Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Yogen, Patel"'
Autor:
William L. Macken, Micol Falabella, Caroline McKittrick, Chiara Pizzamiglio, Rebecca Ellmers, Kelly Eggleton, Cathy E. Woodward, Yogen Patel, Robyn Labrum, Genomics England Research Consortium, Rahul Phadke, Mary M. Reilly, Catherine DeVile, Anna Sarkozy, Emma Footitt, James Davison, Shamima Rahman, Henry Houlden, Enrico Bugiardini, Rosaline Quinlivan, Michael G. Hanna, Jana Vandrovcova, Robert D. S. Pitceathly
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-9 (2022)
Whole genome sequencing is emerging as a first-line test for rare genetic diseases. In this study, authors maximise diagnoses by supplementing existing semiautomated analyses with clinically driven reevaluation of genomic data by a specialist multidi
Externí odkaz:
https://doaj.org/article/08d61047bd944df7b04fb88435d3cd14
Autor:
Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Abstract Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatm
Externí odkaz:
https://doaj.org/article/2ba7db3ffb1d4355907a9d8ece8ef189
Autor:
Eleni Mavraki, Robyn Labrum, Kate Sergeant, Charlotte L. Alston, Cathy Woodward, Conrad Smith, Charlotte V. Y. Knowles, Yogen Patel, Philip Hodsdon, Jack P. Baines, Emma L. Blakely, James Polke, Robert W. Taylor, Carl Fratter
Publikováno v:
European Journal of Human Genetics. 31:148-163
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders characterised by impaired oxidative phosphorylation. Diagnosis is challenging; >350 genes, both nuclear and mitochondrial DNA (mtDNA) encoded, are known to cause mit
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. E., Mars, N., Pelkonen, M., Kauppi, P., Kankaanranta, H., Harju, T., Close, D., Greenberg, S., Chen, H., Betts, J., Ghosh, S., Salomaa, V., Niiranen, T., Juonala, M., Metsärinne, K., Kähönen, M., Junttila, J., Laakso, M., Pihlajamäki, J., Sinisalo, J., Taskinen, M. -R., Tuomi, T., Challis, B., Peterson, A., Chu, A., Parkkinen, J., Muslin, A., Joensuu, H., Meretoja, T., Aaltonen, L., Mattson, J., Auranen, A., Karihtala, P., Kauppila, S., Auvinen, P., Elenius, K., Popovic, R., Schutzman, J., Loboda, A., Chhibber, A., Lehtonen, H., Mcdonough, S., Crohns, M., Kulkarni, D., Kaarniranta, K., Turunen, J. 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. P., Brein, G., Awaisa, G., Shcherban, A., Donner, K., Loukola, A., Laiho, P., Sistonen, T., Kaiharju, E., Laukkanen, M., Järvensivu, E., Lähteenmäki, S., Männikkö, L., Wong, R., Mattsson, H., Hiekkalinna, T., Paajanen, T., Pärn, K., Gracia-Tabuenca, J., Abner, E., Adams, P. M., Aguirre, A., Albert, M. S., Albin, R. L., Allen, M., Alvarez, L., Apostolova, L. G., Arnold, S. E., Asthana, S., Atwood, C. S., Ayres, G., Baldwin, C. T., Barber, R. C., Barnes, L. L., Beach, T. G., Becker, J. T., Beecham, G. W., Beekly, D., Benitez, B. A., Bennett, D., Bertelson, J., Margaret, F. E., Bird, T. D., Blacker, D., Boeve, B. F., Bowen, J. D., Boxer, A., Brewer, J., Burke, J. R., Burns, J. M., Buxbaum, J. D., Cairns, N. J., Cao, C., Carlson, C. S., Carlsson, C. M., Carney, R. M., Carrasquillo, M. M., Chasse, S., Chesselet, M. -F., Chesi, A., Chin, N. A., Chui, H. C., Craft, S., Crane, P. K., Cribbs, D. H., Crocco, E. A., Cruchaga, C., Cullum, M., Darby, E., Davis, B., De Jager, P. 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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
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
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
Autor:
Melita Irving, Moira Cheung, Ana Beleza-Meireles, Christine Hall, Yogen Patel, S. Lillis, Alessandra Cocca, Shu Yau, Jameela Sheikh, Alistair Calder, Elizabeth Morley, Ataf H. Sabir, Mattias Jansson, Amaka C. Offiah
Publikováno v:
BMC Medical Genomics
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
Background Skeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment techn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15a884fa2654269375be8b4d58be6ff4
https://eprints.whiterose.ac.uk/176215/6/s12920-021-00993-0.pdf
https://eprints.whiterose.ac.uk/176215/6/s12920-021-00993-0.pdf
Autor:
