Alzheimer Disease
M. Victoria Fernández, Kim, J. Hun, Budde, J. P., Black, K., Medvedeva, A., Saef, B., Deming, Y., Del-Aguila, J., Ibañez, L., Dube, U., Harari, O., Norton, J., Chasse, R., Morris, J. C., Goate, A., and Cruchaga, C.,
“Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.”,
PLoS Genet, vol. 13, no. 11, p. e1007045, 2017.
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.
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.
J. L. Del-Aguila, Li, Z., Dube, U., Mihindukulasuriya, K. A., Budde, J. P., Fernández, M. Victoria, Ibañez, L., Bradley, J., Wang, F., Bergmann, K., Davenport, R., Morris, J. C., Holtzman, D. M., Perrin, R. J., Benitez, B. A., Dougherty, J., Cruchaga, C., and Harari, O.,
“A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.”,
Alzheimers Res Ther, vol. 11, no. 1, p. 71, 2019.
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.
G. W. Beecham, Hamilton, K., Naj, A. C., Martin, E. R., Huentelman, M., Myers, A. J., Corneveaux, J. J., Hardy, J., Vonsattel, J. - P., Younkin, S. G., Bennett, D. A., De Jager, P. L., Larson, E. B., Crane, P. K., M Kamboh, I., Kofler, J. K., Mash, D. C., Duque, L., Gilbert, J. R., Gwirtsman, H., Buxbaum, J. D., Kramer, P., Dickson, D. W., Farrer, L. A., Frosch, M. P., Ghetti, B., Haines, J. L., Hyman, B. T., Kukull, W. A., Mayeux, R. P., Pericak-Vance, M. A., Schneider, J. A., Trojanowski, J. Q., Reiman, E. M., Schellenberg, G. D., and Montine, T. J.,
“Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.”,
PLoS Genet, vol. 10, no. 9, p. e1004606, 2014.
M. I. Kamboh, Barmada, M. M., Demirci, F. Y., Minster, R. L., Carrasquillo, M. M., Pankratz, V. S., Younkin, S. G., Saykin, A. J., Sweet, R. A., Feingold, E., DeKosky, S. T., and Lopez, O. L.,
“Genome-wide association analysis of age-at-onset in Alzheimer's disease.”,
Mol Psychiatry, vol. 17, no. 12, pp. 1340-6, 2012.
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.
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. Hollingworth, Harold, D., Sims, R., Gerrish, A., Lambert, J. - C., Carrasquillo, M. M., Abraham, R., Hamshere, M. L., Pahwa, J. Singh, Moskvina, V., Dowzell, K., Jones, N., Stretton, A., Thomas, C., Richards, A., Ivanov, D., Widdowson, C., Chapman, J., Lovestone, S., Powell, J., 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., A Smith, 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., V Pankratz, 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., M Ikram, 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., Snaedal, 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., and Williams, J.,
“Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.”,
Nat Genet, vol. 43, no. 5, pp. 429-35, 2011.
A. C. Naj, Beecham, G. W., Martin, E. R., Gallins, P. J., Powell, E. H., Konidari, I., Whitehead, P. L., Cai, G., Haroutunian, V., Scott, W. K., Vance, J. M., Slifer, M. A., Gwirtsman, H. E., Gilbert, J. R., Haines, J. L., Buxbaum, J. D., and Pericak-Vance, M. A.,
“Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.”,
PLoS Genet, vol. 6, no. 9, p. e1001130, 2010.
Y. - J. Li, Scott, W. K., Zhang, L., Lin, P. - I., Oliveira, S. A., Skelly, T., Doraiswamy, M. P., Welsh-Bohmer, K. A., Martin, E. R., Haines, J. L., Pericak-Vance, M. A., and Vance, J. M.,
“Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases.”,
Neurobiol Aging, vol. 27, no. 8, pp. 1087-93, 2006.
N. Ertekin-Taner, Ronald, J., Feuk, L., Prince, J., Tucker, M., Younkin, L., Hella, M., Jain, S., Hackett, A., Scanlin, L., Kelly, J., Kihiko-Ehman, M., Neltner, M., Hersh, L., Kindy, M., Markesbery, W., Hutton, M., de Andrade, M., Petersen, R. C., Graff-Radford, N., Estus, S., Brookes, A. J., and Younkin, S. G.,
“Elevated amyloid beta protein (Abeta42) and late onset Alzheimer's disease are associated with single nucleotide polymorphisms in the urokinase-type plasminogen activator gene.”,
Hum Mol Genet, vol. 14, no. 3, pp. 447-60, 2005.
