Cerebral amyloid angiopathy impacts neurofibrillary tangle burden and cognition.

Autor: Godrich D; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Pasteris J; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Martin ER; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Rundek T; Department of Neurology and Evelyn F. McKnight Brain Institute, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Schellenberg G; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 190104, USA., Foroud T; Department of Medical and Molecular Genetics, Indiana University, Indianapolis, IN 46202, USA., Vance JM; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Pericak-Vance MA; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Cuccaro ML; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Scott WK; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA., Kukull W; Department of Epidemiology, University of Washington, Seattle, WA 351619, USA., Montine TJ; Department of Pathology, Stanford University, Stanford, CA 94305, USA., Beecham GW; Dr. John T Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL 33136, USA.

Publikováno v: Brain communications [Brain Commun] 2024 Nov 22; Vol. 6 (6), pp. fcae369. Date of Electronic Publication: 2024 Nov 22 (Print Publication: 2024).

New insights into the genetic etiology of Alzheimer's disease and related dementias

Autor: Bellenguez, C., Küçükali, F., Jansen, I. E., Kleineidam, L., Moreno-Grau, S., Amin, N., Naj, A. C., Campos-Martin, R., Grenier-Boley, B., Andrade, V., Holmans, P. A., Boland, A., Damotte, V., van der Lee, S. J., Costa, M. R., Kuulasmaa, T., Yang, Q., de Rojas, I., Bis, J. C., Yaqub, A., Prokic, I., Chapuis, J., Ahmad, S., Giedraitis, V., Aarsland, D., Garcia-Gonzalez, P., Abdelnour, C., Alarcón-Martín, E., Alcolea, D., Alegret, M., Alvarez, I., Álvarez, V., Armstrong, N. J., Tsolaki, A., Antúnez, C., Appollonio, I., Arcaro, M., Archetti, S., Pastor, A. A., Arosio, B., Athanasiu, L., Bailly, H., Banaj, N., Baquero, M., Barral, S., Beiser, A., Pastor, A. B., Below, J. E., Benchek, P., Benussi, L., Berr, C., Besse, C., Bessi, V., Binetti, G., Bizarro, A., Blesa, R., Boada, M., Boerwinkle, E., Borroni, B., Boschi, S., Bossù, P., Bråthen, G., Bressler, J., Bresner, C., Brodaty, H., Brookes, K. J., Brusco, L. I., Buiza-Rueda, D., Bûrger, K., Burholt, V., Bush, W. S., Calero, M., Cantwell, L. B., Chene, G., Chung, J., Cuccaro, M. L., Carracedo, Á., Cecchetti, R., Cervera-Carles, L., Charbonnier, C., Chen, H. -H., Chillotti, C., Ciccone, S., Claassen, J. A. H. R., Clark, C., Conti, E., Corma-Gómez, A., Costantini, E., Custodero, C., Daian, D., Dalmasso, M. C., Daniele, A., Dardiotis, E., Dartigues, J. -F., de Deyn, P. P., de Paiva Lopes, K., de Witte, L. D., Debette, S., Deckert, J., del Ser, T., Denning, N., Destefano, A., Dichgans, M., Diehl-Schmid, J., Diez-Fairen, M., Rossi, P. D., Djurovic, S., Duron, E., Düzel, E., Dufouil, C., Eiriksdottir, G., Engelborghs, S., Escott-Price, V., Espinosa, A., Ewers, M., Faber, K. M., Fabrizio, T., Nielsen, S. F., Fardo, D. W., Farotti, L., Fenoglio, C., Fernández-Fuertes, M., Ferrari, R., Ferreira, C. B., Ferri, E., Fin, B., Fischer, P., Fladby, T., Fließbach, K., Fongang, B., Fornage, M., Fortea, J., Foroud, T. M., Fostinelli, S., Fox, N. C., Franco-Macías, E., Bullido, M. J., Frank-García, A., Froelich, L., Fulton-Howard, B., Galimberti, D., García-Alberca, J. M., García-González, P., Garcia-Madrona, S., Garcia-Ribas, G., Ghidoni, R., Giegling, I., Giorgio, G., Goate, A. M., Goldhardt, O., Gomez-Fonseca, D., González-Pérez, A., Graff, C., Grande, G., Green, E., Grimmer, T., Grünblatt, E., Grunin, M., Gudnason, V., Guetta-Baranes, T., Haapasalo, A., Hadjigeorgiou, G., Haines, J. L., Hamilton-Nelson, K. L., Hampel, H., Hanon, O., Hardy, J., Hartmann, A. M., Hausner, L., Harwood, J., Heilmann-Heimbach, S., Helisalmi, S., Heneka, M. T., Hernández, I., Herrmann, M. J., Hoffmann, P., Holmes, C., Holstege, H., Vilas, R. H., Hulsman, M., Humphrey, J., Biessels, G. J., Jian, X., Johansson, C., Jun, G. R., Kastumata, Y., Kauwe, J., Kehoe, P. G., Kilander, L., Ståhlbom, A. K., Kivipelto, M., Koivisto, A., Kornhuber, J., Kosmidis, M. H., Kukull, W. A., Kuksa, P. P., Kunkle, B. W., Kuzma, A. B., Lage, C., Laukka, E. J., Launer, L., Lauria, A., Lee, C. -Y., Lehtisalo, J., Lerch, O., Lleó, A., Longstreth, W., Lopez, O., de Munain, A. L., Love, S., Löwemark, M., Luckcuck, L., Lunetta, K. L., Ma, Y., Macías, J., Macleod, C. A., Maier, W., Mangialasche, F., Spallazzi, M., Marquié, M., Marshall, R., Martin, E. R., Montes, A. M., Rodríguez, C. M., Masullo, C., Mayeux, R., Mead, S., Mecocci, P., Medina, M., Meggy, A., Mehrabian, S., Mendoza, S., Menéndez-González, M., Mir, P., Moebus, S., Mol, M., Molina-Porcel, L., Montrreal, L., Morelli, L., Moreno, F., Morgan, K., Mosley, T., Nöthen, M. M., Muchnik, C., Mukherjee, S., Nacmias, B., Ngandu, T., Nicolas, G., Nordestgaard, B. G., Olaso, R., Orellana, A., Orsini, M., Ortega, G., Padovani, A., Paolo, C., Papenberg, G., Parnetti, L., Pasquier, F., Pastor, P., Peloso, G., Pérez-Cordón, A., Pérez-Tur, J., Pericard, P., Peters, O., Pijnenburg, Y. A. L., Pineda, J. A., Piñol-Ripoll, G., Pisanu, C., Polak, T., Popp, J., Posthuma, D., Priller, J., Puerta, R., Quenez, O., Quintela, I., Thomassen, J. Q., Rábano, A., Rainero, I., Rajabli, F., Ramakers, I., Real, L. M., Reinders, M. J. T., Reitz, C., Reyes-Dumeyer, D., Ridge, P., Riedel-Heller, S., Riederer, P., Roberto, N., Rodriguez-Rodriguez, E., Rongve, A., Allende, I. R., Rosende-Roca, M., Royo, J. L., Rubino, E., Rujescu, D., Sáez, M. E., Sakka, P., Saltvedt, I., Sanabria, Á., Sánchez-Arjona, M. B., Sanchez-Garcia, F., Juan, P. S., Sánchez-Valle, R., Sando, S. B., Sarnowski, C., Satizabal, C. L., Scamosci, M., Scarmeas, N., Scarpini, E., Scheltens, P., Scherbaum, N., Scherer, M., Schmid, M., Schneider, A., Schott, J. M., Selbæk, G., Seripa, D., Serrano, M., Sha, J., Shadrin, A. A., Skrobot, O., Slifer, S., Snijders, G. J. L., Soininen, H., Solfrizzi, V., Solomon, A., Song, Y. E., Sorbi, S., Sotolongo-Grau, O., Spalletta, G., Spottke, A., Squassina, A., Stordal, E., Tartan, J. 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Publikováno v: EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature Genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54(4)
Nature genetics, 54(4), 412-436. Nature Publishing Group
Nature Genetics, 54, 4, pp. 412-436
Nature Genetics
Nature Genetics, 54, 412-436
NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Digital.CSIC. Repositorio Institucional del CSIC
EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Nature genetics
2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z
Repisalud
Instituto de Salud Carlos III (ISCIII)
Nature genetics 54(4), 412-436 (2022). doi:10.1038/s41588-022-01024-z
Bellenguez, C, Küçükali, F, Jansen, I E, Kleineidam, L, Moreno-Grau, S, Amin, N, Naj, A C, Campos-Martin, R, Grenier-Boley, B, Andrade, V, Holmans, P A, Boland, A, Damotte, V, van der Lee, S J, Costa, M R, Kuulasmaa, T, Yang, Q, de Rojas, I, Bis, J C, Yaqub, A, Prokic, I, Chapuis, J, Ahmad, S, Giedraitis, V, Aarsland, D, Garcia-Gonzalez, P, Abdelnour, C, Alarcón-Martín, E, Alcolea, D, Alegret, M, Alvarez, I, Álvarez, V, Armstrong, N J, Tsolaki, A, Antúnez, C, Appollonio, I, Arcaro, M, Archetti, S, Pastor, A A, Arosio, B, Athanasiu, L, Bailly, H, Banaj, N, Baquero, M, Barral, S, Beiser, A, Nielsen, S F, Nordestgaard, B G, Sáez, M E, Frikke-Schmidt, R, EADB, GR@ACE, DEGESCO, EADI, GERAD, Demgene, FinnGen, ADGC & CHARGE 2022, ' New insights into the genetic etiology of Alzheimer's disease and related dementias ', Nature Genetics, vol. 54, no. 4, pp. 412-436 . https://doi.org/10.1038/s41588-022-01024-z