Simona Balestrini, Matthias J. Koepp, Sonia Gandhi, Hannah M. Rickman, Gee Yen Shin, Catherine F. Houlihan, Jonny Anders-Cannon, Katri Silvennoinen, Fenglai Xiao, Sara Zagaglia, Kirsty Hudgell, Mariusz Ziomek, Paul Haimes, Adam Sampson, Annie Parker, J. Helen Cross, Rosemarie Pardington, Eleni Nastouli, Charles Swanton, Josemir W. Sander, Sanjay M. Sisodiya, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Rupert Beale, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva-Todd, Dhruva Biswas, Michael J. Blackman, Dominique Bonnet, Faye Bowker, Malgorzata Broncel, Claire Brooks, Michael D. Buck, Andrew Buckton, Timothy Budd, Alana Burrell, Louise Busby, Claudio Bussi, Simon Butterworth, Matthew Byott, Fiona Byrne, Richard Byrne, Simon Caidan, Joanna Campbell, Johnathan Canton, Ana Cardoso, Nick Carter, Luiz Carvalho, Raffaella Carzaniga, Natalie Chandler, Qu Chen, Peter Cherepanov, Laura Churchward, Graham Clark, Bobbi Clayton, Clementina Cobolli Gigli, Zena Collins, Sally Cottrell, Margaret Crawford, Laura Cubitt, Tom Cullup, Heledd Davies, Patrick Davis, Dara Davison, Vicky Dearing, Solene Debaisieux, Monica Diaz-Romero, Alison Dibbs, Jessica Diring, Paul C. Driscoll, Annalisa D'Avola, Christopher Earl, Amelia Edwards, Chris Ekin, Dimitrios Evangelopoulos, Rupert Faraway, Antony Fearns, Aaron Ferron, Efthymios Fidanis, Dan Fitz, James Fleming, Daniel Frampton, Bruno Frederico, Alessandra Gaiba, Anthony Gait, Steve Gamblin, Kathleen Gärtner, Liam Gaul, Helen M. Golding, Jacki Goldman, Robert Goldstone, Belen Gomez Dominguez, Hui Gong, Paul R. Grant, Maria Greco, Mariana Grobler, Anabel Guedan, Maximiliano G. Gutierrez, Fiona Hackett, Ross Hall, Steinar Halldorsson, Suzanne Harris, Sugera Hashim, Emine Hatipoglu, Lyn Healy, Judith Heaney, Susanne Herbst, Graeme Hewitt, Theresa Higgins, Steve Hindmarsh, Rajnika Hirani, Joshua Hope, Elizabeth Horton, Beth Hoskins, Michael Howell, Louise Howitt, Jacqueline Hoyle, Mint R. Htun, Michael Hubank, Hector Huerga Encabo, Deborah Hughes, Jane Hughes, Almaz Huseynova, Ming-Shih Hwang, Rachael Instrell, Deborah Jackson, Mariam Jamal-Hanjani, Lucy Jenkins, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, George Kassiotis, Gavin Kelly, Louise Kiely, Anastacio King Spert Teixeira, Stuart Kirk, Svend Kjaer, Ellen Knuepfer, Nikita Komarov, Paul Kotzampaltiris, Konstantinos Kousis, Tammy Krylova, Ania Kucharska, Robyn Labrum, Catherine Lambe, Michelle Lappin, Stacey-Ann Lee, Andrew Levett, Lisa Levett, Marcel Levi, Hon Wing Liu, Sam Loughlin, Wei-Ting Lu, James I. MacRae, Akshay Madoo, Julie A. Marczak, Mimmi Martensson, Thomas Martinez, Bishara Marzook, John Matthews, Joachim M. Matz, Samuel McCall, Laura E. McCoy, Fiona McKay, Edel C. McNamara, Carlos M. Minutti, Gita Mistry, Miriam Molina-Arcas, Beatriz Montaner, Kylie Montgomery, Catherine Moore, David Moore, Anastasia Moraiti, Lucia Moreira-Teixeira, Joyita Mukherjee, Cristina Naceur-Lombardelli, Aileen Nelson, Jerome Nicod, Luke Nightingale, Stephanie Nofal, Paul Nurse, Savita Nutan, Caroline Oedekoven, Anne O'Garra, Jean D. O'Leary, Jessica Olsen, Olga O'Neill, Nicola O'Reilly, Paula Ordonez Suarez, Neil Osborne, Amar Pabari, Aleksandra Pajak, Venizelos Papayannopoulos, Stavroula M Paraskevopoulou, Namita Patel, Yogen Patel, Oana Paun, Nigel Peat, Laura Peces-Barba Castano, Ana Perez Caballero, Jimena Perez-Lloret, Magali S. Perrault, Abigail Perrin, Roy Poh, Enzo Z. Poirier, James M. Polke, Marc Pollitt, Lucia Prieto-Godino, Alize Proust, Clinda Puvirajasinghe, Christophe Queval, Vijaya Ramachandran, Abhinay Ramaprasad, Peter Ratcliffe, Laura Reed, Caetano Reis e Sousa, Kayleigh Richardson, Sophie Ridewood, Fiona Roberts, Rowenna Roberts, Angela Rodgers, Pablo Romero Clavijo, Annachiara Rosa, Alice Rossi, Chloe Roustan, Andrew Rowan, Erik Sahai, Aaron Sait, Katarzyna Sala, Emilie Sanchez, Theo Sanderson, Pierre Santucci, Fatima Sardar, Adam Sateriale, Jill A. Saunders, Chelsea Sawyer, Anja Schlott, Edina Schweighoffer, Sandra Segura-Bayona, Rajvee Shah Punatar, Maryam Shahmanesh, Joe Shaw, Mariana Silva Dos Santos, Margaux Silvestre, Matthew Singer, Daniel M. Snell, Ok-Ryul Song, Moira J. Spyer, Louisa Steel, Amy Strange, Adrienne E. Sullivan, Michele S.Y. Tan, Zoe H. Tautz-Davis, Effie Taylor, Gunes Taylor, Harriet B. Taylor, Alison Taylor-Beadling, Fernanda Teixeira Subtil, Berta Terré Torras, Patrick Toolan-Kerr, Francesca Torelli, Tea Toteva, Moritz Treeck, Hadija Trojer, Ming-Han C. Tsai, James M.A. Turner, Melanie Turner, Jernej Ule, Rachel Ulferts, Sharon P. Vanloo, Selvaraju Veeriah, Subramanian Venkatesan, Karen Vousden, Andreas Wack, Claire Walder, Philip A. Walker, Yiran Wang, Sophia Ward, Catharina Wenman, Luke Williams, Matthew J. Williams, Wai Keong Wong, Joshua Wright, Mary Wu, Lauren Wynne, Zheng Xiang, Melvyn Yap, Julian A. Zagalak, Davide Zecchin, Rachel Zillwood, Santhakumari Carthiyaniamma, Jane DeTisi, Julie Dick, Andrea Hill, Karin Kipper, Birinder Kullar, Sarah Norris, Fergus Rugg-Gunn, Rebecca Salvatierra, Gabriel Shaya, Astrid Sloan, Priyanka Singh, James Varley, Ben Whatley
Publikováno v:
Epilepsy & Behavior
Epilepsy and Behavior, 115:107602. Academic Press Inc.
Epilepsy and Behavior, 115:107602. Academic Press Inc.
