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. P., Tárraga, L., Tesí, N., Thalamuthu, A., Thomas, T., Tosto, G., Traykov, L., Tremolizzo, L., Tybjærg-Hansen, A., Uitterlinden, A., Ullgren, A., Ulstein, I., Valero, S., Valladares, O., Broeckhoven, C. V., Vance, J., Vardarajan, B. N., van der Lugt, A., Dongen, J. V., van Rooij, J., van Swieten, J., Vandenberghe, R., Verhey, F., Vidal, J. -S., Vogelgsang, J., Vyhnalek, M., Wagner, M., Wallon, D., Wang, L. -S., Wang, R., Weinhold, L., Wiltfang, J., Windle, G., Woods, B., Yannakoulia, M., Zare, H., Zhao, Y., Zhang, X., Zhu, C., Zulaica, M., Laczo, J., Matoska, V., Serpente, M., Assogna, F., Piras, F., Ciullo, V., Shofany, J., Ferrarese, C., Andreoni, S., Sala, G., Zoia, C. P., Zompo, M. D., Benussi, A., Bastiani, P., Takalo, M., Natunen, T., Laatikainen, T., Tuomilehto, J., Antikainen, R., Strandberg, T., Lindström, J., Peltonen, M., Abraham, R., Al-Chalabi, A., Bass, N. J., Brayne, C., Brown, K. S., Collinge, J., Craig, D., Deloukas, P., Fox, N., Gerrish, A., Gill, M., Gwilliam, R., Harold, D., Hollingworth, P., Johnston, J. A., Jones, L., Lawlor, B., Livingston, G., Lovestone, S., Lupton, M., Lynch, A., Mann, D., Mcguinness, B., Mcquillin, A., O’Donovan, M. C., Owen, M. J., Passmore, P., Powell, J. F., Proitsi, P., Rossor, M., Shaw, C. E., Smith, A. D., Gurling, H., Todd, S., Mummery, C., Ryan, N., Lacidogna, G., Adarmes-Gómez, A., Mauleón, A., Pancho, A., Gailhajenet, A., Lafuente, A., Macias-García, D., Martín, E., Pelejà, E., Carrillo, F., Merlín, I. S., Garrote-Espina, L., Vargas, L., Carrion-Claro, M., Marín, M., Labrador, M., Buendia, M., Alonso, M. D., Guitart, M., Moreno, M., Ibarria, M., Periñán, M., Aguilera, N., Gómez-Garre, P., Cañabate, P., Escuela, R., Pineda-Sánchez, R., Vigo-Ortega, R., Jesús, S., Preckler, S., Rodrigo-Herrero, S., Diego, S., Vacca, A., Roveta, F., Salvadori, N., Chipi, E., Boecker, H., Laske, C., Perneczky, R., Anastasiou, C., Janowitz, D., Malik, R., Anastasiou, A., Parveen, K., López-García, S., Antonell, A., Mihova, K. Y., Belezhanska, D., Weber, H., Kochen, S., Solis, P., Medel, N., Lisso, J., Sevillano, Z., Politis, D. G., Cores, V., Cuesta, C., Ortiz, C., Bacha, J. I., Rios, M., Saenz, A., Abalos, M. S., Kohler, E., Palacio, D. L., Etchepareborda, I., Kohler, M., Novack, G., Prestia, F. A., Galeano, P., Castaño, E. M., Germani, S., Toso, C. R., Rojo, M., Ingino, C., Mangone, C., Rubinsztein, D. C., Teipel, S., Fievet, N., Deramerourt, V., Forsell, C., Thonberg, H., Bjerke, M., Roeck, E. D., Martínez-Larrad, M. T., Olivar, N., Cano, A., Macias, J., Maroñas, O., Nuñez-Llaves, R., Olivé, C., Adarmes-Gómez, A. D., Amer-Ferrer, G., Antequera, M., Burguera, J. A., Casajeros, M. J., Martinez de Pancorbo, M., Hevilla, S., Espinosa, M. A. L., Legaz, A., Manzanares, S., Marín-Muñoz, J., Marín, T., Martínez, B., Martínez, V., Martínez-Lage Álvarez, P., Iriarte, M. M., Periñán-Tocino, M. T., Real de