학술논문

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학술논문
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'학술논문' 에서의 검색결과 49건 | 목록 1~10

  • 1 .
    New insights into the genetic etiology of Alzheimer's disease and related dementias
    저자
    by Bellenguez, C.; Küçükali, F.; Jansen, I. E.; Kleineidam, L.; Moreno-Grau, S., et al. 
    소스
    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
  • 7 .
    Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis
    저자
    by Johnson, JO; Chia, R; Miller, DE; Li, R; Kumaran, R, et al. 
    소스
    ITALSGEN Consortium, International ALS Genomics Consortium, American Genome Center & FALS Sequencing Consortium 2021, ' Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
    JAMA Neurology, 78(10), 1236-1248. AMER MEDICAL ASSOC
    JAMA Neurology
    Johnson, J O, Chia, R, Miller, D E, Li, R, Kumaran, R, Abramzon, Y, Alahmady, N, Renton, A E, Topp, S D, Gibbs, J R, Cookson, M R, Sabir, M S, Dalgard, C L, Troakes, C, Jones, A R, Shatunov, A, Iacoangeli, A, Al Khleifat, A, Ticozzi, N, Silani, V, Gellera, C, Blair, I P, Dobson-Stone, C, Kwok, J B, Bonkowski, E S, Palvadeau, R, Tienari, P J, Morrison, K E, Shaw, P J, Al-Chalabi, A, Brown, R H, Calvo, A, Mora, G, Al-Saif, H, Gotkine, M, Leigh, F, Chang, I J, Perlman, S J, Glass, I, Scott, A I, Shaw, C E, Basak, A N, Landers, J E, Chiò, A, Crawford, T O, Smith, B N, Traynor, B J, Smith, B N, Ticozzi, N, Fallini, C, Gkazi, A S, Topp, S D, Scotter, E L, Kenna, K P, Keagle, P, Tiloca, C, Vance, C, Troakes, C, Colombrita, C, King, A, Pensato, V, Castellotti, B, Baas, F, Ten Asbroek, A L M A, McKenna-Yasek, D, McLaughlin, R L, Polak, M, Asress, S, Esteban-Pérez, J, Stevic, Z, D'Alfonso, S, Mazzini, L, Comi, G P, Del Bo, R, Ceroni, M, Gagliardi, S, Querin, G, Bertolin, C, Van Rheenen, W, Rademakers, R, Van Blitterswijk, M, Lauria, G, Duga, S, Corti, S, Cereda, C, Corrado, L, Sorarù, G, Williams, K L, Nicholson, G A, Blair, I P, Leblond-Manry, C, Rouleau, G A, Hardiman, O, Morrison, K E, Veldink, J H, Van Den Berg, L H, Al-Chalabi, A, Pall, H, Shaw, P J, Turner, M R, Talbot, K, Taroni, F, García-Redondo, A, Wu, Z, Glass, J D, Gellera, C, Ratti, A, Brown, R H, Silani, V, Shaw, C E, Landers, J E, Dalgard, C L, Adeleye, A, Soltis, A R, Alba, C, Viollet, C, Bacikova, D, Hupalo, D N, Sukumar, G, Pollard, H B, Wilkerson, M D, Martinez, E M G, Abramzon, Y, Ahmed, S, Arepalli, S, Baloh, R H, Bowser, R, Brady, C B, Brice, A, Broach, J, Campbell, R H, Camu, W, Chia, R, Cooper-Knock, J, Ding, J, Drepper, C, Drory, V E, Dunckley, T L, Eicher, J D, England, B K, Faghri, F, Feldman, E, Floeter, M K, Fratta, P, Geiger, J T, Gerhard, G, Gibbs, J R, Gibson, S B, Glass, J D, Hardy, J, Harms, M B, Heiman-Patterson, T D, Hernandez, D G, Jansson, L, Kirby, J, Kowall, N W, Laaksovirta, H, Landeck, N, Landi, F, Le Ber, I, Lumbroso, S, Macgowan, D J L, Maragakis, N J, Mora, G, Mouzat, K, Murphy, N A, Myllykangas, L, Nalls, M