Highlights • We found a high asymptomatic rate in vulnerable people with epilepsy. • Enhanced surveillance allows to quickly contain outbreaks. • We report a low rate of COVID-19 morbidity and mortality in a long-term care facility. • Prevent
Autor:
Ataf H Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D Calder, Ana Beleza-Meireles, Moira S Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M Hall, Amaka C Offiah, Melita Irving
BACKGROUNDSkeletal dysplasia (SD) conditions are rare genetic diseases of the skeleton, encompassing a heterogeneous group of over 400 disorders, and represent approximately 5% of all congenital anomalies. Developments in genetic and treatment techno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ef8a2642989eb7a89a221d4fc79bc130
https://doi.org/10.21203/rs.3.rs-96770/v1
https://doi.org/10.21203/rs.3.rs-96770/v1
Autor:
Catherine F Houlihan, Nina Vora, Thomas Byrne, Dan Lewer, Gavin Kelly, Judith Heaney, Sonia Gandhi, Moira J Spyer, Rupert Beale, Peter Cherepanov, David Moore, Richard Gilson, Steve Gamblin, George Kassiotis, Laura E McCoy, Charles Swanton, Andrew Hayward, Eleni Nastouli, Jim Aitken, Zoe Allen, Rachel Ambler, Karen Ambrose, Emma Ashton, Alida Avola, Samutheswari Balakrishnan, Caitlin Barns-Jenkins, Genevieve Barr, Sam Barrell, Souradeep Basu, Clare Beesley, Nisha Bhardwaj, Shahnaz Bibi, Ganka Bineva-Todd, Dhruva Biswas, Michael J Blackman, Dominique Bonnet, Faye Bowker, Malgorzata Broncel, Claire Brooks, Michael D Buck, Andrew Buckton, Timothy Budd, Alana Burrell, Louise Busby, Claudio Bussi, Simon Butterworth, Fiona Byrne, Richard Byrne, Simon Caidan, Joanna Campbell, Johnathan Canton, Ana Cardoso, Nick Carter, Luiz Carvalho, Raffaella Carzaniga, Natalie Chandler, Qu Chen, Laura Churchward, Graham Clark, Bobbi Clayton, Clementina Cobolli Gigli, Zena Collins, Sally Cottrell, Margaret Crawford, Laura Cubitt, Tom Cullup, Heledd Davies, Patrick Davis, Dara Davison, Annalisa D'Avola, Vicky Dearing, Solene Debaisieux, Monica Diaz-Romero, Alison Dibbs, Jessica Diring, Paul C Driscoll, Christopher Earl, Amelia Edwards, Chris Ekin, Dimitrios Evangelopoulos, Rupert Faraway, Antony Fearns, Aaron Ferron, Efthymios Fidanis, Dan Fitz, James Fleming, Bruno Frederico, Alessandra Gaiba, Anthony Gait, Liam Gaul, Helen M Golding, Jacki Goldman, Robert Goldstone, Belen Gomez Dominguez, Hui Gong, Paul R Grant, Maria Greco, Mariana Grobler, Anabel Guedan, Maximiliano G Gutierrez, Fiona Hackett, Ross Hall, Steinar Halldorsson, Suzanne Harris, Sugera Hashim, Lyn Healy, Susanne Herbst, Graeme Hewitt, Theresa Higgins, Steve Hindmarsh, Rajnika Hirani, Joshua Hope, Elizabeth Horton, Beth Hoskins, Michael Howell, Louise Howitt, Jacqueline Hoyle, Mint R Htun, Michael Hubank, Hector Huerga Encabo, Deborah Hughes, Jane Hughes, Almaz Huseynova, Ming-Shih Hwang, Rachael Instrell, Deborah Jackson, Mariam Jamal-Hanjani, Lucy Jenkins, Ming Jiang, Mark Johnson, Leigh Jones, Nnennaya Kanu, Louise Kiely, Anastacio King Spert Teixeira, Stuart Kirk, Svend Kjaer, Ellen Knuepfer, Nikita Komarov, Paul Kotzampaltiris, Konstantinos Kousis, Tammy Krylova, Ania Kucharska, Robyn Labrum, Catherine Lambe, Michelle Lappin, Stacey-Ann Lee, Andrew Levett, Lisa Levett, Marcel Levi, Hon-Wing Liu, Sam Loughlin, Wei-Ting Lu, James I MacRae, Akshay Madoo, Julie A Marczak, Mimmi Martensson, Thomas Martinez, Bishara Marzook, John Matthews, Joachim M Matz, Samuel McCall, Fiona McKay, Edel C McNamara, Carlos M Minutti, Gita Mistry, Miriam Molina-Arcas, Beatriz Montaner, Kylie Montgomery, Catherine Moore, Anastasia Moraiti, Lucia Moreira-Teixeira, Joyita Mukherjee, Cristina Naceur-Lombardelli, Aileen Nelson, Jerome Nicod, Luke Nightingale, Stephanie Nofal, Paul Nurse, Savita Nutan, Caroline Oedekoven, Anne O'Garra, Jean D O'Leary, Jessica Olsen, Olga O'Neill, Paula Ordonez Suarez, Nicola O'Reilly, Neil Osborne, Amar Pabari, Aleksandra Pajak, Venizelos Papayannopoulos, Namita Patel, Yogen Patel, Oana Paun, Nigel Peat, Laura Peces-Barba Castano, Ana Perez Caballero, Jimena Perez-Lloret, Magali S Perrault, Abigail Perrin, Roy Poh, Enzo Z Poirier, James M Polke, Marc Pollitt, Lucia Prieto-Godino, Alize Proust, Rajvee Shah Punatar, Clinda Puvirajasinghe, Christophe Queval, Vijaya Ramachandran, Abhinay Ramaprasad, Peter Ratcliffe, Laura Reed, Caetano Reis e Sousa, Kayleigh Richardson, Sophie Ridewood, Rowenna Roberts, Angela Rodgers, Pablo