Asúa, D., Rodrigo, S., Sastre, I., Vicente, M. P., Vivancos, L., Epelbaum, J., Hannequin, D., Campion, D., Deramecourt, V., Tzourio, C., Brice, A., Dubois, B., Williams, A., Thomas, C., Davies, C., Nash, W., Dowzell, K., Morales, A. C., Bernardo-Harrington, M., Turton, J., Lord, J., Brown, K., Vardy, E., Fisher, E., Warren, J. D., Ryan, N. S., Guerreiro, R., Uphill, J., Bass, N., Heun, R., Kölsch, H., Schürmann, B., Lacour, A., Herold, C., Powell, J., Patel, Y., Hodges, A., Becker, T., Warden, D., Wilcock, G., Clarke, R., Ben-Shlomo, Y., Hooper, N. M., Pickering-Brown, S., Sussams, R., Warner, N., Bayer, A., Heuser, I., Drichel, D., Klopp, N., Mayhaus, M., Riemenschneider, M., Pinchler, S., Feulner, T., Gu, W., van den Bussche, H., Hüll, M., Frölich, L., Wichmann, H. -E., Jöckel, K. -H., O’Donovan, M., Owen, M., Bahrami, S., Bosnes, I., Selnes, P., Bergh, S., Palotie, A., Daly, M., Jacob, H., Matakidou, A., Runz, H., John, S., Plenge, R., Mccarthy, M., Hunkapiller, J., Ehm, M., Waterworth, D., Fox, C., Malarstig, A., Klinger, K., Call, K., Behrens, T., Loerch, P., Mäkelä, T., Kaprio, J., Virolainen, P., Pulkki, K., Kilpi, T., Perola, M., Partanen, J., Pitkäranta, A., Kaarteenaho, R., Vainio, S., Turpeinen, M., Serpi, R., Laitinen, T., Mäkelä, J., Kosma, V. -M., Kujala, U., Tuovila, O., Hendolin, M., Pakkanen, R., Waring, J., Riley-Gillis, B., Liu, J., Biswas, S., Diogo, D., Marshall, C., Hu, X., Gossel, M., Graham, R., Cummings, B., Ripatti, S., Schleutker, J., Arvas, M., Carpén, O., Hinttala, R., Kettunen, J., Mannermaa, A., Laukkanen, J., Julkunen, V., Remes, A., Kälviäinen, R., Peltola, J., Tienari, P., Rinne, J., Ziemann, A., Esmaeeli, S., Smaoui, N., Lehtonen, A., Eaton, S., Lahdenperä, S., van Adelsberg, J., Michon, J., Kerchner, G., Bowers, N., Teng, E., Eicher, J., Mehta, V., Gormley, P., Linden, K., Whelan, C., Xu, F., Pulford, D., Färkkilä, M., Pikkarainen, S., Jussila, A., Blomster, T., Kiviniemi, M., Voutilainen, M., Georgantas, B., Heap, G., Rahimov, F., Usiskin, K., Lu, T., Oh, D., Kalpala, K., Miller, M., Mccarthy, L., Eklund, K., Palomäki, A., Isomäki, P., Pirilä, L., Kaipiainen-Seppänen, O., Huhtakangas, J., Lertratanakul, A., Hochfeld, M., Bing, N., Gordillo, J. 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A., Ollila, T., Seitsonen, S., Uusitalo, H., Aaltonen, V., Uusitalo-Järvinen, H., Luodonpää, M., Hautala, N., Loomis, S., Strauss, E., Podgornaia, A., Hoffman, J., Tasanen, K., Huilaja, L., Hannula-Jouppi, K., Salmi, T., Peltonen, S., Koulu, L., Harvima, I., Wu, Y., Choy, D., Pussinen, P., Salminen, A., Salo, T., Rice, D., Nieminen, P., Palotie, U., Siponen, M., Suominen, L., Mäntylä, P., Gursoy, U., Anttonen, V., Sipilä, K., Davis, J. W., Quarless, D., Petrovski, S., Wigmore, E., Chen, C. -Y., Bronson, P., Tsai, E., Huang, Y., Maranville, J., Shaikho, E., Mohammed, E., Wadhawan, S., Kvikstad, E., Caliskan, M., Chang, D., Bhangale, T., Pendergrass, S., Holzinger, E., Chen, X., Hedman, Å., King, K. S., Wang, C., Xu, E., Auge, F., Chatelain, C., Rajpal, D., Liu, D., Xia, T. -H., Brauer, M., Kurki, M., Karjalainen, J., Havulinna, A., Jalanko, A., Palta, P., della Briotta Parolo, P., Zhou, W., Lemmelä, S., Rivas, M., Harju, J., Lehisto, A., Ganna, A., Llorens, V., Laivuori, H., Rüeger, S., Niemi, M. E., Tukiainen, T., Reeve, M. P., Heyne, H., Palin, K., Garcia-Tabuenca, J., Siirtola, H., Kiiskinen, T., Lee, J., Tsuo, K., Elliott, A., Kristiansson, K., Hyvärinen, K., Ritari, J., Koskinen, M., Pylkäs, K., Kalaoja, M., Karjalainen, M., Mantere, T., Kangasniemi, E., Heikkinen, S., Laakkonen, E., Sipeky, C., Heron, S., Karlsson, A., Jambulingam, D., Rathinakannan, V. S., Kajanne, R., Aavikko, M., Jiménez, M. G., della Briotta Parola, P., Kanai, M., Kaunisto, M., Kilpeläinen, E., Sipilä, T. 