25 páginas, 6 figuras, 2 tablas
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We perfor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8be61a02e6ef8a704478fd3f819f507d
https://doi.org/10.1038/s41588-022-01024-z

Evaluation of the Electronic Clinical Dementia Rating for Dementia Screening.

Autor: Nosheny RL; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco.; Department of Radiology and Biomedical Imaging, University of California, San Francisco.; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Yen D; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri., Howell T; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Camacho M; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Moulder K; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri., Gummadi S; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Bui C; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Kannan S; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Ashford MT; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Knight K; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Mayo C; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri., McMillan M; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri., Petersen RC; Department of Neurology, Mayo Clinic, Rochester, Minnesota., Stricker NH; Division of Neurocognitive Disorders, Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota., Roberson ED; Alzheimer's Disease Center, Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology, University of Alabama at Birmingham, Birmingham., Chambless C; Alzheimer's Disease Center, Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology, University of Alabama at Birmingham, Birmingham., Gersteneker A; Division of Neuropsychology, Department of Neurology, The University of Alabama at Birmingham, Birmingham., Martin R; Division of Neuropsychology, Department of Neurology, The University of Alabama at Birmingham, Birmingham., Kennedy R; Division of Gerontology, Geriatrics, and Palliative Care, Department of Medicine, University of Alabama at Birmingham, Birmingham., Zhang Y; Alzheimer's Disease Center, Center for Neurodegeneration and Experimental Therapeutics, Department of Neurology, University of Alabama at Birmingham, Birmingham., Kukull W; Department of Epidemiology, University of Washington, Seattle.; National Alzheimer's Coordinating Center, Seattle, Washington., Flenniken D; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Fockler J; Department of Radiology and Biomedical Imaging, University of California, San Francisco., Truran D; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Mackin RS; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco.; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Weiner MW; Department of Psychiatry and Behavioral Sciences, University of California, San Francisco.; Department of Radiology and Biomedical Imaging, University of California, San Francisco.; Northern California Institute for Research and Education, Department of Veterans Affairs Medical Center, San Francisco., Morris JC; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri., Li Y; Knight Alzheimer's Disease Research Center, Department of Neurology, Washington University School of Medicine, St Louis, Missouri.; Department of Biostatistics, Washington University School of Medicine, St Louis, Missouri.

Publikováno v: JAMA network open [JAMA Netw Open] 2023 Sep 05; Vol. 6 (9), pp. e2333786. Date of Electronic Publication: 2023 Sep 05.

