Biblio

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F. Zou, Chai, H. Seng, Younkin, C. S., Allen, M., Crook, J., V Pankratz, S., Carrasquillo, M. M., Rowley, C. N., Nair, A. A., Middha, S., Maharjan, S., Nguyen, T., Ma, L., Malphrus, K. G., Palusak, R., Lincoln, S., Bisceglio, G., Georgescu, C., Kouri, N., Kolbert, C. P., Jen, J., Haines, J. L., Mayeux, R., Pericak-Vance, M. A., Farrer, L. A., Schellenberg, G. D., Petersen, R. C., Graff-Radford, N. R., Dickson, D. W., Younkin, S. G., and Ertekin-Taner, N., “Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.”, PLoS Genet, vol. 8, no. 6, p. e1002707, 2012.

H. Zhu, Gopalraj, R. K., Kelly, J. F., Bennett, D. A., and Estus, S., “Lack of genetic association of cholesteryl ester transfer protein polymorphisms with late onset Alzheimers disease.”, Neurosci Lett, vol. 381, no. 1-2, pp. 36-41, 2005.

B. Zhang, Gaiteri, C., Bodea, L. - G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., Fluder, E., Clurman, B., Melquist, S., Narayanan, M., Suver, C., Shah, H., Mahajan, M., Gillis, T., Mysore, J., MacDonald, M. E., Lamb, J. R., Bennett, D. A., Molony, C., Stone, D. J., Gudnason, V., Myers, A. J., Schadt, E. E., Neumann, H., Zhu, J., and Emilsson, V., “Integrated systems approach identifies genetic nodes and networks in late-onset Alzheimer's disease.”, Cell, vol. 153, no. 3, pp. 707-20, 2013.

P. - T. Xu, Li, Y. - J., Qin, X. - J., Scherzer, C. R., Xu, H., Schmechel, D. E., Hulette, C. M., Ervin, J., Gullans, S. R., Haines, J., Pericak-Vance, M. A., and Gilbert, J. R., “Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease.”, Neurobiol Dis, vol. 21, no. 2, pp. 256-75, 2006.

J. A. Webster, J Gibbs, R., Clarke, J., Ray, M., Zhang, W., Holmans, P., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., McCorquodale, D. S., Cuello, C., Leung, D., Bryden, L., Nath, P., Zismann, V. L., Joshipura, K., Huentelman, M. J., Hu-Lince, D., Coon, K. D., Craig, D. W., Pearson, J. V., Heward, C. B., Reiman, E. M., Stephan, D., Hardy, J., and Myers, A. J., “Genetic control of human brain transcript expression in Alzheimer disease.”, Am J Hum Genet, vol. 84, no. 4, pp. 445-58, 2009.

M. Wang, Beckmann, N. D., Roussos, P., Wang, E., Zhou, X., Wang, Q., Ming, C., Neff, R., Ma, W., Fullard, J. F., Hauberg, M. E., Bendl, J., Peters, M. A., Logsdon, B., Wang, P., Mahajan, M., Mangravite, L. M., Dammer, E. B., Duong, D. M., Lah, J. J., Seyfried, N. T., Levey, A. I., Buxbaum, J. D., Ehrlich, M., Gandy, S., Katsel, P., Haroutunian, V., Schadt, E., and Zhang, B., “The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease.”, Sci Data, vol. 5, p. 180185, 2018.

J. M. van der Walt, Dementieva, Y. A., Martin, E. R., Scott, W. K., Nicodemus, K. K., Kroner, C. C., Welsh-Bohmer, K. A., Saunders, A. M., Roses, A. D., Small, G. W., Schmechel, D. E., P Doraiswamy, M., Gilbert, J. R., Haines, J. L., Vance, J. M., and Pericak-Vance, M. A., “Analysis of European mitochondrial haplogroups with Alzheimer disease risk.”, Neurosci Lett, vol. 365, no. 1, pp. 28-32, 2004.

Y. Trembath, Rosenberg, C., Ervin, J. F., Schmechel, D. E., Gaskell, P., Pericak-Vance, M., Vance, J., and Hulette, C. M., “Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease.”, Acta Neuropathol, vol. 105, no. 5, pp. 484-8, 2003.

M. Thambisetty, An, Y., and Tanaka, T., “Alzheimer's disease risk genes and the age-at-onset phenotype.”, Neurobiol Aging, vol. 34, no. 11, pp. 2696.e1-5, 2013.

S. Swaminathan, Huentelman, M. J., Corneveaux, J. J., Myers, A. J., Faber, K. M., Foroud, T., Mayeux, R., Shen, L., Kim, S., Turk, M., Hardy, J., Reiman, E. M., and Saykin, A. J., “Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.”, PLoS One, vol. 7, no. 12, p. e50640, 2012.

