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Genetic Predisposition to Disease
H. - F. Wang, Wan, Y., Hao, X. - K., Cao, L., Zhu, X. - C., Jiang, T., Tan, M. - S., Tan, L., Zhang, D. - Q., Tan, L., and Yu, J. - T., Bridging Integrator 1 (BIN1) Genotypes Mediate Alzheimer's Disease Risk by Altering Neuronal Degeneration., J Alzheimers Dis, vol. 52, no. 1, pp. 179-90, 2016.
Q. Ye, Bai, F., and Zhang, Z., Shared Genetic Risk Factors for Late-Life Depression and Alzheimer's Disease., J Alzheimers Dis, vol. 52, no. 1, pp. 1-15, 2016.
I. Piaceri, Bessi, V., Matà, S., Polito, C., Tedde, A., Berti, V., Bagnoli, S., Braccia, A., Del Mastio, M., Pignone, A. Moggi, Pupi, A., Sorbi, S., and Nacmias, B., Association of the New Variant Tyr424Asp at TBK1 Gene with Amyotrophic Lateral Sclerosis and Cognitive Decline., J Alzheimers Dis, vol. 61, no. 1, pp. 41-46, 2018.
G. Liu, Zhang, Y., Wang, L., Xu, J., Chen, X., Bao, Y., Hu, Y., Jin, S., Tian, R., Bai, W., Zhou, W., Wang, T., Han, Z., Zong, J., and Jiang, Q., Alzheimer's Disease rs11767557 Variant Regulates EPHA1 Gene Expression Specifically in Human Whole Blood., J Alzheimers Dis, vol. 61, no. 3, pp. 1077-1088, 2018.
A. José Gabriel, Almeida, M. Rosário, Ribeiro, M. Helena, Carneiro, D., Valério, D., Pinheiro, A. Cristina, Pascoal, R., Santana, I., and Baldeiras, I., Influence of Butyrylcholinesterase in Progression of Mild Cognitive Impairment to Alzheimer's Disease., J Alzheimers Dis, vol. 61, no. 3, pp. 1097-1105, 2018.
E. Gómez-Tortosa, Ruggiero, M., Sainz, M. José, Villarejo-Galende, A., Prieto-Jurczynska, C., Pérez, B. Venegas, Ordás, C., Agüero, P., Guerrero-López, R., and Pérez-Pérez, J., SORL1 Variants in Familial Alzheimer's Disease., J Alzheimers Dis, vol. 61, no. 4, pp. 1275-1281, 2018.
K. Le Guennec, Tubeuf, H., Hannequin, D., Wallon, D., Quenez, O., Rousseau, S., Richard, A. - C., Deleuze, J. - F., Boland, A., Frebourg, T., Gaildrat, P., Campion, D., Martins, A., and Nicolas, G., Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient., J Alzheimers Dis, vol. 62, no. 2, pp. 821-831, 2018.
S. Sapkota and Dixon, R. A., A Network of Genetic Effects on Non-Demented Cognitive Aging: Alzheimer's Genetic Risk (CLU + CR1 + PICALM) Intensifies Cognitive Aging Genetic Risk (COMT + BDNF) Selectively for APOEɛ4 Carriers., J Alzheimers Dis, vol. 62, no. 2, pp. 887-900, 2018.
J. L. Del-Aguila, Fernández, M. Victoria, Schindler, S., Ibanez, L., Deming, Y., Ma, S., Saef, B., Black, K., Budde, J., Norton, J., Chasse, R., Harari, O., Goate, A., Xiong, C., Morris, J. C., and Cruchaga, C., Assessment of the Genetic Architecture of Alzheimer's Disease Risk in Rate of Memory Decline., J Alzheimers Dis, vol. 62, no. 2, pp. 745-756, 2018.
C. Fenoglio, Scarpini, E., Serpente, M., and Galimberti, D., Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia., J Alzheimers Dis, vol. 62, no. 3, pp. 913-932, 2018.
Genetic Testing
M. Bocchetta, Mega, A., Bernardi, L., Di Maria, E., Benussi, L., Binetti, G., Borroni, B., Colao, R., Di Fede, G., Fostinelli, S., Galimberti, D., Gennarelli, M., Ghidoni, R., Piaceri, I., Pievani, M., Porteri, C., Redaelli, V., Rossi, G., Suardi, S., Babiloni, C., Scarpini, E., Tagliavini, F., Padovani, A., Nacmias, B., Sorbi, S., Frisoni, G. B., and Bruni, A. C., Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol., J Alzheimers Dis, vol. 51, no. 1, pp. 277-91, 2016.
