broeckhoven, C., Moskvina, V., Schellenberg, G. D. & Amouyel, P., May 1 2016, In: Annals of neurology. 79, 5, p. 739-747 9 p.

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Open Access

53 Scopus citations

SORL1 variants across Alzheimer's disease European American cohorts

Fernández, M. V., Black, K., Carrell, D., Saef, B., Budde, J., Deming, Y., Howells, B., Del-Aguila, J. L., Ma, S., Bi, C., Norton, J., Chasse, R., Morris, J., Goate, A. & Cruchaga, C., Dec 1 2016, In: European Journal of Human Genetics. 24, 12, p. 1828-1830 3 p.

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Open Access

15 Scopus citations

The role of cardiovascular risk factors and stroke in familial Alzheimer disease

Tosto, G., Bird, T. D., Bennett, D. A., Boeve, B. F., Brickman, A. M., Cruchaga, C., Faber, K., Foroud, T. M., Farlow, M., Goate, A. M., Graff-Radford, N. R., Lantigua, R., Manly, J., Ottman, R., Rosenberg, R., Schaid, D. J., Schupf, N., Stern, Y., Sweet, R. A. & Mayeux, R., Oct 1 2016, In: JAMA Neurology. 73, 10, p. 1231-1237 7 p.

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

Open Access

45 Scopus citations

TYROBP genetic variants in early-onset Alzheimer's disease

Pottier, C., Ravenscroft, T. A., Brown, P. H., Finch, N. C. A., Baker, M., Parsons, M., Asmann, Y. W., Ren, Y., Christopher, E., Levitch, D., van Blitterswijk, M., Cruchaga, C., Campion, D., Nicolas, G., Richard, A. C., Guerreiro, R., Bras, J. T., Zuchner, S., Gonzalez, M. A. & Bu, G. & 10 others, Younkin, S., Knopman, D. S., Josephs, K. A., Parisi, J. E., Petersen, R. C., Ertekin-Taner, N., Graff-Radford, N. R., Boeve, B. F., Dickson, D. W. & Rademakers, R., Dec 1 2016, In: Neurobiology of Aging. 48, p. 222.e9-222.e15

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

Open Access

74 Scopus citations

Carlos Cruchaga

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