D. Harold, Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. Singh, 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., Gill, M., Lawlor, B., Lynch, A., Morgan, K., Brown, K. S., Passmore, P. A., Craig, D., McGuinness, B., Todd, S., Holmes, C., Mann, D., A Smith, D., Love, S., Kehoe, P. G., Hardy, J., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., van den Bussche, H., Heuser, I., Kornhuber, J., Wiltfang, J., Dichgans, M., Frölich, L., Hampel, H., Hüll, M., Rujescu, D., Goate, A. M., Kauwe, J. S. K., Cruchaga, C., Nowotny, P., Morris, J. C., Mayo, K., Sleegers, K., Bettens, K., Engelborghs, S., De Deyn, P. P., Van Broeckhoven, C., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Tsolaki, M., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. - H., Klopp, N., Wichmann, H. - E., Carrasquillo, M. M., V Pankratz, S., Younkin, S. G., Holmans, P. A., O'Donovan, M., Owen, M. J., and Williams, J.,
“Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.”,
Nat Genet, vol. 41, no. 10, pp. 1088-93, 2009.
C. M. Karch, Ezerskiy, L. A., Bertelsen, S., and Goate, A. M.,
“Alzheimer's Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci.”,
PLoS One, vol. 11, no. 2, p. e0148717, 2016.
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.
M. M. Carrasquillo, Zou, F., V Pankratz, S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, S. G., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., Ertekin-Taner, N., Crook, J. E., Dickson, D. W., Petersen, R. C., Graff-Radford, N. R., and Younkin, S. G.,
“Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease.”,
Nat Genet, vol. 41, no. 2, pp. 192-8, 2009.
E. E. Blue, Bis, J. C., Dorschner, M. O., Tsuang, D. W., Barral, S. M., Beecham, G., Below, J. E., Bush, W. S., Butkiewicz, M., Cruchaga, C., DeStefano, A., Farrer, L. A., Goate, A., Haines, J., Jaworski, J., Jun, G., Kunkle, B., Kuzma, A., Lee, J. J., Lunetta, K. L., Ma, Y., Martin, E., Naj, A., Nato, A. Q., Navas, P., Nguyen, H., Reitz, C., Reyes, D., Salerno, W., Schellenberg, G. D., Seshadri, S., Sohi, H., Thornton, T. A., Valadares, O., van Duijn, C., Vardarajan, B. N., San Wang, L. -, Boerwinkle, E., Dupuis, J., Pericak-Vance, M. A., Mayeux, R., and Wijsman, E. M.,
“Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project.”,
Dement Geriatr Cogn Disord, vol. 45, no. 1-2, pp. 1-17, 2018.
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.
R. S. Desikan, Schork, A. J., Wang, Y., Thompson, W. K., Dehghan, A., Ridker, P. M., Chasman, D. I., McEvoy, L. K., Holland, D., Chen, C. - H., Karow, D. S., Brewer, J. B., Hess, C. P., Williams, J., Sims, R., O'Donovan, M. C., Choi, S. Hoan, Bis, J. C., M Ikram, A., Gudnason, V., DeStefano, A. L., van der Lee, S. J., Psaty, B. M., van Duijn, C. M., Launer, L., Seshadri, S., Pericak-Vance, M. A., Mayeux, R., Haines, J. L., Farrer, L. A., Hardy, J., Ulstein, I. Dina, Aarsland, D., Fladby, T., White, L. R., Sando, S. B., Rongve, A., Witoelar, A., Djurovic, S., Hyman, B. T., Snaedal, J., Steinberg, S., Stefansson, H., Stefansson, K., Schellenberg, G. D., Andreassen, O. A., and Dale, A. M.,
“Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease.”,
Circulation, vol. 131, no. 23, pp. 2061-2069, 2015.
L. Bertram, Lange, C., Mullin, K., Parkinson, M., Hsiao, M., Hogan, M. F., Schjeide, B. M. M., Hooli, B., Divito, J., Ionita, I., Jiang, H., Laird, N., Moscarillo, T., Ohlsen, K. L., Elliott, K., Wang, X., Hu-Lince, D., Ryder, M., Murphy, A., Wagner, S. L., Blacker, D., K Becker, D., and Tanzi, R. E.,
“Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE.”,
Am J Hum Genet, vol. 83, no. 5, pp. 623-32, 2008.