A, Orrell, R W, Ostrow, L W, Pamphlett, R, Pickering-Brown, S, Pioro, E P, Pletnikova, O, Pliner, H A, Pulst, S M, Ravits, J M, Renton, A E, Rivera, A, Robberecht, W, Rogaeva, E, Rollinson, S, Rothstein, J D, Scholz, S W, Sendtner, M, Shaw, P J, Sidle, K C, Simmons, Z, Singleton, A B, Smith, N, Stone, D J, Tienari, P J, Troncoso, J C, Valori, M, Van Damme, P, Van Deerlin, V M, Van Den Bosch, L, Zinman, L, Landers, J E, Chiò, A, Traynor, B J, Angelocola, S M, Ausiello, F P, Barberis, M, Bartolomei, I, Battistini, S, Bersano, E, Bisogni, G, Borghero, G, Brunetti, M, Cabona, C, Calvo, A, Canale, F, Canosa, A, Cantisani, T A, Capasso, M, Caponnetto, C, Cardinali, P, Carrera, P, Casale, F, Chiò, A, Colletti, T, Conforti, F L, Conte, A, Conti, E, Corbo, M, Cuccu, S, Dalla Bella, E, D'Errico, E, Demarco, G, Dubbioso, R, Ferrarese, C, Ferraro, P M, Filippi, M, Fini, N, Floris, G, Fuda, G, Gallone, S, Gianferrari, G, Giannini, F, Grassano, M, Greco, L, Iazzolino, B, Introna, A, La Bella, V, Lattante, S, Lauria, G, Liguori, R, Logroscino, G, Logullo, F O, Lunetta, C, Mandich, P, Mandrioli, J, Manera, U, Manganelli, F, Marangi, G, Marinou, K, Marrosu, M G, Martinelli, I, Messina, S, Moglia, C, Mora, G, Mosca, L, Murru, M R, Origone, P, Passaniti, C, Petrelli, C, Petrucci, A, Pozzi, S, Pugliatti, M, Quattrini, A, Ricci, C, Riolo, G, Riva, N, Russo, M, Sabatelli, M, Salamone, P, Salivetto, M, Salvi, F, Santarelli, M, Sbaiz, L, Sideri, R, Simone, I, Simonini, C, Spataro, R, Tanel, R, Tedeschi, G, Ticca, A, Torriello, A, Tranquilli, S, Tremolizzo, L, Trojsi, F, Vasta, R, Vacchiano, V, Vita, G, Volanti, P, Zollino, M & Zucchi, E 2021, ' Association of variants in the SPTLC1 gene with juvenile amyotrophic lateral sclerosis ', JAMA Neurology, vol. 78, no. 10, pp. 1236-1248 . https://doi.org/10.1001/jamaneurol.2021.2598
    JAMA Neurology, 78(10), 1236-1248. American Medical Association
  • 7 .
    Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing
    저자
    by KUNKLE, B. W.; GRENIER-BOLEY, B.; SIMS, R.; BIS, J. C.; DAMOTTE, V., et al. 
    소스
    NATURE GENETICS
    r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
    instname
    Nature Genetics, 51(3), 414-+. Nature Publishing Group
    2019, ' Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
    Nature Genetics, 51(3), 414-430. Nature Publishing Group
    Kunkle, B W, Grenier-Boley, B, Sims, R, Bis, J C, Damotte, V, Naj, A C, Boland, A, Vronskaya, M, van der Lee, S J, Amlie-Wolf, A, Bellenguez, C, Frizatti, A, Chouraki, V, Martin, E R, Sleegers, K, Badarinarayan, N, Jakobsdottir, J, Hamilton-Nelson, K L, Moreno-Grau, S, Olaso, R, Raybould, R, Chen, Y, Kuzma, A B, Hiltunen, M, Morgan, T, Ahmad, S, Vardarajan, B N, Epelbaum, J, Hoffmann, P, Boada, M, Beecham, G W, Garnier, J G, Harold, D, Fitzpatrick, A L, Valladares, O, Moutet, M L, Gerrish, A, Smith, A V, Qu, L, Bacq, D, Denning, N, Jian, X, Zhao, Y, Del Zompo, M, Fox, N