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing

Autor: KUNKLE, B. W., GRENIER-BOLEY, B., SIMS, R., BIS, J. C., DAMOTTE, V., NAJ, A. C., BOLAND, A., VRONSKAYA, M., VAN DER LEE, S. J., AMLIE-WOLF, A., BELLENGUEZ, C., FRIZATTI, A., CHOURAKI, V., MARTIN, E. R., SLEEGERS, K., BADARINARAYAN, N., JAKOBSDOTTIR, J., HAMILTON-NELSON, K. L., MORENO-GRAU, S., OLASO, R., RAYBOULD, R., CHEN, Y., KUZMA, A. B., HILTUNEN, M., MORGAN, T., AHMAD, S., VARDARAJAN, B. N., EPELBAUM, J., HOFFMANN, P., BOADA, M., BEECHAM, G. W., GARNIER, J. G., HAROLD, D., FITZPATRICK, A. L., VALLADARES, O., MOUTET, M. L., GERRISH, A., SMITH, A. V., QU, L., BACQ, D., DENNING, N., JIAN, X., ZHAO, Y., DEL ZOMPO, M., FOX, N. C., CHOI, S. H., MATEO, I., HUGHES, J. T., ADAMS, H. H., MALAMON, J., SANCHEZ-GARCIA, F., PATEL, Y., BRODY, J. A., DOMBROSKI, B. A., NARANJO, M. C. D., DANIILIDOU, M., EIRIKSDOTTIR, G., MUKHERJEE, S., WALLON, D., UPHILL, J., ASPELUND, T., CANTWELL, L. B., GARZIA, F., GALIMBERTI, D., HOFER, E., BUTKIEWICZ, M., FIN, B., SCARPINI, E., SARNOWSKI, C., BUSH, W. S., MESLAGE, S., KORNHUBER, J., WHITE, C. C., SONG, Y., BARBER, R. C., ENGELBORGHS, S., SORDON, S., VOIJNOVIC, D., ADAMS, P. M., VANDENBERGHE, R., MAYHAUS, M., CUPPLES, L. A., ALBERT, M. S., DE DEYN, P. P., GU, W., HIMALI, J. J., BEEKLY, D., SQUASSINA, A., HARTMANN, A. M., ORELLANA, A., BLACKER, D., RODRIGUEZ-RODRIGUEZ, E., LOVESTONE, S., GARCIA, M. E., DOODY, R. S., MUNOZ-FERNADEZ, C., SUSSAMS, R., LIN, H., FAIRCHILD, T. J., BENITO, Y. A., HOLMES, C., KARAMUJIC-COMIC, H., FROSCH, M. P., THONBERG, H., MAIER, W., ROSCHUPKIN, G., GHETTI, B., GIEDRAITIS, V., KAWALIA, A., LI, S., HUEBINGER, R. M., KILANDER, L., MOEBUS, S., HERNANDEZ, I., KAMBOH, M. I., BRUNDIN, R., TURTON, J., YANG, Q., KATZ, M. J., CONCARI, L., LORD, J., BEISER, A. S., KEENE, C. D., HELISALMI, S., KLOSZEWSKA, I., KUKULL, W. A., KOIVISTO, A. M., LYNCH, A., TARRAGA, L., LARSON, E. B., HAAPASALO, A., LAWLOR, B., MOSLEY, T. H., LIPTON, R. B., SOLFRIZZI, V., GILL, M., LONGSTRETH, W. T. Jr., MONTINE, T. J., FRISARDI, V., DIEZ-FAIREN, M., RIVADENEIRA, F., PETERSEN, R. C., DERAMECOURT, V., ALVAREZ, I., SALANI, F., CIARAMELLA, A., BOERWINKLE, E., REIMAN, E. M., FIEVET, N., ROTTER, J. I., REISCH, J. S., HANON, O., CUPIDI, C., ANDRE UITTERLINDEN, A. G., ROYALL, D. R., DUFOUIL, Carole, MALETTA, R. G., DE ROJAS, I., SANO, M., BRICE, A., CECCHETTI, R., GEORGE-HYSLOP, P. S., RITCHIE, K., TSOLAKI, M., TSUANG, D. W., DUBOIS, B., CRAIG, D., WU, C. K., SOININEN, H., AVRAMIDOU, D., ALBIN, R. L., FRATIGLIONI, L., GERMANOU, A., APOSTOLOVA, L. G., KELLER, L., KOUTROUMANI, M., ARNOLD, S. E., PANZA, F., GKATZIMA, O., ASTHANA, S., HANNEQUIN, D., WHITEHEAD, P., ATWOOD, C. S., CAFFARRA, P., HAMPEL, H., QUINTELA, I., CARRACEDO, A., LANNFELT, L., RUBINSZTEIN, D. C., BARNES, L. L., PASQUIER, F., FROLICH, L., BARRAL, S., MCGUINNESS, B., BEACH, T. G., JOHNSTON, J. A., BECKER, J. T., PASSMORE, P., BIGIO, E. H., SCHOTT, J. M., BIRD, T. D., WARREN, J. D., BOEVE, B. F., LUPTON, M. K., BOWEN, J. D., PROITSI, P., BOXER, A., POWELL, J. F., BURKE, J. R., KAUWE, J. S. K., BURNS, J. M., MANCUSO, M., BUXBAUM, J. D., BONUCCELLI, U., CAIRNS, N. J., MCQUILLIN, A., CAO, C., LIVINGSTON, G., CARLSON, C. S., BASS, N. J., CARLSSON, C. M., HARDY, J., CARNEY, R. M., BRAS, J., CARRASQUILLO, M. M., GUERREIRO, R., ALLEN, M., CHUI, H. C., FISHER, E., MASULLO, C., CROCCO, E. A., DECARLI, C., BISCEGLIO, G., DICK, M., MA, L., DUARA, R., GRAFF-RADFORD, N. R., EVANS, D. A., HODGES, A., FABER, K. M., SCHERER, M., FALLON, K. B., RIEMENSCHNEIDER, M., FARDO, D. W., HEUN, R., FARLOW, M. R., KOLSCH, H., FERRIS, S., LEBER, M., FOROUD, T. M., HEUSER, I., GALASKO, D. R., GIEGLING, I., GEARING, M., HULL, M., GESCHWIND, D. H., GILBERT, J. R., MORRIS, J., GREEN, R. C., MAYO, K., GROWDON, J. H., FEULNER, T., HAMILTON, R. L., HARRELL, L. E., DRICHEL, D., HONIG, L. S., CUSHION, T. D., HUENTELMAN, M. J., HOLLINGWORTH, P., HULETTE, C. M., HYMAN, B. T., MARSHALL, R., JARVIK, G. P., MEGGY, A., ABNER, E., MENZIES, G. E., JIN, L. W., LEONENKO, G., REAL, L. M., JUN, G. R., BALDWIN, C. T., GROZEVA, D., KARYDAS, A., RUSSO, G., KAYE, J. A., KIM, R., JESSEN, F., KOWALL, N. W., VELLAS, B., KRAMER, J. H., VARDY, E., LAFERLA, F. M., JOCKEL, K. H., LAH, J. J., DICHGANS, M., LEVERENZ, J. B., MANN, D., LEVEY, A. I., PICKERING-BROWN, S., LIEBERMAN, A. P., KLOPP, N., LUNETTA, K. L., WICHMANN, H. E., LYKETSOS, C. G., MORGAN, K., MARSON, D. C., BROWN, K., MARTINIUK, F., MEDWAY, C., MASH, D. C., NOTHEN, M. M., MASLIAH, E., HOOPER, N. M., MCCORMICK, W. C., DANIELE, A., MCCURRY, S. M., BAYER, A., MCDAVID, A. N., GALLACHER, J., MCKEE, A. C., VAN DEN BUSSCHE, H., MESULAM, M., BRAYNE, C., MILLER, B. L., RIEDEL-HELLER, S., MILLER, C. A., MILLER, J. W., AL-CHALABI, A., MORRIS, J. C., SHAW, C. E., MYERS, A. J., WILTFANG, J., O'BRYANT, S., OLICHNEY, J. M., ALVAREZ, V., PARISI, J. E., SINGLETON, A. B., PAULSON, H. L., COLLINGE, J., PERRY, W. R., MEAD, S., PESKIND, E., CRIBBS, D. H., ROSSOR, M., PIERCE, A., RYAN, N. S., POON, W. W., NACMIAS, B., POTTER, H., SORBI, S., QUINN, J. F., SACCHINELLI, E., RAJ, A., SPALLETTA, G., RASKIND, M., CALTAGIRONE, C., BOSSU, P., ORFEI, M. D., REISBERG, B., CLARKE, R., REITZ, C., SMITH, A. D., RINGMAN, J. M., WARDEN, D., ROBERSON, E. D., WILCOCK, G., ROGAEVA, E., BRUNI, A. C., ROSEN, H. J., GALLO, M., ROSENBERG, R. N., BEN-SHLOMO, Y., SAGER, M. A., MECOCCI, P., SAYKIN, A. J., PASTOR, P., CUCCARO, M. L., VANCE, J. M., SCHNEIDER, J. A., SCHNEIDER, L. S., SLIFER, S., SEELEY, W. W., SMITH, A. G., SONNEN, J. A., SPINA, S., STERN, R. A., SWERDLOW, R. H., TANG, M., TANZI, R. E., TROJANOWSKI, J. Q., TRONCOSO, J. C., VAN DEERLIN, V. M., VAN ELDIK, L. J., VINTERS, H. V., VONSATTEL, J. P., 