S. Smemo, Nowotny, P., Hinrichs, A. L., Kauwe, J. S. K., Cherny, S., Erickson, K., Myers, A. J., Kaleem, M., Marlowe, L., Gibson, A. M., Hollingworth, P., O'Donovan, M. C., Morris, C. M., Holmans, P., Lovestone, S., Morris, J. C., Thal, L., Li, Y., Grupe, A., Hardy, J., Owen, M. J., Williams, J., and Goate, A., “Ubiquilin 1 polymorphisms are not associated with late-onset Alzheimer's disease.”, Ann Neurol, vol. 59, no. 1, pp. 21-6, 2006.

M. A. Slifer, Martin, E. R., Haines, J. L., and Pericak-Vance, M. A., “The ubiquilin 1 gene and Alzheimer's disease.”, N Engl J Med, vol. 352, no. 26, pp. 2752-3; author reply 2752-3, 2005.

R. Sims, 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., 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. Sanchez, Denning, N., Fornage, M., Malamon, J., Naranjo, M. Candida De, 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., L Cupples, A., Price, N. D., Hannequin, D., Frank-Garcia, 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., M Kamboh, I., Morris, J., 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. Díez, 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. Donata, Ciaramella, A., Pichler, S., Mayhaus, M., Gu, W., Lleó, A., Fortea, J., Blesa, R., Barber, I. S., Brookes, K., Cupidi, C., Maletta, R. Giovanni, 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. Ceballos, 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., Morris, J. C., 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. Paul, 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. Muñoz, Benito, Y. Aladro, Thonberg, H., Forsell, C., Lilius, L., Kinhult-Stählbom, A., Kilander, L., Brundin, R. M., Concari, L., Helisalmi, S., Koivisto, A. Maria, Haapasalo, A., Dermecourt, V., Fievet, N., Hanon, O., Dufouil, C., Brice, A., Ritchie, K., Dubois, B., Himali, J. J., C Keene, D., Tschanz, J. A., 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. Cecilia, 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., Brás, J., Guerreiro, R., Al-Chalabi, A., Shaw, C. E., Collinge, J., Mann, D., Tsolaki, M., Clarimón, J., Sussams, R., Lovestone, S., O'Donovan, M. C., Owen, M. J., Behrens, T. W., Mead, S., Goate, A. M., Uitterlinden, A. G., Holmes, C., 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. Keoni, Farrer, L. A., Van Broeckhoven, C., M Ikram, A., Jones, L., Haines, J. L., Tzourio, C., Launer, L. J., Escott-Price, V., Mayeux, R., Deleuze, J. - F., Amin, N., Holmans, P. A., Pericak-Vance, M. A., Amouyel, P., van Duijn, C. M., Ramirez, A., San Wang, L. -, Lambert, J. - C., Seshadri, S., Williams, J., and Schellenberg, G. D., “Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.”, Nat Genet, vol. 49, no. 9, pp. 1373-1384, 2017.

R. Sims and Williams, J., “Defining the Genetic Architecture of Alzheimer's Disease: Where Next.”, Neurodegener Dis, vol. 16, no. 1-2, pp. 6-11, 2016.

W. K. Scott, Hauser, E. R., Schmechel, D. E., Welsh-Bohmer, K. A., Small, G. W., Roses, A. D., Saunders, A. M., Gilbert, J. R., Vance, J. M., Haines, J. L., and Pericak-Vance, M. A., “Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.”, Am J Hum Genet, vol. 73, no. 5, pp. 1041-51, 2003.

L. - San Wang, Naj, A. C., Graham, R. R., Crane, P. K., Kunkle, B. W., Cruchaga, C., Murcia, J. D. Gonzalez, Cannon-Albright, L., Baldwin, C. T., Zetterberg, H., Blennow, K., Kukull, W. A., Faber, K. M., Schupf, N., Norton, M. C., Tschanz, J. A. T., Munger, R. G., Corcoran, C. D., Rogaeva, E., Lin, C. - F., Dombroski, B. A., Cantwell, L. B., Partch, A., Valladares, O., Hakonarson, H., St George-Hyslop, P., Green, R. C., Goate, A. M., Foroud, T. M., Carney, R. M., Larson, E. B., Behrens, T. W., Kauwe, J. S. K., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Mayeux, R., Schellenberg, G. D., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barber, R., Barmada, M., Barnes, L. L., Beach, T. G., Becker, J. 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., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carroll, S. L., Chui, H. C., Clark, D. G., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., F Demirci, Y., Dick, M., Dickson, D. W., Duara, R., Ertekin-Taner, N., 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., Glass, J. D., Graff-Radford, N. R., Growdon, J. H., Hamilton, R. L., Hamilton-Nelson, K. L., Harrell, L. E., Head, E., Honig, L. S., Hulette, C. M., Hyman, B. T., Jarvik, G. P., Jicha, G. A., Jin, L. - W., Jun, G., Jun, G., M Kamboh, I., 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., 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., McCormick, W. C., McCurry, S. M., McDavid, A. N., McKee, A. C., W Mesulam, M., Miller, B. L., Miller, C. A., Miller, J. W., Montine, T. J., Morris, J. C., Murrell, J. R., Olichney, J. M., Parisi, J. E., Perry, W., 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., 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. Paul, Weintraub, S., Welsh-Bohmer, K. A., Williamson, J., Wishnek, S., Woltjer, R. L., Wright, C. B., Younkin, S. G., Yu, C. - E., and Yu, L., “Rarity of the Alzheimer disease-protective APP A673T variant in the United States.”, JAMA Neurol, vol. 72, no. 2, pp. 209-16, 2015.