Romero Clavijo, Annachiara Rosa, Alice Rossi, Chloe Roustan, Andrew Rowan, Erik Sahai, Aaron Sait, Katarzyna Sala, Theo Sanderson, Pierre Santucci, Fatima Sardar, Adam Sateriale, Jill A Saunders, Chelsea Sawyer, Anja Schlott, Edina Schweighoffer, Sandra Segura-Bayona, Joe Shaw, Gee Yen Shin, Mariana Silva Dos Santos, Margaux Silvestre, Matthew Singer, Daniel M Snell, Ok-Ryul Song, Louisa Steel, Amy Strange, Adrienne E Sullivan, Michele SY Tan, Zoe H Tautz-Davis, Effie Taylor, Gunes Taylor, Harriet B Taylor, Alison Taylor-Beadling, Fernanda Teixeira Subtil, Berta Terré Torras, Patrick Toolan-Kerr, Francesca Torelli, Tea Toteva, Moritz Treeck, Hadija Trojer, Ming-Han C Tsai, James MA Turner, Melanie Turner, Jernej Ule, Rachel Ulferts, Sharon P Vanloo, Selvaraju Veeriah, Subramanian Venkatesan, Karen Vousden, Andreas Wack, Claire Walder, Philip A Walker, Yiran Wang, Sophia Ward, Catharina Wenman, Luke Wiliams, Matthew J Williams, Wai Keong Wong, Joshua Wright, Mary Wu, Lauren Wynne, Zheng Xiang, Melvyn Yap, Julian A Zagalak, Davide Zecchin, Rachel Zillwood, Rebecca Matthews, Abigail Severn, Sajida Adam, Louise Enfield, Angela McBride, Kathleen Gärtner, Sarah Edwards, Fabiana Lorencatto, Susan Michie, Ed Manley, Maryam Shahmanesh, Hinal Lukha, Paulina Prymas, Hazel McBain, Robert Shortman, Leigh Wood, Claudia Davies, Bethany Williams, Kevin W Ng, Georgina H Cornish, Nikhil Faulkner, Andrew Riddell, Philip Hobson, Ana Agua-Doce, Kerol Bartolovic, Emma Russell, Lotte Carr, Emilie Sanchez, Daniel Frampton, Matthew Byott, Stavroula M Paraskevopoulou, Elise Crayton, Carly Meyer, Triantafylia Gkouleli, Andrea Stoltenberg, Veronica Ranieri, Tom Byrne, Fiona Roberts, Emine Hatipoglu
Publikováno v:
Lancet (London, England)
The Lancet
The Lancet
Autor:
John Hardy, Nick C. Fox, Lena Lilius, Christine Van Broeckhoven, Mindy J. Katz, Carlos Cruchaga, Joshua W. Miller, Carol Brayne, Letizia Concari, Christopher Shaw, Minerva M. Carrasquillo, Richard Mayeux, Anne Boland, Charles DeCarli, Helena C. Chui, Laura B. Cantwell, Yoland Aladro Benito, Chuang Kuo Wu, Elaine R. Peskind, Andrew McDavid, M. Ilyas Kamboh, Amanda Smith, Pascual Sánchez-Juan, Jean-François Deleuze, Jayanadra J. Himali, Thomas H. Mosley, Thomas J. Montine, Chuanhai Cao, Andreas J. Forstner, Thomas G. Beach, Robert Barber, Miquel Aguilar, Liming Qu, Jerome I. Rotter, Matthew J. Huentelman, Christiane Reitz, Christopher J. O'Donnell, Steven G. Younkin, Bradley T. Hyman, Bruce L. Miller, Rachelle S. Doody, Eric B. Larson, Ronald L. Hamilton, Todd E. Golde, Steven E. Arnold, Melissa E. Garcia, Rachel Raybould, Lena Kilander, Mark A. Sager, Kevin Morgan, Kathryn L. Lunetta, William Perry, Joseph D. Buxbaum, Craig S. Atwood, Thomas D. Bird, Michael Conlon O'Donovan, Robert Olaso, Juan Fortea, Susanne Moebus, Lisa L. Barnes, Rachel Marshall, Huntington Potter, Mercè Boada, Shahzad Ahmad, Paolo Caffarra, Daniel C. Marson, Jonathan L. Haines, Perrie M. Adams, John M Olichney, Lars Lannfelt, Stefanie Heilmann-Heimbach, Markus M. Nöthen, Shubhabrata Mukherjee, John Malamon, Xue Wang, Christopher S. Carlson, Karen Ritchie, Roger N. Rosenberg, Paul K. Crane, Alexa S. Beiser, Céline Bellenguez, Robert C. Green, Maria Urbano, Petra Proitsi, John Powell, Elisa Majounie, Ammar Al-Chalabi, Hakon Hakonarson, Yogen Patel, Martin Scherer, Julie Williams, Richard B. Lipton, Vincent Dermecourt, Adam L. Boxer, Gerard D. Schellenberg, David G. Clark, Anita L. DeStefano, Joel H. Kramer, Victoria Alvarez, Nandini Badarinarayan, Oscar L. Lopez, Chris Corcoran, Ubaldo Bonuccelli, Donald R. Royall, James Bowen, Monica Diez Fairen, Tricia A. Thornton-Wells, Nilufer Ertekin-Taner, Florence Pasquier, Martin Ingelsson, Yi Zhao, John R. Gilbert, Valentina Escott-Price, Amanda B. Kuzma, Fabienne Garzia, Reinhard Heun, Otto Valladares, Andrew J. Saykin, Sara Ortega-Cubero, Liana G. Apostolova, Henry L. Paulson, John K Kauwe, Imelda Barber, Carolina Ceballos Diaz, Douglas Galasko, M. Arfan Ikram, Lluís Tárraga, Carlo Caltagirone, Joan S. Reisch, Wolfgang Maier, Bruno Vellas, Rebecca Sims, Angela Hodges, Matthew P. Frosch, Isabel Henández, Annakaisa Haapasalo, Thor Aspelund, Håkan Thonberg, Aimee Pierce, Roger L. Albin, Wayne W. Poon, Rebecca Sussams, Amy Braddel, Ranjan Duara, Albert V. Smith, Kirk C. Wilhelmsen, Gianfranco Spalletta, Simon Lovestone, Peter Passmore, Ana Frank-García, Cynthia M. Carlsson, Jade