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., SABA, Y., ALZHEIMER DISEASE GENETICS, Consortium, EUROPEAN ALZHEIMER'S DISEASE, Initiative, COHORTS FOR, Heart, AGING RESEARCH IN GENOMIC EPIDEMIOLOGY, Consortium, GENETIC ENVIRONMENTAL RISK IN AD/DEFINING GENETIC, Polygenic, ENVIRONMENTAL RISK FOR ALZHEIMER'S DISEASE, Consortium, PILOTTO, A., BULLIDO, M. J., PETERS, O., CRANE, P. K., BENNETT, D., BOSCO, P., COTO, E., BOCCARDI, V., DE JAGER, P. L., LLEO, A., WARNER, N., LOPEZ, O. L., INGELSSON, M., DELOUKAS, P., CRUCHAGA, C., GRAFF, C., GWILLIAM, R., FORNAGE, M., GOATE, A. M., SANCHEZ-JUAN, P., KEHOE, P. G., AMIN, N., ERTEKIN-TANER, N., BERR, C., DEBETTE, Stephanie, LOVE, S., LAUNER, L. J., YOUNKIN, S. G., DARTIGUES, Jean-Francois, CORCORAN, C., IKRAM, M. A., DICKSON, D. W., NICOLAS, G., CAMPION, D., TSCHANZ, J., SCHMIDT, H., HAKONARSON, H., CLARIMON, J., MUNGER, R., SCHMIDT, R., FARRER, L. A., VAN BROECKHOVEN, C., M, C. O' Donovan, DESTEFANO, A. L., JONES, L., HAINES, J. L., DELEUZE, J. F., OWEN, M. 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Publikováno v: NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Genetics, 51(3), 414-+. Nature Publishing Group
2019, ' Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
Nature Genetics, 51(3), 414-430. Nature Publishing Group
Kunkle, B W, Grenier-Boley, B, Sims, R, Bis, J C, Damotte, V, Naj, A C, Boland, A, Vronskaya, M, van der Lee, S J, Amlie-Wolf, A, Bellenguez, C, Frizatti, A, Chouraki, V, Martin, E R, Sleegers, K, Badarinarayan, N, Jakobsdottir, J, Hamilton-Nelson, K L, Moreno-Grau, S, Olaso, R, Raybould, R, Chen, Y, Kuzma, A B, Hiltunen, M, Morgan, T, Ahmad, S, Vardarajan, B N, Epelbaum, J, Hoffmann, P, Boada, M, Beecham, G W, Garnier, J G, Harold, D, Fitzpatrick, A L, Valladares, O, Moutet, M L, Gerrish, A, Smith, A V, Qu, L, Bacq, D, Denning, N, Jian, X, Zhao, Y, Del Zompo, M, Fox, N C, Choi, S H, Mateo, I, Hughes, J T, Adams, H H, Malamon, J, Sanchez-Garcia, F, Patel, Y, Brody, J A, Dombroski, B A, Naranjo, M C D, Daniilidou, M, Eiriksdottir, G, Mukherjee, S, Wallon, D, Uphill, J, Aspelund, T, Cantwell, L B, Garzia, F, Galimberti, D, Hofer, E, Butkiewicz, M, Fin, B, Scarpini, E, Sarnowski, C, Bush, W S, Meslage, S, Kornhuber, J, White, C C, Song, Y, Barber, R C, Engelborghs, S, Sordon, S, Voijnovic, D, Adams, P M, Vandenberghe, R, Mayhaus, M, Cupples, L A, Albert, M S, De Deyn, P P, Gu, W, Himali, J J, Beekly, D, Squassina, A, Hartmann, A M, Orellana, A, Blacker, D, Rodriguez-Rodriguez, E, Lovestone, S, Garcia, M E, Doody, R S, Munoz-Fernadez, C, Sussams, R, Lin, H, Fairchild, T J, Benito, Y A, Holmes, C, Karamujić-Čomić, H, Frosch, M P, Thonberg, H, Maier, W, Roschupkin, G, Ghetti, B, Giedraitis, V, Kawalia, A, Li, S, Huebinger, R M, Kilander, L, Moebus, S, Hernández, I, Kamboh, M I, Brundin, R M, Turton, J, Yang, Q, Katz, M J, Concari, L, Lord, J, Beiser, A