C, Choi, S H, Mateo, I, Hughes, J T, Adams, H H, Malamon, J, Sanchez-Garcia, F, Patel, Y, Brody, J A, Dombroski, B A, Naranjo, M C D, Daniilidou, M, Eiriksdottir, G, Mukherjee, S, Wallon, D, Uphill, J, Aspelund, T, Cantwell, L B, Garzia, F, Galimberti, D, Hofer, E, Butkiewicz, M, Fin, B, Scarpini, E, Sarnowski, C, Bush, W S, Meslage, S, Kornhuber, J, White, C C, Song, Y, Barber, R C, Engelborghs, S, Sordon, S, Voijnovic, D, Adams, P M, Vandenberghe, R, Mayhaus, M, Cupples, L A, Albert, M S, De Deyn, P P, Gu, W, Himali, J J, Beekly, D, Squassina, A, Hartmann, A M, Orellana, A, Blacker, D, Rodriguez-Rodriguez, E, Lovestone, S, Garcia, M E, Doody, R S, Munoz-Fernadez, C, Sussams, R, Lin, H, Fairchild, T J, Benito, Y A, Holmes, C, Karamujić-Čomić, H, Frosch, M P, Thonberg, H, Maier, W, Roschupkin, G, Ghetti, B, Giedraitis, V, Kawalia, A, Li, S, Huebinger, R M, Kilander, L, Moebus, S, Hernández, I, Kamboh, M I, Brundin, R M, Turton, J, Yang, Q, Katz, M J, Concari, L, Lord, J, Beiser, A S, Keene, C D, Helisalmi, S, Kloszewska, I, Kukull, W A, Koivisto, A M, Lynch, A, Tarraga, L, Larson, E B, Haapasalo, A, Lawlor, B, Mosley, T H, Lipton, R B, Solfrizzi, V, Gill, M, Longstreth, W T, Montine, T J, Frisardi, V, Diez-Fairen, M, Rivadeneira, F, Petersen, R C, Deramecourt, V, Alvarez, I, Salani, F, Ciaramella, A, Boerwinkle, E, Reiman, E M, Fievet, N, Rotter, J I, Reisch, J S, Hanon, O, Cupidi, C, Andre Uitterlinden, A G, Royall, D R, Dufouil, C, Maletta, R G, de Rojas, I, Sano, M, Brice, A, Cecchetti, R, George-Hyslop, P S, Ritchie, K, Tsolaki, M, Tsuang, D W, Dubois, B, Craig, D, Wu, C K, Soininen, H, Avramidou, D, Albin, R L, Fratiglioni, L, Germanou, A, Apostolova, L G, Keller, L, Koutroumani, M, Arnold, S E, Panza, F, Gkatzima, O, Asthana, S, Hannequin, D, Whitehead, P, Atwood, C S, Caffarra, P, Hampel, H, Quintela, I, Carracedo, Á, Lannfelt, L, Rubinsztein, D C, Barnes, L L, Pasquier, F, Frölich, L, Barral, S, McGuinness, B, Beach, T G, Johnston, J A, Becker, J T, Passmore, P, Bigio, E H, Schott, J M, Bird, T D, Warren, J D, Boeve, B F, Lupton, M K, Bowen, J D, Proitsi, P, Boxer, A, Powell, J F, Burke, J R, Kauwe, J S K, Burns, J M, Mancuso, M, Buxbaum, J D, Bonuccelli, U, Cairns, N J, McQuillin, A, Cao, C, Livingston, G, Carlson, C S, Bass, N J, Carlsson, C M, Hardy, J, Carney, R M, Bras, J, Carrasquillo, M M, Guerreiro, R, Allen, M, Chui, H C, Fisher, E, Masullo, C, Crocco, E A, DeCarli, C, Bisceglio, G, Dick, M, Ma, L, Duara, R, Graff-Radford, N R, Evans, D A, Hodges, A, Faber, K M, Scherer, M, Fallon, K B, Riemenschneider, M, Fardo, D W, Heun, R, Farlow, M R, Kölsch, H, Ferris, S, Leber, M, Foroud, T M, Heuser, I, Galasko, D R, Giegling, I, Gearing, M, Hüll, M, Geschwind, D H, Gilbert, J R, Morris, J C, Green, R C, Mayo, K, Growdon, J H, Feulner, T, Hamilton, R L, Harrell, L E, Drichel, D, Honig, L S, Cushion, T D, Huentelman, M J, Hollingworth, P, Hulette, C M, Hyman, B