Chapman, Nathan D. Price, Philip L. De Jager, John M. Ringman, Seung Hoan Choi, Nicola Denning, Michael John Owen, Clinton T. Baldwin, Amalia C. Bruni, Denis A. Evans, Rudolph E. Tanzi, Dominique Campion, Laura Fratiglioni, Alberto Lleó, Per Hoffmann, Carole Dufouil, Charlotte Forsell, Alun Meggy, Charlene Thomas, Robert S. Stern, James B. Leverenz, Tatiana Foroud, William W. Seeley, James J. Lah, Brian A. Lawlor, Kenneth B. Fallon, Matthias Riemenschneider, Ryan M. Huebinger, Regina M. Carney, Clinton B. Wright, Didier Hannequin, Deborah Blacker, Anne Kinhult-Ståhlbom, Ekaterina Rogaeva, Andrew P. Lieberman, Bernardino Ghetti, Linda J. Van Eldik, Bernadette McGuinness, Thomas Fairchild, Margaret A. Pericak-Vance, Ashok Raj, Reinhold Schmidt, Ronald C. Petersen, Harald Hampel, María J. Bullido, Steven L. Carroll, Maria Candida Deniz Naranjo, Kathleen A. Welsh-Bohmer, Myriam Fornage, Joseph F. Quinn, Caroline Graff, Claudia L. Satizabal, Patrice L. Whitehead, David Wallon, Christopher Medway, Lindsay A. Farrer, Vilmundur Gudnason, Peter St George-Hyslop, Pau Pastor, Frank Jessen, Erin L. Abner, Johanna Jakobsdottir, Hieab H.H. Adams, Roberta Cecchetti, Walter A. Kukull, Thomas S. Wingo, Michelle K. Lupton, Valur Emilsson, Susan M. McCurry, Simon Mead, Hilkka Soininen, Sandra Weintraub, Amy Gerrish, Lindy E. Harrell, Lina Keller, Jean-Charles Lambert, Denise Harold, Stephen Todd, Wei Gu, Maura Gallo, Najaf Amin, Lenore J. Launer, Eleonora Sacchinelli, Mikko Hiltunen, Cécile Dulary, Eliecer Coto, Xueqiu Jian, Nathalie Fievet, Patrizia Mecocci, Sarah Taylor, Eric Boerwinkle, Maria Serpente, Ronald G. Munger, Ina Giegling, Carlo Masullo, Aoibhinn Lynch, Eliezer Masliah, Anne M. Koivisto, Chang En Yu, Qiong Yang, Benedetta Nacmias, Wayne C. McCormick, Kristelle Brown, Alessio Squassina, Deborah C. Mash, Brian W. Kunkle, Makrina Daniilidou, Alison Goate, David Carrell, Kara L. Hamilton-Nelson, Sandra Barral, Vincent Chouraki, Kristel Sleegers, Frank J. Wolters, Joseph E. Parisi, Iwona Kłoszewska, Ronald C. Kim, Sonia Moreno-Grau, Marina Arcaro, Carmen Muñoz Fernadez, Vernon S. Pankratz, Duane Beekly, Sabrina Pichler, Gislain Septier, Delphine Bacq, Amanda J. Myers, Adam C. Naj, Frank Martiniuk, Sudha Seshadri, Badri N. Vardarajan, Joshua A. Sonnen, M.-Marsel Mesulam, Howard J. Rosen, James T. Becker, Chiara Fenoglio, Ge Li, Alberto Pilotto, Mary Sano, Olivier Hanon, Honghuang Lin, Jean Paul G. Vonsattel, W. T. Longstreth, Daniela Galimberti, David C. Rubinsztein, RoseMarie Brundin, Vilmantas Giedraitis, Christine M. Hulette, Peter Holmans, Martin Dichgans, Maria Vronskaya, Céline Derbois, Michelangelo Mancuso, Constantine G. Lyketsos, Christophe Tzourio, Jacques Epelbaum, Raffaele Maletta, Mariet Allen, Hong-Dong Li, James R. Burke, Rik Vandenberghe, David G. Mann, Bruce M. Psaty, Lawrence S. Honig, Beth A. Dombroski, Erik D. Roberson, Cornelia M. van Duijn, Benjamin Grenier-Boley, Seppo Helisalmi, Jean-François Dartigues, Russell H. Swerdlow, Paola Bossù, Ashley R. Winslow, Elio Scarpini, Lesley Jones, Sebastien Engelborghs, John Q. Trojanowski, Jeffrey Kaye, Jenny Lord, Chiara Cupidi, Janet A. Johnston, Dan Rujescu, Feroze Golamaully, Anne Braae, Rafael Blesa, L. Adrienne Cupples, Dennis W. Dickson, Gail P. Jarvik, David W. Fardo, David H. Cribbs, Michael Gill, Jose Bras, Allan I. Levey, Jennifer Williamson, Rhodri Thomas, John C. Morris, Lei Yu, Debby W. Tsuang, Annette M. Hartmann, John H. Growdon, John Collinge, Claudine Berr, Fernando Rivadeneira, Oliver Peters, Albert Hofman, Frank M. LaFerla, Vivianna M. Van Deerlin, James Uphill, David A. Bennett, Onofre Combarros, Gudny Eiriksdottir, Jeremy D. Burgess, Melanie L. Dunstan, Elizabeth Crocco, Keeley J. Brookes, Robert R. Graham, Lon S. Schneider, Eden R. Martin, Matt Hill, Neill R. Graff-Radford, Joseph T. Hughes, Vincenzo Solfrizzi, Taniesha Morgan, Antonio Ciaramella, Bruno Dubois, Juan C. Troncoso, Paolo Bosco, Jordi Clarimón, Daniel H. Geschwind, Virginia Boccardi, Barry Reisberg, Timothy W. Behrens, Annette L. Fitzpatrick, Salvatore Spina, Alexis Brice, Eileen H. Bigio, Marla Gearing, Jeffrey M. Burns, Carol A. Miller, Marilyn S. Albert, Sven J. van der Lee, Sandro Sorbi, C. Dirk Keene, Daniel Levy, Antonio Daniele, Eric M. Reiman, Paramita Chakrabarty, Oscar Sotolongo-Grau, Helena Schmidt, Francesco Panza, Murray A. Raskind, Rita Guerreiro, Gyungah Jun, Anna