S, Keene, C D, Helisalmi, S, Kloszewska, I, Kukull, W A, Koivisto, A M, Lynch, A, Tarraga, L, Larson, E B, Haapasalo, A, Lawlor, B, Mosley, T H, Lipton, R B, Solfrizzi, V, Gill, M, Longstreth, W T, Montine, T J, Frisardi, V, Diez-Fairen, M, Rivadeneira, F, Petersen, R C, Deramecourt, V, Alvarez, I, Salani, F, Ciaramella, A, Boerwinkle, E, Reiman, E M, Fievet, N, Rotter, J I, Reisch, J S, Hanon, O, Cupidi, C, Andre Uitterlinden, A G, Royall, D R, Dufouil, C, Maletta, R G, de Rojas, I, Sano, M, Brice, A, Cecchetti, R, George-Hyslop, P S, Ritchie, K, Tsolaki, M, Tsuang, D W, Dubois, B, Craig, D, Wu, C K, Soininen, H, Avramidou, D, Albin, R L, Fratiglioni, L, Germanou, A, Apostolova, L G, Keller, L, Koutroumani, M, Arnold, S E, Panza, F, Gkatzima, O, Asthana, S, Hannequin, D, Whitehead, P, Atwood, C S, Caffarra, P, Hampel, H, Quintela, I, Carracedo, Á, Lannfelt, L, Rubinsztein, D C, Barnes, L L, Pasquier, F, Frölich, L, Barral, S, McGuinness, B, Beach, T G, Johnston, J A, Becker, J T, Passmore, P, Bigio, E H, Schott, J M, Bird, T D, Warren, J D, Boeve, B F, Lupton, M K, Bowen, J D, Proitsi, P, Boxer, A, Powell, J F, Burke, J R, Kauwe, J S K, Burns, J M, Mancuso, M, Buxbaum, J D, Bonuccelli, U, Cairns, N J, McQuillin, A, Cao, C, Livingston, G, Carlson, C S, Bass, N J, Carlsson, C M, Hardy, J, Carney, R M, Bras, J, Carrasquillo, M M, Guerreiro, R, Allen, M, Chui, H C, Fisher, E, Masullo, C, Crocco, E A, DeCarli, C, Bisceglio, G, Dick, M, Ma, L, Duara, R, Graff-Radford, N R, Evans, D A, Hodges, A, Faber, K M, Scherer, M, Fallon, K B, Riemenschneider, M, Fardo, D W, Heun, R, Farlow, M R, Kölsch, H, Ferris, S, Leber, M, Foroud, T M, Heuser, I, Galasko, D R, Giegling, I, Gearing, M, Hüll, M, Geschwind, D H, Gilbert, J R, Morris, J C, Green, R C, Mayo, K, Growdon, J H, Feulner, T, Hamilton, R L, Harrell, L E, Drichel, D, Honig, L S, Cushion, T D, Huentelman, M J, Hollingworth, P, Hulette, C M, Hyman, B T, Marshall, R, Jarvik, G P, Meggy, A, Abner, E, Menzies, G E, Jin, L W, Leonenko, G, Real, L M, Jun, G R, Baldwin, C T, Grozeva, D, Karydas, A, Russo, G, Kaye, J A, Kim, R, Jessen, F, Kowall, N W, Vellas, B, Kramer, J H, Vardy, E, LaFerla, F M, Jöckel, K H, Lah, J J, Dichgans, M, Leverenz, J B, Mann, D, Levey, A I, Pickering-Brown, S, Lieberman, A P, Klopp, N, Lunetta, K L, Wichmann, H E, Lyketsos, C G, Morgan, K, Marson, D C, Brown, K, Martiniuk, F, Medway, C, Mash, D C, Nöthen, M M, Masliah, E, Hooper, N M, McCormick, W C, Daniele, A, McCurry, S M, Bayer, A, McDavid, A N, Gallacher, J, McKee, A C, van den Bussche, H, Mesulam, M, Brayne, C, Miller, B L, Riedel-Heller, S, Miller, C A, Miller, J W, Al-Chalabi, A, Morris, J C, Shaw, C E, Myers, A J, Wiltfang, J, O’Bryant, S, Olichney, J M, Alvarez, V, Parisi, J E, Singleton, A B, Paulson, H L, Collinge, J, Perry, W R, Mead, S, Peskind, E, Cribbs, D H, Rossor, M, Pierce, A, Ryan, N