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L., Decarli, C., Detoledo, J., Dick, M., Dickson, D. W., Dombroski, B. A., Doody, R. S., Duara, R., Ertekin-Taner, N., Evans, D. A., Fairchild, T. J., Fallon, K. B., Farlow, M. R., Farrell, J. J., Fernandez-Hernandez, V., Ferris, S., Frosch, M. P., Galasko, D. R., Gamboa, A., Gearing, M., Geschwind, D. H., Ghetti, B., Gilbert, J. R., Grabowski, T. J., Graff-Radford, N. R., Grant, S. F. A., Green, R. C., Growdon, J. H., Hakonarson, H., Hall, J., Hamilton, R. L., Harari, O., Harrell, L. E., Haut, J., Head, E., Henderson, V. W., Hernandez, M., Hohman, T., Honig, L. S., Huebinger, R. M., Huentelman, M. J., Hulette, C. M., Hyman, B. T., Hynan, L. S., Ibanez, L., Jarvik, G. P., Jayadev, S., Jin, L. -W., Johnson, K., Johnson, L., Kamboh, M. I., Karydas, A. M., Katz, M. J., Kaye, J. A., Keene, C. D., Khaleeq, A., Kim, R., Knebl, J., Kowall, N. W., Kramer, J. H., Laferla, F. M., Lah, J. J., Larson, E. B., Lee, E. B., Lerner, A., Leung, Y. Y., Leverenz, J. B., Levey, A. 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L., Litkowski, E., Li, S., Liu, X., Loitfelder, M., Manning, A., Maillard, P., Marioni, R., Mazoyer, B., van Lent, D. M., Mei, H., Mishra, A., Nyquist, P., O’Connell, J., Paus, T., Pausova, Z., Raikkonen-Talvitie, K., Riaz, M., Rich, S., Rotter, J., Romero, J., Roshchupkin, G., Saba, Y., Sargurupremraj, M., Schmidt, H., Schmidt, R., Shulman, J. M., Smith, J., Sekhar, H., Rajula, R., Shin, J., Simino, J., Sliz, E., Teumer, A., Thomas, A., Tin, A., Tucker-Drob, E., Vojinovic, D., Wang, Y., Weinstein, G., Williams, D., Wittfeld, K., Yanek, L., Yang, Y., Farrer, L. A., Psaty, B. M., Ghanbari, M., Raj, T., Sachdev, P., Mather, K., Jessen, F., Ikram, M. A., de Mendonça, A., Hort, J., Tsolaki, M., Pericak-Vance, M. A., Amouyel, P., Williams, J., Frikke-Schmidt, R., Clarimon, J., Deleuze, J. -F., Rossi, G., Seshadri, S., Andreassen, O. A., Ingelsson, M., Hiltunen, M., Sleegers, K., Schellenberg, G. D., van Duijn, C. M., Sims, R., van der Flier, W. M., Ruiz, A., Ramirez, A., Lambert J., -C, Jan, Laczo, Vaclav, Matoska, Maria, Serpente, Francesca, Assogna, Fabrizio, Piras, Federica, Piras, Valentina, Ciullo, Jacob, Shofany, Carlo, Ferrarese, Simona, Andreoni, Gessica, Sala, Chiara Paola Zoia, Maria Del Zompo, Benussi, Alberto, Patrizia, Bastiani, Mari, Takalo, Teemu, Natunen, Tiina, Laatikainen, Jaakko, Tuomilehto, Riitta, Antikainen, Timo, Strandberg, Jaana, Lindström, Markku, Peltonen, Richard, Abraham, Ammar, Al-Chalabi, Nicholas, J Bass, Carol, Brayne, Kristelle, S Brown, John, Collinge, David, Craig, Pangiotis, Deloukas, Nick, Fox, Amy, Gerrish, Michael, Gill, Rhian, Gwilliam, Denise, Harold, Paul, Hollingworth, Jarret, A