نتائج البحث - Gibbs, Raphael

Finnish Parkinson’s disease study integrating protein-protein interaction network data with exome sequencing analysis حسب Siitonen, Ari, Kytövuori, Laura, Nalls, Mike A., Gibbs, Raphael, Hernandez, Dena G., Ylikotila, Pauli, Peltonen, Markku, Singleton, Andrew B., Majamaa, Kari

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A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy حسب Sassi, Celeste, Capozzo, Rosa, Gibbs, Raphael, Crews, Cynthia, Zecca, Chiara, Arcuti, Simona, Copetti, Massimiliano, Barulli, Maria R., Brescia, Vincenzo, Singleton, Andrew B., Logroscino, Giancarlo

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Genetic risk factors in Finnish patients with Parkinson's disease حسب Ylönen, Susanna, Siitonen, Ari, Nalls, Michael A., Ylikotila, Pauli, Autere, Jaana, Eerola-Rautio, Johanna, Gibbs, Raphael, Hiltunen, Mikko, Tienari, Pentti J., Soininen, Hilkka, Singleton, Andrew B., Majamaa, Kari

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Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease حسب Guerreiro, Rita Joao, Lohmann, Ebba, Kinsella, Emma, Bras, Jose Miguel, Luu, Nga, Gurulian, Nicole, Dursun, Burcu, Bilgi, Basar, Santana, Isabel, Hanagasi, Hasmet, Gurvit, Hakan, Gibbs, Raphael, Oliveira, Catarina, Emre, Murat, Singleton, Andrew

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Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients حسب Traynor, Bryan J., Nalls, Michael, Lai, Shiao-Lin, Gibbs, Raphael J., Schymick, Jennifer C., Arepalli, Sampath, Hernandez, Dena, van der Brug, Marcel P., Johnson, Janel O., Dillman, Allissa, Cookson, Mark, Moglia, Cristina, Calvo, Andrea, Restagno, Gabriella, Mora, Gabriele, Chiò, Adriano

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Clinical and Genetic Analyses of Familial and Sporadic Frontotemporal Dementia Patients in Southern Italy حسب Capozzo, Rosa, Sassi, Celeste, Hammer, Monia B., Arcuti, Simona, Zecca, Chiara, Barulli, Maria R., Tortelli, Rosanna, Gibbs, Raphael, Crews, Cynthia, Seripa, Davide, Carnicella, Francesco, Dell’Aquila, Claudia, Rossi, Marco, Tamma, Filippo, Valluzzi, Francesco, Brancasi, Bruno, Panza, Francesco, Singleton, Andrew B., Logroscino, Giancarlo

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Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort حسب Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Corrado, Lucia, D'Alfonso, Sandra, Mazzini, Letizia, Scholz, Sonja W., Dalgard, Clifton, Ding, Jinhui, Gibbs, Raphael J., Chia, Ruth, Traynor, Bryan J., Chiò, Adriano

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Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease() حسب Sassi, Celeste, Guerreiro, Rita, Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Lunnon, Katie, Al-Sarraj, Safa, Brown, Kristelle S., Medway, Chirstopher, Lord, Jenny, Turton, James, Mann, David, Snowden, Julie, Neary, David, Harris, Jeniffer, Bras, Jose, Morgan, Kevin, Powell, John F., Singleton, Andrew, Hardy, John

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Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease حسب Sassi, Celeste, Guerreiro, Rita, Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Al-Sarraj, Safa, Niblock, Michael, Gallo, Jean-Marc, Adnan, Jihad, Killick, Richard, Brown, Kristelle S., Medway, Christopher, Lord, Jenny, Turton, James, Bras, Jose, Morgan, Kevin, Powell, John F., Singleton, Andrew, Hardy, John

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Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease حسب Sassi, Celeste, Ridge, Perry G., Nalls, Michael A., Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Lunnon, Katie, Al-Sarraj, Safa, Brown, Kristelle S., Medway, Christopher, Lord, Jenny, Turton, James, Morgan, Kevin, Powell, John F., Kauwe, John S., Cruchaga, Carlos, Bras, Jose, Goate, Alison M., Singleton, Andrew B., Guerreiro, Rita, Hardy, John

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Differences in the Presentation and Progression of Parkinson’s Disease by Sex حسب Iwaki, Hirotaka, Blauwendraat, Cornelis, Leonard, Hampton L., Makarious, Mary B., Kim, Jonggeol J., Liu, Ganqiang, Maple-Grødem, Jodi, Corvol, Jean-Christophe, Pihlstrøm, Lasse, van Nimwegen, Marlies, Smolensky, Luba, Amondikar, Ninad, Hutten, Samantha J., Frasier, Mark, Nguyen, Khanh-Dung H., Rick, Jacqueline, Eberly, Shirley, Faghri, Faraz, Auinger, Peggy, Scott, Kirsten M., Wijeyekoon, Ruwani, Van Deerlin, Vivianna M., Hernandez, Dena G., Gibbs, Raphael J., Day-Williams, Aaron G., Brice, Alexis, Alves, Guido, Noyce, Alastair J., Tysnes, Ole-Bjørn, Evans, Jonathan R., Breen, David P., Estrada, Karol, Wegel, Claire E., Danjou, Fabrice, Simon, David K., Andreassen, Ole A., Ravina, Bernard, Toft, Mathias, Heutink, Peter, Bloem, Bastiaan R., Weintraub, Daniel, Barker, Roger A., Williams-Gray, Caroline H., van de Warrenburg, Bart P., Van Hilten, Jacobus J., Scherzer, Clemens R., Singleton, Andrew B., Nalls, Mike A.

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Rare coding variants in Phospholipase D3 (PLD3) confer risk for Alzheimer's disease حسب Cruchaga, Carlos, Karch, Celeste M., Jin, Sheng Chih, Benitez, Bruno A., Cai, Yefei, Guerreiro, Rita, Harari, Oscar, Norton, Joanne, Budde, John, Bertelsen, Sarah, Jeng, Amanda T., Cooper, Breanna, Skorupa, Tara, Carrell, David, Levitch, Denise, Hsu, Simon, Choi, Jiyoon, Ryten, Mina, Sassi, Celeste, Bras, Jose, Gibbs, Raphael J., Hernandez, Dena G., Lupton, Michelle K., Powell, John, Forabosco, Paola, Ridge, Perry G., Corcoran, Christopher D., Tschanz, JoAnn T., Norton, Maria C., Munger, Ronald G., Schmutz, Cameron, Leary, Maegan, Demirci, F. Yesim, Bamne, Mikhil N., Wang, Xingbin, Lopez, Oscar L., Ganguli, Mary, Medway, Christopher, Turton, James, Lord, Jenny, Braae, Anne, Barber, Imelda, Brown, Kristelle, Pastor, Pau, Lorenzo-Betancor, Oswaldo, Brkanac, Zoran, Scott, Erick, Topol, Eric, Morgan, Kevin, Rogaeva, Ekaterina, Singleton, Andy, Hardy, John, Kamboh, M. Ilyas, George-Hyslop, Peter St, Cairns, Nigel, Morris, John C., Kauwe, John S.K., Goate, Alison M.

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