S, Poon, W W, Nacmias, B, Potter, H, Sorbi, S, Quinn, J G, Sacchinelli, E, Raj, A, Spalletta, G, Raskind, M, Caltagirone, C, Bossù, P, Orfei, M D, Reisberg, B, Clarke, R, Reitz, C, Smith, A D, Ringman, J M, Warden, D, Roberson, E D, Wilcock, G, Rogaeva, E, Bruni, A C, Rosen, H J, Gallo, M, Rosenberg, R N, Ben-Shlomo, Y, Sager, M A, Mecocci, P, Saykin, A J, Pastor, P, Cuccaro, M L, Vance, J M, Schneider, J A, Schneider, L S, Slifer, S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tang, M, Tanzi, R E, Trojanowski, J Q, Troncoso, J C, Van Deerlin, V M, Van Eldik, L J, Vinters, H V, Vonsattel, J P, 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, Saba, Y, Pilotto, A, Bullido, M J, Peters, O, Crane, P K, Bennett, D, Bosco, P, Coto, E, Boccardi, V, De Jager, P L, Lleo, A, Warner, N, Lopez, O L, Ingelsson, M, Deloukas, P, Cruchaga, C, Graff, C, Gwilliam, R, Fornage, M, Goate, A M, Sanchez-Juan, P, Kehoe, P G, Amin, N, Ertekin-Taner, N, Berr, C, Debette, S, Love, S, Launer, L J, Younkin, S G, Dartigues, J F, Corcoran, C, Ikram, M A, Dickson, D W, Nicolas, G, Campion, D, Tschanz, J A, Schmidt, H, Hakonarson, H, Clarimon, J, Munger, R, Schmidt, R, Farrer, L A, Van Broeckhoven, C, C. O’Donovan, M, DeStefano, A L, Jones, L, Haines, J L, Deleuze, J F, Owen, M J, Gudnason, V, Mayeux, R, Escott-Price, V, Psaty, B M, Ramirez, A, Wang, L S, Ruiz, A, van Duijn, C M, Holmans, P A, Seshadri, S, Williams, J, Amouyel, P, Schellenberg, G D, Lambert, J C & Pericak-Vance, M A 2019, ' Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
Nature Genetics
Nature Genetics, Nature Publishing Group, 2019, 51 (3), pp.414-430. ⟨10.1038/s41588-019-0358-2⟩
Nature genetics 51(3), 414-430 (2019). doi:10.1038/s41588-019-0358-2
Nature genetics

Risk for late-onset Alzheimers disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::add799dc916d15d988736a5377ca2978
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=2946

Neuropathological lesions and their contribution to dementia and cognitive impairment in a heterogeneous clinical population.

Autor: Godrich D; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Martin ER; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Schellenberg G; Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Pericak-Vance MA; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Cuccaro M; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Scott WK; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA., Kukull W; Department of Epidemiology, University of Washington, Seattle, Washington, USA., Montine T; Department of Pathology, Stanford University, Stanford, California, USA., Beecham GW; Dr. John T MacDonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida, USA.; John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2022 Dec; Vol. 18 (12), pp. 2403-2412. Date of Electronic Publication: 2022 Feb 09.