Johnston, Lesley, Jones, Brian, Lawlor, Gill, Livingston, Simon, Lovestone, Michelle, Lupton, Aoibhinn, Lynch, David, Mann, Bernadette, Mcguinness, Andrew, Mcquillin, Michael, C O'Donovan, Michael, J Owen, Peter, Passmore, John, F Powell, Petra, Proitsi, Martin, Rossor, Christopher, E Shaw, A David Smith, 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Järvensivu, Sini, Lähteenmäki, Lotta, Männikkö, Regis, Wong, Hannele, Mattsson, Tero, Hiekkalinna, Teemu, Paajanen, Kalle, Pärn, Javier, Gracia-Tabuenca, Erin, Abner, Perrie, M Adams, Alyssa, Aguirre, Marilyn, S Albert, Roger, L Albin, Mariet, Allen, Lisa, Alvarez, Liana, G Apostolova, Steven, E Arnold, Sanjay, Asthana, Craig, S Atwood, Gayle, Ayres, Clinton, T Baldwin, Robert, C Barber, Lisa, L Barnes, Sandra, Barral, Thomas, G Beach, James, T Becker, Gary, W Beecham, Duane, Beekly, Jennifer, E Below, Penelope, Benchek, Bruno, A Benitez, David, Bennett, John, Bertelson, Flanagan, E Margaret, Thomas, D Bird, Deborah, Blacker, Bradley, F Boeve, James, D Bowen, Adam, Boxer, James, Brewer, James, R Burke, Jeffrey, M Burns, Will, S Bush, Joseph, D Buxbaum, Nigel, J Cairns, Chuanhai, Cao, Christopher, S Carlson, Cynthia, M Carlsson, Regina, M Carney, Minerva, M Carrasquillo, Scott, Chasse, Marie-Francoise, Chesselet, Alessandra, Chesi, Nathaniel, A Chin, Helena, C Chui, Jaeyoon, Chung, Suzanne, Craft, Paul, K Crane, David, H Cribbs, Elizabeth, A Crocco, Carlos, Cruchaga, Michael, L Cuccaro, Munro, Cullum, Eveleen, Darby, Barbara, Davis, Philip, L De Jager, Charles, Decarli, John, Detoledo, Malcolm, Dick, Dennis, W Dickson, Beth, A Dombroski, Rachelle, S Doody, Ranjan, Duara, Nilüfer, Ertekin-Taner, Denis, A Evans, Thomas, J Fairchild, Kenneth, B Fallon, Martin, R Farlow, John, J Farrell, Victoria, Fernandez-Hernandez, Steven, Ferris, Matthew, P Frosch, Brian, Fulton-Howard, Douglas, R Galasko, Adriana, Gamboa, Marla, Gearing, Daniel, H Geschwind, Bernardino, Ghetti, John, R Gilbert, Thomas, J Grabowski, Neill, R Graff-Radford, Struan F, A Grant, Robert, C Green, John, H Growdon, Jonathan, L Haines, Hakon, Hakonarson, James, Hall, Ronald, L Hamilton, Oscar, Harari, Lindy, E Harrell, Jacob, Haut, Elizabeth, Head, Victor, W Henderson, Michelle, Hernandez, Timothy, Hohman, Lawrence, S Honig, Ryan, M Huebinger, Matthew, J Huentelman, Christine, M Hulette, Bradley, T 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Liu, Marisa, Loitfelder, Alisa, Manning, Pauline, Maillard, Riccardo, Marioni, Bernard, Mazoyer, Debora Melo van Lent, Hao, Mei, Aniket, Mishra, Paul, Nyquist, Jeffrey, O'Connell, Yash, Patel, Tomas, Paus, Zdenka, Pausova, Katri, Raikkonen-Talvitie, Moeen, Riaz, Stephen, Rich, Jerome, Rotter, Jose, Romero, Gena, Roshchupkin, Yasaman, Saba, Murali, Sargurupremraj, Helena, Schmidt, Reinhold, Schmidt, Joshua, M Shulman, Jennifer, Smith, Hema, Sekhar, Reddy, Rajula, Jean, Shin, Jeannette, Simino, Eeva, Sliz, Alexander, Teumer, Alvin, Thomas, Adrienne, Tin, Elliot, Tucker-Drob, Dina, Vojinovic, Yanbing, Wang, Galit, Weinstein, Dylan, Williams, Katharina, Wittfeld, Lisa, Yanek, Yunju, Yang

