Alzheimer Disease
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.
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.
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.
Y. Le Guen, Belloy, M. E., Napolioni, V., Eger, S. J., Kennedy, G., Tao, R., He, Z., and Greicius, M. D.,
“A novel age-informed approach for genetic association analysis in Alzheimer's disease.”,
Alzheimers Res Ther, vol. 13, no. 1, p. 72, 2021.
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.
J. C. Lambert, Ibrahim-Verbaas, C. A., Harold, D., Naj, A. C., Sims, R., Bellenguez, C., DeStafano, A. L., Bis, J. C., Beecham, G. W., Grenier-Boley, B., Russo, G., Thorton-Wells, T. A., Jones, N., Smith, A. V., Chouraki, V., Thomas, C., Ikram, M. A., 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., 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., Fievet, N., Huentelman, M. W., Gill, M., Brown, K., Kamboh, M. I., Keller, L., Barberger-Gateau, P., McGuiness, 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., Naranjo, M. C. Deniz, Bosco, P., Clarke, R., 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., Lannefelt, 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., 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., Boerwinkle, E., Riemenschneider, M., Boada, M., Hiltuenen, 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., Psaty, B. M., 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., Seshadri, S., Williams, J., Schellenberg, G. D., and Amouyel, P.,
“Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.”,
Nat Genet, vol. 45, no. 12, pp. 1452-8, 2013.
K. K. Nicodemus, Stenger, J. E., Schmechel, D. E., Welsh-Bohmer, K. A., Saunders, A. M., Roses, A. D., Gilbert, J. R., Vance, J. M., Haines, J. L., Pericak-Vance, M. A., and Martin, E. R.,
“Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease.”,
Neurogenetics, vol. 5, no. 4, pp. 201-8, 2004.
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.
A. C. Naj, Jun, G., Beecham, G. W., San Wang, L. -, Vardarajan, B. Narayan, 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., Cruchaga, C., Kauwe, J. S. K., Nowotny, P., Kramer, P., Hardy, J., Huentelman, M. J., Myers, A. J., Barmada, M. M., F Demirci, Y., Baldwin, C. T., Green, R. C., Rogaeva, E., St George-Hyslop, P., 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. Paul, 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., M Kamboh, 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., and Schellenberg, G. D.,
“Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.”,
Nat Genet, vol. 43, no. 5, pp. 436-41, 2011.
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.
G. W. Beecham, Martin, E. R., Li, Y. - J., Slifer, M. A., Gilbert, J. R., Haines, J. L., and Pericak-Vance, M. A.,
“Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.”,
Am J Hum Genet, vol. 84, no. 1, pp. 35-43, 2009.
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.
R. K. Gopalraj, Zhu, H., Kelly, J. F., Mendiondo, M., Pulliam, J. F., Bennett, D. A., and Estus, S.,
“Genetic association of low density lipoprotein receptor and Alzheimer's disease.”,
Neurobiol Aging, vol. 26, no. 1, pp. 1-7, 2005.
G. McKhann, Drachman, D., Folstein, M., Katzman, R., Price, D., and Stadlan, E. M.,
“Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.”,
Neurology, vol. 34, no. 7, pp. 939-44, 1984.
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.
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.
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. T. W. Ebbert, Boehme, K. L., Wadsworth, M. E., Staley, L. A., Mukherjee, S., Crane, P. K., Ridge, P. G., and Kauwe, J. S. K.,
“Interaction between variants in CLU and MS4A4E modulates Alzheimer's disease risk.”,
Alzheimers Dement, vol. 12, no. 2, pp. 121-129, 2016.
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.
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.
G. Jun, 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., 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., and Farrer, L. A.,
“A novel Alzheimer disease locus located near the gene encoding tau protein.”,
Mol Psychiatry, vol. 21, no. 1, pp. 108-17, 2016.
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.
W. A. Kukull, Higdon, R., Bowen, J. D., McCormick, W. C., Teri, L., Schellenberg, G. D., van Belle, G., Jolley, L., and Larson, E. B.,
“Dementia and Alzheimer disease incidence: a prospective cohort study.”,
Arch Neurol, vol. 59, no. 11, pp. 1737-46, 2002.
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.
A. J. Myers, Marshall, H., Holmans, P., Compton, D., Crook, R. J. P., Mander, A. P., Nowotny, P., Smemo, S., Dunstan, M., Jehu, L., Wang, J. C., Hamshere, M., Morris, J. C., Norton, J., Chakraventy, S., Tunstall, N., Lovestone, S., Petersen, R., O'Donovan, M., Jones, L., Williams, J., Owen, M. J., Hardy, J., and Goate, A.,
“Variation in the urokinase-plasminogen activator gene does not explain the chromosome 10 linkage signal for late onset AD.”,
Am J Med Genet B Neuropsychiatr Genet, vol. 124B, no. 1, pp. 29-37, 2004.
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