M. Saleh, Vaillancourt, J. P., Graham, R. K., Huyck, M., Srinivasula, S. M., Alnemri, E. S., Steinberg, M. H., Nolan, V., Baldwin, C. T., Hotchkiss, R. S., Buchman, T. G., Zehnbauer, B. A., Hayden, M. R., Farrer, L. A., Roy, S., and Nicholson, D. W., “Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms.”, Nature, vol. 429, no. 6987, pp. 75-9, 2004.

P. G. Ridge, Mukherjee, S., Crane, P. K., and Kauwe, J. S. K., “Alzheimer's disease: analyzing the missing heritability.”, PLoS One, vol. 8, no. 11, p. e79771, 2013.

C. A. Reynolds, Hong, M. - G., Eriksson, U. K., Blennow, K., Wiklund, F., Johansson, B., Malmberg, B., Berg, S., Alexeyenko, A., Grönberg, H., Gatz, M., Pedersen, N. L., and Prince, J. A., “Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.”, Hum Mol Genet, vol. 19, no. 10, pp. 2068-78, 2010.

C. Reitz, Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. Narayan, San Wang, L. -, Valladares, O., Lin, C. - F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K., Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N., Logue, M., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., M Fallin, D., Go, R. C. P., Griffith, P., Obisesan, T. O., Manly, J. J., Lunetta, K. L., M Kamboh, I., Lopez, O. L., Bennett, D. A., Hendrie, H., Hall, K. S., Goate, A. M., Byrd, G. S., Kukull, W. A., Foroud, T. M., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Schellenberg, G. D., and Mayeux, R., “Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.”, JAMA, vol. 309, no. 14, pp. 1483-92, 2013.

C. Reitz, “Genetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.”, Expert Rev Mol Diagn, vol. 15, no. 3, pp. 339-48, 2015.

C. Reitz, Tosto, G., Vardarajan, B., Rogaeva, E., Ghani, M., Rogers, R. S., Conrad, C., Haines, J. L., Pericak-Vance, M. A., Fallin, M. D., Foroud, T., Farrer, L. A., Schellenberg, G. D., George-Hyslop, P. S., and Mayeux, R., “Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP).”, Transl Psychiatry, vol. 3, p. e256, 2013.

E. M. Reiman, Webster, J. A., Myers, A. J., Hardy, J., Dunckley, T., Zismann, V. L., Joshipura, K. D., Pearson, J. V., Hu-Lince, D., Huentelman, M. J., Craig, D. W., Coon, K. D., Liang, W. S., Herbert, R. L. H., Beach, T., Rohrer, K. C., Zhao, A. S., Leung, D., Bryden, L., Marlowe, L., Kaleem, M., Mastroeni, D., Grover, A., Heward, C. B., Ravid, R., Rogers, J., Hutton, M. L., Melquist, S., Petersen, R. C., Alexander, G. E., Caselli, R. J., Kukull, W., Papassotiropoulos, A., and Stephan, D. A., “GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.”, Neuron, vol. 54, no. 5, pp. 713-20, 2007.

A. Patel, Rees, S. D., M Kelly, A., Bain, S. C., Barnett, A. H., Prasher, A., Arshad, H., and Prasher, V. P., “Genetic variants conferring susceptibility to Alzheimer's disease in the general population; do they also predispose to dementia in Down's syndrome.”, BMC Res Notes, vol. 7, p. 42, 2014.

E. S. O'Meara, Kukull, W. A., Sheppard, L., Bowen, J. D., McCormick, W. C., Teri, L., Pfanschmidt, M., Thompson, J. D., Schellenberg, G. D., and Larson, E. B., “Head injury and risk of Alzheimer's disease by apolipoprotein E genotype.”, Am J Epidemiol, vol. 146, no. 5, pp. 373-84, 1997.