Karydas, Markus Leber, Harry V. Vinters, Cory C. Funk, Charles C. White, Jill R. Murrell, Sid E. O'Bryant, Nigel J. Cairns, Josée Dupuis, Ann C. McKee, Julie A. Schneider, Megan L. Grove, Malcolm B. Dick, Bradley F. Boeve, Jennifer A. Brody, Sanjay Asthana, Agustín Ruiz, Stefan Herms, Yuning Chen, David Craig, Neil W. Kowall, Maria Donata Orfei, JoAnn T. Tschanz, Florentino Sanchez Garcia, Manuel Mayhaus, Alfredo Ramirez, James Turton, André G. Uitterlinden, Davide Seripa, Lee-Way Jin, Kelley Faber, Maria C. Norton, Shuo Li, Steven H. Ferris, Steffi G. Riedel-Heller, Joshua C. Bis, Li-San Wang, Johannes Kornhuber, Peter Paul De Deyn, Martin R. Farlow, Randall L. Woltjer, Gary W. Beecham
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Nature Genetics, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Sims, R, Van Der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Squassina, A, Thomas, R, Brody, J A, Qu, L, Sánchez-Juan, P, Morgan, T, Wolters, F J, Zhao, Y, Garcia, F S, Denning, N, Fornage, M, Malamon, J, Naranjo, M C D, Majounie, E, Mosley, T H, Dombroski, B, Wallon, D, Lupton, M K, Dupuis, J, Whitehead, P, Fratiglioni, L, Medway, C, Jian, X, Mukherjee, S, Keller, L, Brown, K, Lin, H, Cantwell, L B, Panza, F, McGuinness, B, Moreno-Grau, S, Burgess, J D, Solfrizzi, V, Proitsi, P, Adams, H H, Allen, M, Seripa, D, Pastor, P, Cupples, L A, Price, N D, Hannequin, D, Frank-García, A, Levy, D, Chakrabarty, P, Caffarra, P, Giegling, I, Beiser, A S, Giedraitis, V, Hampel, H, Garcia, M E, Wang, X, Lannfelt, L, Mecocci, P, Eiriksdottir, G, Crane, P K, Pasquier, F, Boccardi, V, Henández, I, Barber, R C, Scherer, M, Tarraga, L, Adams, P M, Leber, M, Chen, Y, Albert, M S, Riedel-Heller, S, Emilsson, V, Beekly, D, Braae, A, Schmidt, R, Blacker, D, Masullo, C, Schmidt, H, Doody, R S, Spalletta, G, Jr, W T L, Fairchild, T J, Bossù, P, Lopez, O L, Frosch, M P, Sacchinelli, E, Ghetti, B, Yang, Q, Huebinger, R M, Jessen, F, Li, S, Kamboh, M I, Morris, J C, Sotolongo-Grau, O, Katz, M J, Corcoran, C, Dunstan, M, Braddel, A, Thomas, C, Meggy, A, Marshall, R, Gerrish, A, Chapman, J, Aguilar, M, Taylor, S, Hill, M, Fairén, M D, Hodges, A, Vellas, B, Soininen, H, Kloszewska, I, Daniilidou, M, Uphill, J, Patel, Y, Hughes, J T, Lord, J, Turton, J, Hartmann, A M, Cecchetti, R, Fenoglio, C, Serpente, M, Arcaro, M, Caltagirone, C, Orfei, M D, Ciaramella, A, Pichler, S, Mayhaus, M, Gu, W, Lleó, A, Fortea, J, Blesa, R, Barber, I S, Brookes, K, Cupidi, C, Maletta, R G, Carrell, D, Sorbi, S, Moebus, S, Urbano, M, Pilotto, A, Kornhuber, J, Bosco, P, Todd, S, Craig, D, Johnston, J, Gill, M, Lawlor, B, Lynch, A, Fox, N C, Hardy, J, Albin, R L, Apostolova, L G, Arnold, S E, Asthana, S, Atwood, C S, Baldwin, C T, Barnes, L L, Barral, S, Beach, T G, Becker, J T, Bigio, E H, Bird, T D, Boeve, B F, Bowen, J D, Boxer, A, Burke, J R, Burns, J M, Buxbaum, J D, Cairns, N J, Cao, C, Carlson, C S, Carlsson, C M, Carney, R M, Carrasquillo, M M, Carroll, S L, Diaz, C C, Chui, H C, Clark, D G, Cribbs, D H, Crocco, E A, Decarli, C, Dick, M, Duara, R, Evans, D A, Faber, K M, Fallon, K B, Fardo, D W, Farlow, M R, Ferris, S, Foroud, T M, Galasko, D R, Gearing, M, Geschwind, D H, Gilbert, J R, Graff-Radford, N R, Green, R C, Growdon, J H, Hamilton, R L, Harrell, L E, Honig, L S, Huentelman, M J, Hulette, C M, Hyman, B T, Jarvik, G P, Abner, E, Jin, L W, Jun, G, Karydas, A, Kaye, J A, Kim, R, Kowall, N W, Kramer, J H, Laferla, F M, Lah, J J, Leverenz, J B, Levey, A I, Li, G, Lieberman, A P, Lunetta, K L, Lyketsos, C G, 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, Morris, J C, Murrell, J R, Myers, A J, O'Bryant, S, Olichney, J M, Pankratz, V S, Parisi, J E, Paulson, H L, Perry, W, Peskind, E, Pierce, A, Poon, W W, Potter, H, Quinn, J F, Raj, A, Raskind, M, Reisberg, B, Reitz, C, Ringman, J M, Roberson, E D, Rogaeva, E, Rosen, H J, Rosenberg, R N, Sager, M A, Saykin, A J, Schneider, J A, Schneider, L S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tanzi, R E, Thornton-Wells, T A, 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, Garzia, F, Golamaully, F, Septier, G, Engelborghs, S, Vandenberghe, R, De Deyn, P P, Fernadez, C M, Benito, Y A, Thonberg, H, Forsell, C, Lilius, L, Kinhult-Stählbom, A, Kilander, L, Brundin, R, Concari, L, Helisalmi, S, Koivisto, A M, Haapasalo, A, Dermecourt, V, Fievet, N, Hanon, O, Dufouil, C, Brice, A, Ritchie, K, Dubois, B, Himali, J