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

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Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Autor: J. M., Fu, Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., Stevens, C. R., Cusick, C., Babadi, M., Banks, E., Collins, B., Dodge, S., Gabriel, S. B., Gauthier, L., Lee, S. K., Liang, L., Ljungdahl, A., Mahjani, B., Sloofman, L., Smirnov, A. N., Barbosa, M., Betancur, C., Brusco, A., Chung, B. H. Y., Cook, E. H., Cuccaro, M. L., Domenici, E., Ferrero, G. B., Gargus, J. J., Herman, G. E., Hertz-Picciotto, I., Maciel, P., Manoach, D. S., Passos-Bueno, M. R., Persico, A., Renieri, A., Sutcliffe, J. S., Tassone, F., Trabetti, E., Campos, G., Cardaropoli, S., Carli, D., Chan, M. C. Y., Fallerini, C., Giorgio, E., Girardi, A. C., Hansen-Kiss, E., Lee, S. L., Lintas, C., Ludena, Y., Nguyen, R., Pavinato, L., Pericak-Vance, M., Pessah, I. N., Schmidt, R. J., Smith, M., Costa, C. I. S., Trajkova, S., Wang, J. Y. T., M. H. C., Yu, Aleksic, B., Artomov, M., Benetti, E., Biscaldi-Schafer, M., Borglum, A. D., Carracedo, A., Chiocchetti, A. G., Coon, H., Doan, R. N., Fernandez-Prieto, M., Freitag, C. M., Gerges, S., Guter, S., Hougaard, D. M., Hultman, C. M., Jacob, S., Kaartinen, M., Kolevzon, A., Kushima, I., Lehtimaki, T., Rizzo, C. L., Maltman, N., Manara, M., Meiri, G., Menashe, I., Miller, J., Minshew, N., Mosconi, M., Ozaki, N., Palotie, A., Parellada, M., Puura, K., Reichenberg, A., Sandin, S., Scherer, S. W., Schlitt, S., Schmitt, L., Schneider-Momm, K., Siper, P. M., Suren, P., Sweeney, J. A., Teufel, K., del Pilar Trelles, M., Weiss, L. A., Yuen, R., Cutler, D. J., De Rubeis, S., Buxbaum, J. D., Daly, M. J., Devlin, B., Roeder, K., Sanders, S. J., Talkowski, M. E.

Publikováno v: Nature genetics, vol 54, iss 9
Nature Genetics
Nature Genetics, 2022, 54 (9), pp.1320-1331. ⟨10.1038/s41588-022-01104-0⟩
Nat Genet
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

International audience; Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants (P

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e272fcce2991b63297b66fd9e9849ad8
http://hdl.handle.net/11562/1073647

Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

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., Roshchupkin, G., Ghetti, B., Giedraitis, V., Kawalia, A., Li, S., Huebinger, R. M., Kilander, L., Moebus, S., Hernandez, 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., Uitterlinden, A. G. A., 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., C. -K., Wu, 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, Carlo, 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, Antonio, 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, Gianfranco, Raskind, M., Caltagirone, C., Bossu, P., Orfei, M. D., Reisberg, B., Clarke, Ronald Victor, Reitz, C., Smith, A. D., Ringman, J. M., Warden, D., Roberson, E. D., Wilcock, G., Rogaeva, E., Bruni, A. C., Rosen, H. J., Gallo, Massimiliano, 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., C. -E., Yu, 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., O'Donovan, M. C., 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.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2601::8146039354cee8a4c3e81bd697d31307
http://hdl.handle.net/10807/142039

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. 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.

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 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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

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