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Genetic Variation

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.

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.

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.

J. A. Chen, Wang, Q., Davis-Turak, J., Li, Y., Karydas, A. M., Hsu, S. C., Sears, R. L., Chatzopoulou, D., Huang, A. Y., Wojta, K. J., Klein, E., Lee, J., Beekly, D. L., Boxer, A., Faber, K. M., Haase, C. M., Miller, J., Poon, W. W., Rosen, A., Rosen, H., Sapozhnikova, A., Shapira, J., Varpetian, A., Foroud, T. M., Levenson, R. W., Levey, A. I., Kukull, W. A., Mendez, M. F., Ringman, J., Chui, H., Cotman, C., DeCarli, C., Miller, B. L., Geschwind, D. H., and Coppola, G., “A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy.”, JAMA Neurol, vol. 72, no. 4, pp. 414-22, 2015.

R. Guerreiro, Brás, J., Hardy, J., and Singleton, A., “Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.”, Hum Mol Genet, vol. 23, no. R1, pp. R47-53, 2014.

C. M. Karch, Cruchaga, C., and Goate, A. M., “Alzheimer's disease genetics: from the bench to the clinic.”, Neuron, vol. 83, no. 1, pp. 11-26, 2014.

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. 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.

G. U. Höglinger, Melhem, N. M., Dickson, D. W., Sleiman, P. M. A., San Wang, L. -, Klei, L., Rademakers, R., de Silva, R., Litvan, I., Riley, D. E., van Swieten, J. C., Heutink, P., Wszolek, Z. K., Uitti, R. J., Vandrovcova, J., Hurtig, H. I., Gross, R. G., Maetzler, W., Goldwurm, S., Tolosa, E., Borroni, B., Pastor, P., Cantwell, L. B., Han, M. Ryung, Dillman, A., van der Brug, M. P., J Gibbs, R., Cookson, M. R., Hernandez, D. G., Singleton, A. B., Farrer, M. J., Yu, C. - E., Golbe, L. I., Revesz, T., Hardy, J., Lees, A. J., Devlin, B., Hakonarson, H., Müller, U., and Schellenberg, G. D., “Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.”, Nat Genet, vol. 43, no. 7, pp. 699-705, 2011.

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.

J. H. Lee, Cheng, R., Graff-Radford, N., Foroud, T., and Mayeux, R., “Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: implication of additional loci.”, Arch Neurol, vol. 65, no. 11, pp. 1518-26, 2008.

P. L. De Jager, Shulman, J. M., Chibnik, L. B., Keenan, B. T., Raj, T., Wilson, R. S., Yu, L., Leurgans, S. E., Tran, D., Aubin, C., Anderson, C. D., Biffi, A., Corneveaux, J. J., Huentelman, M. J., Rosand, J., Daly, M. J., Myers, A. J., Reiman, E. M., Bennett, D. A., and Evans, D. A., “A genome-wide scan for common variants affecting the rate of age-related cognitive decline.”, Neurobiol Aging, vol. 33, no. 5, pp. 1017.e1-15, 2012.

A. J. Myers, J Gibbs, R., Webster, J. A., Rohrer, K., Zhao, A., Marlowe, L., Kaleem, M., 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., Holmans, P., Heward, C. B., Reiman, E. M., Stephan, D., and Hardy, J., “A survey of genetic human cortical gene expression.”, Nat Genet, vol. 39, no. 12, pp. 1494-9, 2007.

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. 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.

A. Akomolafe, Lunetta, K. L., Erlich, P. M., Cupples, L. A., Baldwin, C. T., Huyck, M., Green, R. C., and Farrer, L. A., “Genetic association between endothelial nitric oxide synthase and Alzheimer disease.”, Clin Genet, vol. 70, no. 1, pp. 49-56, 2006.

C. A. Reynolds, Hong, M. - G., Eriksson, U. K., Blennow, K., Bennet, A. M., Johansson, B., Malmberg, B., Berg, S., Wiklund, F., Gatz, M., Pedersen, N. L., and Prince, J. A., “A survey of ABCA1 sequence variation confirms association with dementia.”, Hum Mutat, vol. 30, no. 9, pp. 1348-54, 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.

Z. Li, Del-Aguila, J. L., Dube, U., Budde, J., Martinez, R., Black, K., Xiao, Q., Cairns, N. J., Dougherty, J. D., Lee, J. - M., Morris, J. C., Bateman, R. J., Karch, C. M., Cruchaga, C., and Harari, O., “Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.”, Genome Med, vol. 10, no. 1, p. 43, 2018.