T, Marshall, R, Jarvik, G P, Meggy, A, Abner, E, Menzies, G E, Jin, L W, Leonenko, G, Real, L M, Jun, G R, Baldwin, C T, Grozeva, D, Karydas, A, Russo, G, Kaye, J A, Kim, R, Jessen, F, Kowall, N W, Vellas, B, Kramer, J H, Vardy, E, LaFerla, F M, Jöckel, K H, Lah, J J, Dichgans, M, Leverenz, J B, Mann, D, Levey, A I, Pickering-Brown, S, Lieberman, A P, Klopp, N, Lunetta, K L, Wichmann, H E, Lyketsos, C G, Morgan, K, Marson, D C, Brown, K, Martiniuk, F, Medway, C, Mash, D C, Nöthen, M M, Masliah, E, Hooper, N M, McCormick, W C, Daniele, A, McCurry, S M, Bayer, A, McDavid, A N, Gallacher, J, McKee, A C, van den Bussche, H, Mesulam, M, Brayne, C, Miller, B L, Riedel-Heller, S, Miller, C A, Miller, J W, Al-Chalabi, A, Morris, J C, Shaw, C E, Myers, A J, Wiltfang, J, O’Bryant, S, Olichney, J M, Alvarez, V, Parisi, J E, Singleton, A B, Paulson, H L, Collinge, J, Perry, W R, Mead, S, Peskind, E, Cribbs, D H, Rossor, M, Pierce, A, Ryan, N S, Poon, W W, Nacmias, B, Potter, H, Sorbi, S, Quinn, J G, Sacchinelli, E, Raj, A, Spalletta, G, Raskind, M, Caltagirone, C, Bossù, P, Orfei, M D, Reisberg, B, Clarke, R, Reitz, C, Smith, A D, Ringman, J M, Warden, D, Roberson, E D, Wilcock, G, Rogaeva, E, Bruni, A C, Rosen, H J, Gallo, M, Rosenberg, R N, Ben-Shlomo, Y, Sager, M A, Mecocci, P, Saykin, A J, Pastor, P, Cuccaro, M L, Vance, J M, Schneider, J A, Schneider, L S, Slifer, S, Seeley, W W, Smith, A G, Sonnen, J A, Spina, S, Stern, R A, Swerdlow, R H, Tang, M, Tanzi, R E, Trojanowski, J Q, Troncoso, J C, Van Deerlin, V M, Van Eldik, L J, Vinters, H V, Vonsattel, J P, Weintraub, S, Welsh-Bohmer, K A, Wilhelmsen, K C, Williamson, J, Wingo, T S, Woltjer, R L, Wright, C B, Yu, C E, Yu, L, Saba, Y, Pilotto, A, Bullido, M J, Peters, O, Crane, P K, Bennett, D, Bosco, P, Coto, E, Boccardi, V, De Jager, P L, Lleo, A, Warner, N, Lopez, O L, Ingelsson, M, Deloukas, P, Cruchaga, C, Graff, C, Gwilliam, R, Fornage, M, Goate, A M, Sanchez-Juan, P, Kehoe, P G, Amin, N, Ertekin-Taner, N, Berr, C, Debette, S, Love, S, Launer, L J, Younkin, S G, Dartigues, J F, Corcoran, C, Ikram, M A, Dickson, D W, Nicolas, G, Campion, D, Tschanz, J A, Schmidt, H, Hakonarson, H, Clarimon, J, Munger, R, Schmidt, R, Farrer, L A, Van Broeckhoven, C, C. O’Donovan, M, DeStefano, A L, Jones, L, Haines, J L, Deleuze, J F, Owen, M J, Gudnason, V, Mayeux, R, Escott-Price, V, Psaty, B M, Ramirez, A, Wang, L S, Ruiz, A, van Duijn, C M, Holmans, P A, Seshadri, S, Williams, J, Amouyel, P, Schellenberg, G D, Lambert, J C & Pericak-Vance, M A 2019, ' Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing ', Nature Genetics, vol. 51, no. 3, pp. 414-430 . https://doi.org/10.1038/s41588-019-0358-2
    Nature Genetics
    Nature Genetics, Nature Publishing Group, 2019, 51 (3), pp.414-430. ⟨10.1038/s41588-019-0358-2⟩
    Nature genetics 51(3), 414-430 (2019). doi:10.1038/s41588-019-0358-2
    Nature genetics
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