J, Keene, C D, Tschanz, J, Fitzpatrick, A L, Kukull, W A, Norton, M, Aspelund, T, Larson, E B, Munger, R, Rotter, J I, Lipton, R B, Bullido, M J, Hofman, A, Montine, T J, Coto, E, Boerwinkle, E, Petersen, R C, Alvarez, V, Rivadeneira, F, Reiman, E M, Gallo, M, O'Donnell, C J, Reisch, J S, Bruni, A C, Royall, D R, Dichgans, M, Sano, M, Galimberti, D, St George-Hyslop, P, Scarpini, E, Tsuang, D W, Mancuso, M, Bonuccelli, U, Winslow, A R, Daniele, A, Wu, C K, Peters, O, Nacmias, B, Riemenschneider, M, Heun, R, Brayne, C, Rubinsztein, D C, Bras, J, Guerreiro, R, Al-Chalabi, A, Shaw, C E, Collinge, J, Mann, D, Tsolaki, M, Clarimón, J, Sussams, R, Lovestone, S, O'Donovan, M C, Owen, M J, Behrens, T W, Mead, S, Goate, A M, Uitterlinden, A G, Holmes, C, Cruchaga, C, Ingelsson, M, Bennett, D A, Powell, J, Golde, T E, Graff, C, De Jager, P L, Morgan, K, Ertekin-Taner, N, Combarros, O, Psaty, B M, Passmore, P, Younkin, S G, Berr, C, Gudnason, V, Rujescu, D, Dickson, D W, Dartigues, J F, Destefano, A L, Ortega-Cubero, S, Hakonarson, H, Campion, D, Boada, M, Kauwe, J K, Farrer, L A, Van Broeckhoven, C, Ikram, M A, Jones, L, Haines, J L, Tzourio, C, Launer, L J, Escott-Price, V, Mayeux, R, Deleuze, J F, Amin, N, Holmans, P A, Pericak-Vance, M A, Amouyel, P, Van Duijn, C M, Ramirez, A, Wang, L S, Lambert, J C, Seshadri, S, Williams, J & Schellenberg, G D 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, no. 9, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature Genetics, 49(9), 1373-+. Nature Publishing Group
Nature genetics 49(9), 1373-1384 (2017). doi:10.1038/ng.3916
Sims, R, van der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S-H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Lupton, M K, Proitsi, P, Hodges, A, Patel, Y, Al-Chalabi, A, Shaw, C E, Powell, J 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature genetics
Nature Genetics, 49(9), 1373-1384. Nature Publishing Group
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Nature Genetics, Nature Publishing Group, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Nature Genetics, 2017, 49 (9), pp.1373-1384. ⟨10.1038/ng.3916⟩
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Sims, R, Van Der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Squassina, A, Thomas, R, Brody, J A, Qu, L, Sánchez-Juan, P, Morgan, T, Wolters, F J, Zhao, Y, Garcia, F S, Denning, N, Fornage, M, Malamon, J, Naranjo, M C D, Majounie, E, Mosley, T H, Dombroski, B, Wallon, D, Lupton, M K, Dupuis, J, Whitehead, P, Fratiglioni, L, Medway, C, Jian, X, Mukherjee, S, Keller, L, Brown, K, Lin, H, Cantwell, L B, Panza, F, McGuinness, B, Moreno-Grau, S, Burgess, J D, Solfrizzi, V, Proitsi, P, Adams, H H, Allen, M, Seripa, D, Pastor, P, Cupples, L A, Price, N D, Hannequin, D, Frank-García, A, Levy, D, Chakrabarty, P, Caffarra, P, Giegling, I, Beiser, A S, Giedraitis, V, Hampel, H, Garcia, M E, Wang, X, Lannfelt, L, Mecocci, P, Eiriksdottir, G, Crane, P K, Pasquier, F, Boccardi, V, Henández, I, Barber, R C, Scherer, M, Tarraga, L, Adams, P M, Leber, M, Chen, Y, Albert, M S, Riedel-Heller, S, Emilsson, V, Beekly, D, Braae, A, Schmidt, R, Blacker, D, Masullo, C, Schmidt, H, Doody, R S, Spalletta, G, Jr, W T L, Fairchild, T J, Bossù, P, Lopez, O L, Frosch, M P, Sacchinelli, E, Ghetti, B, Yang, Q, Huebinger, R M, Jessen, F, Li, S, Kamboh, M I, Morris, J C, Sotolongo-Grau, O, Katz, M J, Corcoran, C, Dunstan, M, Braddel, A, Thomas, C, Meggy, A, Marshall, R, Gerrish, A, Chapman, J, Aguilar, M, Taylor, S, Hill, M, Fairén, M D, Hodges, A, Vellas, B, Soininen, H, Kloszewska, I, Daniilidou, M, Uphill, J, Patel, Y, Hughes, J T, Lord, J, Turton, J, Hartmann, A M, Cecchetti, R, Fenoglio, C, Serpente, M, Arcaro, M, Caltagirone, C, Orfei, M D, Ciaramella, A, Pichler, S, Mayhaus, M, Gu, W, Lleó, A, Fortea, J, Blesa, R, Barber, I S, Brookes, K, Cupidi, C, Maletta, R G, Carrell, D, Sorbi, S, Moebus, S, Urbano, M, Pilotto, A, Kornhuber, J, Bosco, P, Todd, S, Craig, D, Johnston, J, Gill, M, Lawlor, B, Lynch, A, Fox, N C, Hardy, J, Albin, R L, Apostolova, L G, Arnold, S E, Asthana, S, Atwood, C S, Baldwin, C T, Barnes, L L, Barral, S, Beach, T G, Becker, J T, Bigio, E H, Bird, T D, Boeve, B F, Bowen, J D, Boxer, A, Burke, J R, Burns, J M, Buxbaum, J D, Cairns, N J, Cao, C, Carlson, C S, Carlsson, C M, Carney, R M, Carrasquillo, M M, Carroll, S L, Diaz, C C, Chui, H C, Clark, D