C. L. Satizabal, Adams, H. H. H., Hibar, D. P., White, C. C., Knol, M. J., Stein, J. L., Scholz, M., Sargurupremraj, M., Jahanshad, N., Roshchupkin, G. V., Smith, A. V., Bis, J. C., Jian, X., Luciano, M., Hofer, E., Teumer, A., van der Lee, S. J., Yang, J., Yanek, L. R., Lee, T. V., Li, S., Hu, Y., Koh, J. Yu, Eicher, J. D., Desrivières, S., Arias-Vasquez, A., Chauhan, G., Athanasiu, L., Rentería, M. E., Kim, S., Hoehn, D., Armstrong, N. J., Chen, Q., Holmes, A. J., Braber, Aden, Kloszewska, I., Andersson, M., Espeseth, T., Grimm, O., Abramovic, L., Alhusaini, S., Milaneschi, Y., Papmeyer, M., Axelsson, T., Ehrlich, S., Roiz-Santiañez, R., Kraemer, B., Håberg, A. K., Jones, H. J., G Pike, B., Stein, D. J., Stevens, A., Bralten, J., Vernooij, M. W., Harris, T. B., Filippi, I., A Witte, V., Guadalupe, T., Wittfeld, K., Mosley, T. H., Becker, J. T., Doan, N. Trung, Hagenaars, S. P., Saba, Y., Cuellar-Partida, G., Amin, N., Hilal, S., Nho, K., Mirza-Schreiber, N., Arfanakis, K., Becker, D. M., Ames, D., Goldman, A. L., Lee, P. H., Boomsma, D. I., Lovestone, S., Giddaluru, S., Le Hellard, S., Mattheisen, M., Bohlken, M. M., Kasperaviciute, D., Schmaal, L., Lawrie, S. M., Agartz, I., Walton, E., Tordesillas-Gutierrez, D., Davies, G. E., Shin, J., Ipser, J. C., Vinke, L. N., Hoogman, M., Jia, T., Burkhardt, R., Klein, M., Crivello, F., Janowitz, D., Carmichael, O., Haukvik, U. K., Aribisala, B. S., Schmidt, H., Strike, L. T., Cheng, C. - Y., Risacher, S. L., Pütz, B., Fleischman, D. A., Assareh, A. A., Mattay, V. S., Buckner, R. L., Mecocci, P., Dale, A. M., Cichon, S., Boks, M. P., Matarin, M., Penninx, B. W. J. H., Calhoun, V. D., M Chakravarty, M., Marquand, A. F., Macare, C., Masouleh, S. Kharabian, Oosterlaan, J., Amouyel, P., Hegenscheid, K., Rotter, J. I., Schork, A. J., Liewald, D. C. M., de Zubicaray, G. I., Wong, T. Yin, Shen, L., Sämann, P. G., Brodaty, H., Roffman, J. L., de Geus, E. J. C., Tsolaki, M., Erk, S., van Eijk, K. R., Cavalleri, G. L., van der Wee, N. J. A., McIntosh, A. M., Gollub, R. L., Bulayeva, K. B., Bernard, M., Richards, J. S., Himali, J. J., Loeffler, M., Rommelse, N., Hoffmann, W., Westlye, L. T., Hernández, M. C. Valdés, Hansell, N. K., van Erp, T. G. M., Wolf, C., Kwok, J. B. J., Vellas, B., Heinz, A., Loohuis, L. M. Olde, Delanty, N., Ho, B. - C., Ching, C. R. K., Shumskaya, E., Singh, B., Hofman, A., van der Meer, D., Homuth, G., Psaty, B. M., Bastin, M. E., Montgomery, G. W., Foroud, T. M., Reppermund, S., Hottenga, J. - J., Simmons, A., Meyer-Lindenberg, A., Cahn, W., Whelan, C. D., van Donkelaar, M. M. J., Yang, Q., Hosten, N., Green, R. C., Thalamuthu, A., Mohnke, S., Pol, H. E. Hulshoff, Lin, H., Jack, C. R., Schofield, P. R., Mühleisen, T. W., Maillard, P., Potkin, S. G., Wen, W., Fletcher, E., Toga, A. W., Gruber, O., Huentelman, M., Smith, G. Davey, Launer, L. J., Nyberg, L., Jönsson, E. G., Crespo-Facorro, B., Koen, N., Greve, D. N., Uitterlinden, A. G., Weinberger, D. R., Steen, V. M., Fedko, I. O., Groenewold, N. A., Niessen, W. J., Toro, R., Tzourio, C., Longstreth, W. T., M Ikram, K., Smoller, J. W., van Tol, M. - J., Sussmann, J. E., Paus, T., Lemaître, H., Schroeter, M. L., Mazoyer, B., Andreassen, O. A., Holsboer, F., Depondt, C., Veltman, D. J., Turner, J. A., Pausova, Z., Schumann, G., van Rooij, D., Djurovic, S., Deary, I. J., McMahon, K. L., Müller-Myhsok, B., Brouwer, R. M., Soininen, H., Pandolfo, M., Wassink, T. H., Cheung, J. W., Wolfers, T., Martinot, J. - L., Zwiers, M. P., Nauck, M., Melle, I., Martin, N. G., Kanai, R., Westman, E., Kahn, R. S., Sisodiya, S. M., White, T., Saremi, A., van Bokhoven, H., Brunner, H. G., Völzke, H., Wright, M. J., Ent, Dvan 't, Nöthen, M. M., Ophoff, R. A., Buitelaar, J. K., Fernández, G., Sachdev, P. S., Rietschel, M., van Haren, N. E. M., Fisher, S. E., Beiser, A. S., Francks, C., Saykin, A. J., Mather, K. A., Romanczuk-Seiferth, N., Hartman, C. A., DeStefano, A. L., Heslenfeld, D. J., Weiner, M. W., Walter, H., Hoekstra, P. J., Nyquist, P. A., Franke, B., Bennett, D. A., Grabe, H. J., Johnson, A. D., Chen, C., van Duijn, C. M., Lopez, O. L., Fornage, M., Wardlaw, J. M., Schmidt, R., DeCarli, C., De Jager, P. L., Villringer, A., Debette, S., Gudnason, V., Medland, S. E., Shulman, J. M., Thompson, P. M., Seshadri, S., and M Ikram, A., “Genetic architecture of subcortical brain structures in 38,851 individuals.”, Nat Genet, vol. 51, no. 11, pp. 1624-1636, 2019.

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.