C. Cruchaga, Karch, C. M., Jin, S. Chih, 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., Sassi, C., Brás, J., Gibbs, R. J., Hernandez, D. G., Lupton, M. K., Powell, J., Forabosco, P., Ridge, P. G., Corcoran, C. D., Tschanz, J. A. T., Norton, M. C., Munger, R. G., Schmutz, C., Leary, M., F Demirci, Y., Bamne, M. N., Wang, X., Lopez, O. L., Ganguli, M., Medway, C., Turton, J., Lord, J., Braae, A., Barber, I., Brown, K., Pastor, P., Lorenzo-Betancor, O., Brkanac, Z., Scott, E., Topol, E., Morgan, K., Rogaeva, E., Singleton, A., Hardy, J., M Kamboh, I., St George-Hyslop, P., Cairns, N., Morris, J. C., Kauwe, J. S. K., and Goate, A. M.,
“Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.”,
Nature, vol. 505, no. 7484, pp. 550-554, 2014.
Y. - J. Li, Oliveira, S. A., Xu, P., Martin, E. R., Stenger, J. E., Scherzer, C. R., Hauser, M. A., Scott, W. K., Small, G. W., Nance, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Pahwa, R., Stern, M. B., Hiner, B. C., Jankovic, J., Goetz, C. G., Mastaglia, F., Middleton, L. T., Roses, A. D., Saunders, A. M., Schmechel, D. E., Gullans, S. R., Haines, J. L., Gilbert, J. R., Vance, J. M., Pericak-Vance, M. A., Hulette, C., and Welsh-Bohmer, K. A.,
“Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease.”,
Hum Mol Genet, vol. 12, no. 24, pp. 3259-67, 2003.
A. C. Naj, Jun, G., Reitz, C., Kunkle, B. W., Perry, W., Park, Y. Son, Beecham, G. W., Rajbhandary, R. A., Hamilton-Nelson, K. L., San Wang, L. -, Kauwe, J. S. K., Huentelman, M. J., Myers, A. J., Bird, T. D., Boeve, B. F., Baldwin, C. T., Jarvik, G. P., Crane, P. K., Rogaeva, E., M Barmada, M., F Demirci, Y., Cruchaga, C., Kramer, P. L., Ertekin-Taner, N., Hardy, J., Graff-Radford, N. R., Green, R. C., Larson, E. B., St George-Hyslop, P. H., Buxbaum, J. D., Evans, D. A., Schneider, J. A., Lunetta, K. L., M Kamboh, I., Saykin, A. J., Reiman, E. M., De Jager, P. L., 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., Martin, E. R., Haines, J. L., Mayeux, R. P., Farrer, L. A., Schellenberg, G. D., Pericak-Vance, M. A., Albert, M. S., Albin, R. L., Apostolova, L. G., Arnold, S. E., Barber, R., Barnes, L. L., Beach, T. G., Becker, J. T., Beekly, D., Bigio, E. H., Bowen, J. D., Boxer, A., Burke, J. R., 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., Cribbs, D. H., Crocco, E. A., DeCarli, C., DeKosky, S. T., Dick, M., Dickson, D. W., Duara, R., 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., 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., 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., Lopez, O. L., Lyketsos, C. G., Mack, W. J., 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., Olichney, J. M., Pankratz, V. S., Parisi, J. E., Paulson, H. L., Peskind, E., Petersen, R. C., Pierce, A., Poon, W. W., Potter, H., Quinn, J. F., Raj, A., Raskind, M., Reisberg, B., Ringman, J. M., Roberson, E. D., Rosen, H. J., Rosenberg, R. N., Sano, M., 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., Valladares, O., 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.,
“Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study.”,
JAMA Neurol, vol. 71, no. 11, pp. 1394-404, 2014.
P. Nowotny, Hinrichs, A. L., Smemo, S., Kauwe, J. S. K., Maxwell, T., Holmans, P., Hamshere, M., Turic, D., Jehu, L., Hollingworth, P., Moore, P., Bryden, L., Myers, A., Doil, L. M., Tacey, K. M., Gibson, A. M., McKeith, I. G., Perry, R. H., Morris, C. M., Thal, L., Morris, J. C., O'Donovan, M. C., Lovestone, S., Grupe, A., Hardy, J., Owen, M. J., Williams, J., and Goate, A.,
“Association studies between risk for late-onset Alzheimer's disease and variants in insulin degrading enzyme.”,
Am J Med Genet B Neuropsychiatr Genet, vol. 136B, no. 1, pp. 62-8, 2005.
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