G, Cribbs, D H, Crocco, E A, Decarli, C, Dick, M, Duara, R, Evans, D A, Faber, K M, Fallon, K B, Fardo, D W, Farlow, M R, Ferris, S, Foroud, T M, Galasko, D R, Gearing, M, Geschwind, D H, Gilbert, J R, Graff-Radford, N R, Green, R C, Growdon, J H, Hamilton, R L, Harrell, L E, Honig, L S, Huentelman, M J, Hulette, C M, Hyman, B T, Jarvik, G P, Abner, E, Jin, L W, Jun, G, Karydas, A, Kaye, J A, Kim, R, Kowall, N W, Kramer, J H, Laferla, F M, Lah, J J, Leverenz, J B, Levey, A I, Li, G, Lieberman, A P, Lunetta, K L, Lyketsos, C G, 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, Morris, J C, Murrell, J R, Myers, A J, O'Bryant, S, Olichney, J M, Pankratz, V S, Parisi, J E, Paulson, H L, Perry, W, Peskind, E, Pierce, A, Poon, W W, Potter, H, Quinn, J F, Raj, A, Raskind, M, Reisberg, B, Reitz, C, Ringman, J M, Roberson, E D, Rogaeva, E, Rosen, H J, Rosenberg, R N, Sager, M A, Saykin, A J, Schneider, J A, Schneider, L S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tanzi, R E, Thornton-Wells, T A, 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, Garzia, F, Golamaully, F, Septier, G, Engelborghs, S, Vandenberghe, R, De Deyn, P P, Fernadez, C M, Benito, Y A, Thonberg, H, Forsell, C, Lilius, L, Kinhult-Stählbom, A, Kilander, L, Brundin, R, Concari, L, Helisalmi, S, Koivisto, A M, Haapasalo, A, Dermecourt, V, Fievet, N, Hanon, O, Dufouil, C, Brice, A, Ritchie, K, Dubois, B, Himali, J J, Keene, C D, Tschanz, J, Fitzpatrick, A L, Kukull, W A, Norton, M, Aspelund, T, Larson, E B, Munger, R, Rotter, J I, Lipton, R B, Bullido, M J, Hofman, A, Montine, T J, Coto, E, Boerwinkle, E, Petersen, R C, Alvarez, V, Rivadeneira, F, Reiman, E M, Gallo, M, O'Donnell, C J, Reisch, J S, Bruni, A C, Royall, D R, Dichgans, M, Sano, M, Galimberti, D, St George-Hyslop, P, Scarpini, E, Tsuang, D W, Mancuso, M, Bonuccelli, U, Winslow, A R, Daniele, A, Wu, C K, Peters, O, Nacmias, B, Riemenschneider, M, Heun, R, Brayne, C, Rubinsztein, D C, Bras, J, Guerreiro, R, Al-Chalabi, A, Shaw, C E, Collinge, J, Mann, D, Tsolaki, M, Clarimón, J, Sussams, R, Lovestone, S, O'Donovan, M C, Owen, M J, Behrens, T W, Mead, S, Goate, A M, Uitterlinden, A G, Holmes, C, Cruchaga, C, Ingelsson, M, Bennett, D A, Powell, J, Golde, T E, Graff, C, De Jager, P L, Morgan, K, Ertekin-Taner, N, Combarros, O, Psaty, B M, Passmore, P, Younkin, S G, Berr, C, Gudnason, V, Rujescu, D, Dickson, D W, Dartigues, J F, Destefano, A L, Ortega-Cubero, S, Hakonarson, H, Campion, D, Boada, M, Kauwe, J K, Farrer, L A, Van Broeckhoven, C, Ikram, M A, Jones, L, Haines, J L, Tzourio, C, Launer, L J, Escott-Price, V, Mayeux, R, Deleuze, J F, Amin, N, Holmans, P A, Pericak-Vance, M A, Amouyel, P, Van Duijn, C M, Ramirez, A, Wang, L S, Lambert, J C, Seshadri, S, Williams, J & Schellenberg, G D 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, no. 9, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature Genetics, 49(9), 1373-+. Nature Publishing Group
Nature genetics 49(9), 1373-1384 (2017). doi:10.1038/ng.3916
Sims, R, van der Lee, S J, Naj, A C, Bellenguez, C, Badarinarayan, N, Jakobsdottir, J, Kunkle, B W, Boland, A, Raybould, R, Bis, J C, Martin, E R, Grenier-Boley, B, Heilmann-Heimbach, S, Chouraki, V, Kuzma, A B, Sleegers, K, Vronskaya, M, Ruiz, A, Graham, R R, Olaso, R, Hoffmann, P, Grove, M L, Vardarajan, B N, Hiltunen, M, Nöthen, M M, White, C C, Hamilton-Nelson, K L, Epelbaum, J, Maier, W, Choi, S-H, Beecham, G W, Dulary, C, Herms, S, Smith, A V, Funk, C C, Derbois, C, Forstner, A J, Ahmad, S, Li, H, Bacq, D, Harold, D, Satizabal, C L, Valladares, O, Lupton, M K, Proitsi, P, Hodges, A, Patel, Y, Al-Chalabi, A, Shaw, C E, Powell, J 2017, ' Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease ', Nature Genetics, vol. 49, pp. 1373-1384 . https://doi.org/10.1038/ng.3916
Nature genetics
Nature Genetics, 49(9), 1373-1384. Nature Publishing Group
NATURE GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
International audience; We identified rare coding variants associated with Alzheimer's disease in a three-stage case-control study of 85,133 subjects. In stage 1, we genotyped 34,174 samples using a whole-exome microarray. In stage 2, we tested assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68acea78f51bbfc0ec6d3ecba99842de
https://www.hal.inserm.fr/inserm-02466466/file/ng.3916.pdf
https://www.hal.inserm.fr/inserm-02466466/file/ng.3916.pdf
Publikováno v:
PM&R. 8