S. Fostinelli, Ciani, M., Zanardini, R., Zanetti, O., Binetti, G., Ghidoni, R., and Benussi, L., The Heritability of Frontotemporal Lobar Degeneration: Validation of Pedigree Classification Criteria in a Northern Italy Cohort., J Alzheimers Dis, vol. 61, no. 2, pp. 753-760, 2018.
M. Pia Giannoccaro, Bartoletti-Stella, A., Piras, S., Casalena, A., Oppi, F., Ambrosetto, G., Montagna, P., Liguori, R., Parchi, P., and Capellari, S., The First Historically Reported Italian Family with FTD/ALS Teaches a Lesson on C9orf72 RE: Clinical Heterogeneity and Oligogenic Inheritance., J Alzheimers Dis, vol. 62, no. 2, pp. 687-697, 2018.
H. Ulugut Erkoyun, van der Lee, S. J., Nijmeijer, B., van Spaendonk, R., Nelissen, A., Scarioni, M., Dijkstra, A., Samancı, B., Gürvit, H., Yıldırım, Z., Tepgeç, F., Bilgic, B., Barkhof, F., Rozemuller, A., van der Flier, W. M., Scheltens, P., Cohn-Hokke, P., and Pijnenburg, Y., The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series., J Alzheimers Dis, vol. 79, no. 3, pp. 1195-1201, 2021.
Genetic Variation
R. Guerreiro, Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J. - C., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., Powell, J., St George-Hyslop, P., Singleton, A., and Hardy, J., TREM2 variants in Alzheimer's disease., N Engl J Med, vol. 368, no. 2, pp. 117-27, 2013.
S. Kim, Nho, K., Ramanan, V. K., Lai, D., Foroud, T. M., Lane, K., Murrell, J. R., Gao, S., Hall, K. S., Unverzagt, F. W., Baiyewu, O., Ogunniyi, A., Gureje, O., Kling, M. A., P Doraiswamy, M., Kaddurah-Daouk, R., Hendrie, H. C., and Saykin, A. J., Genetic Influences on Plasma Homocysteine Levels in African Americans and Yoruba Nigerians., J Alzheimers Dis, vol. 49, no. 4, pp. 991-1003, 2016.
K. Le Guennec, Tubeuf, H., Hannequin, D., Wallon, D., Quenez, O., Rousseau, S., Richard, A. - C., Deleuze, J. - F., Boland, A., Frebourg, T., Gaildrat, P., Campion, D., Martins, A., and Nicolas, G., Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient., J Alzheimers Dis, vol. 62, no. 2, pp. 821-831, 2018.
H. Ulugut Erkoyun, van der Lee, S. J., Nijmeijer, B., van Spaendonk, R., Nelissen, A., Scarioni, M., Dijkstra, A., Samancı, B., Gürvit, H., Yıldırım, Z., Tepgeç, F., Bilgic, B., Barkhof, F., Rozemuller, A., van der Flier, W. M., Scheltens, P., Cohn-Hokke, P., and Pijnenburg, Y., The Right Temporal Variant of Frontotemporal Dementia Is Not Genetically Sporadic: A Case Series., J Alzheimers Dis, vol. 79, no. 3, pp. 1195-1201, 2021.
Genome-Wide Association Study
R. Guerreiro, Wojtas, A., Bras, J., Carrasquillo, M., Rogaeva, E., Majounie, E., Cruchaga, C., Sassi, C., Kauwe, J. S. K., Younkin, S., Hazrati, L., Collinge, J., Pocock, J., Lashley, T., Williams, J., Lambert, J. - C., Amouyel, P., Goate, A., Rademakers, R., Morgan, K., Powell, J., St George-Hyslop, P., Singleton, A., and Hardy, J., TREM2 variants in Alzheimer's disease., N Engl J Med, vol. 368, no. 2, pp. 117-27, 2013.
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., Fiévet, 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.
L. Jones, Holmans, P. A., Hamshere, M. L., Harold, D., Moskvina, V., Ivanov, D., Pocklington, A., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Pahwa, J. Singh, Jones, N., 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., Mead, S., Fox, N., Rossor, M., Collinge, J., Maier, W., Jessen, F., Schürmann, B., Heun, R., Kölsch, H., van den Bussche, H., Heuser, I., Peters, O., 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., Livingston, G., Bass, N. J., Gurling, H., McQuillin, A., Gwilliam, R., Deloukas, P., Al-Chalabi, A., Shaw, C. E., Singleton, A. B., Guerreiro, R., Mühleisen, T. W., Nöthen, M. M., Moebus, S., Jöckel, K. - H., Klopp, N., Wichmann, H. - E., Rüther, E., Carrasquillo, M. M., V Pankratz, S., Younkin, S. G., Hardy, J., O'Donovan, M. C., Owen, M. J., and Williams, J., Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease., PLoS One, vol. 5, no. 11, p. e13950, 2010.

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