A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

Por Porter, Melanie A., Dobson-Stone, Carol, Kwok, John B. J., Schofield, Peter R., Beckett, William, Tassabehji, May
Publicado em 2012

Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease

Por Coupland, Kirsten G., Kim, Woojin S., Halliday, Glenda M., Hallupp, Marianne, Dobson-Stone, Carol, Kwok, John B. J.
Publicado no PLoS One (2016)

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

Por Dobson-Stone, Carol, Hallupp, Marianne, Bartley, Lauren, Shepherd, Claire E., Halliday, Glenda M., Schofield, Peter R., Hodges, John R., Kwok, John B.J.
Publicado em 2012

SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson's Disease in Chinese and Australians

Por Huang, Yue, Wang, Gang, Rowe, Dominic, Wang, Ying, Kwok, John B. J., Xiao, Qin, Mastaglia, Frank, Liu, Jun, Chen, Sheng-Di, Halliday, Glenda
Publicado no Biomed Res Int (2015)

GSK3B and MAPT Polymorphisms Are Associated with Grey Matter and Intracranial Volume in Healthy Individuals

Por Dobson-Stone, Carol, Polly, Patsie, Korgaonkar, Mayuresh S., Williams, Leanne M., Gordon, Evian, Schofield, Peter R., Mather, Karen, Armstrong, Nicola J., Wen, Wei, Sachdev, Perminder S., Kwok, John B. J.
Publicado em 2013

Genetics of Microstructure of the Corpus Callosum in Older Adults

Por Kanchibhotla, Sri C., Mather, Karen A., Thalamuthu, Anbupalam, Zhuang, Lin, Schofield, Peter R., Kwok, John B. J., Ames, David, Wright, Margaret J., Trollor, Julian N., Wen, Wei, Sachdev, Perminder S.
Publicado no PLoS One (2014)

Physiologically generated presenilin 1 lacking exon 8 fails to rescue brain PS1−/− phenotype and forms complexes with wildtype PS1 and nicastrin

Por Brautigam, Hannah, Moreno, Cesar L., Steele, John W., Bogush, Alexey, Dickstein, Dara L., Kwok, John B.J., Schofield, Peter R., Thinakaran, Gopal, Mathews, Paul M., Hof, Patrick R., Gandy, Sam, Ehrlich, Michelle E.
Publicado no Sci Rep (2015)

DNA Methylation of MAPT Gene in Parkinson's Disease Cohorts and Modulation by Vitamin E In Vitro

Por Coupland, Kirsten G., Mellick, Goerge D., Silburn, Peter A., Mather, Karen, Armstrong, Nicola J., Sachdev, Perminder S., Brodaty, Henry, Huang, Yue, Halliday, Glenda M., Hallupp, Marianne, Kim, Woojin S., Dobson-Stone, Carol, Kwok, John B.J.
Publicado em 2013

Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model

Por Dang, Theresa N. T., Dobson-Stone, Carol, Glaros, Elias N., Kim, Woojin S., Hallupp, Marianne, Bartley, Lauren, Piguet, Olivier, Hodges, John R., Halliday, Glenda M., Double, Kay L., Schofield, Peter R., Crouch, Peter J., Kwok, John B. J.
Publicado em 2013

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

Por Dobson-Stone, Carol, Luty, Agnes A., Thompson, Elizabeth M., Blumbergs, Peter, Brooks, William S., Short, Cathy L., Field, Colin D., Panegyres, Peter K., Hecker, Jane, Solski, Jennifer A., Blair, Ian P., Fullerton, Janice M., Halliday, Glenda M., Schofield, Peter R., Kwok, John B. J.
Publicado em 2013

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

Por Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi, Campdelacreu, Jaume, Schmoll, Birgit, Volk, Alexander E., Brooks, William S., Schofield, Peter R., Pastor, Pau, Kwok, John B. J.
Publicado em 2013

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Por Williams, Kelly L., Topp, Simon, Yang, Shu, Smith, Bradley, Fifita, Jennifer A., Warraich, Sadaf T., Zhang, Katharine Y., Farrawell, Natalie, Vance, Caroline, Hu, Xun, Chesi, Alessandra, Leblond, Claire S., Lee, Albert, Rayner, Stephanie L., Sundaramoorthy, Vinod, Dobson-Stone, Carol, Molloy, Mark P., van Blitterswijk, Marka, Dickson, Dennis W., Petersen, Ronald C., Graff-Radford, Neill R., Boeve, Bradley F., Murray, Melissa E., Pottier, Cyril, Don, Emily, Winnick, Claire, McCann, Emily P., Hogan, Alison, Daoud, Hussein, Levert, Annie, Dion, Patrick A., Mitsui, Jun, Ishiura, Hiroyuki, Takahashi, Yuji, Goto, Jun, Kost, Jason, Gellera, Cinzia, Gkazi, Athina Soragia, Miller, Jack, Stockton, Joanne, Brooks, William S., Boundy, Karyn, Polak, Meraida, Muñoz-Blanco, José Luis, Esteban-Pérez, Jesús, Rábano, Alberto, Hardiman, Orla, Morrison, Karen E., Ticozzi, Nicola, Silani, Vincenzo, de Belleroche, Jacqueline, Glass, Jonathan D., Kwok, John B. J., Guillemin, Gilles J., Chung, Roger S., Tsuji, Shoji, Brown, Robert H., García-Redondo, Alberto, Rademakers, Rosa, Landers, John E., Gitler, Aaron D., Rouleau, Guy A., Cole, Nicholas J., Yerbury, Justin J., Atkin, Julie D., Shaw, Christopher E., Nicholson, Garth A., Blair, Ian P.
Publicado no Nat Commun (2016)

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

Por Van Deerlin, Vivianna M., Sleiman, Patrick M. A., Martinez-Lage, Maria, Chen-Plotkin, Alice, Wang, Li-San, Graff-Radford, Neill R, Dickson, Dennis W., Rademakers, Rosa, Boeve, Bradley F., Grossman, Murray, Arnold, Steven E., Mann, David M.A., Pickering-Brown, Stuart M., Seelaar, Harro, Heutink, Peter, van Swieten, John C., Murrell, Jill R., Ghetti, Bernardino, Spina, Salvatore, Grafman, Jordan, Hodges, John, Spillantini, Maria Grazia, Gilman, Sid', Lieberman, Andrew P., Kaye, Jeffrey A., Woltjer, Randall L., Bigio, Eileen H, Mesulam, Marsel, al-Sarraj, Safa, Troakes, Claire, Rosenberg, Roger N., White, Charles L., Ferrer, Isidro, Lladó, Albert, Neumann, Manuela, Kretzschmar, Hans A., Hulette, Christine Marie, Welsh-Bohmer, Kathleen A., Miller, Bruce L, Alzualde, Ainhoa, de Munain, Adolfo Lopez, McKee, Ann C., Gearing, Marla, Levey, Allan I., Lah, James J., Hardy, John, Rohrer, Jonathan D., Lashley, Tammaryn, Mackenzie, Ian R.A., Feldman, Howard H., Hamilton, Ronald L., Dekosky, Steven T., van der Zee, Julie, Kumar-Singh, Samir, Van Broeckhoven, Christine, Mayeux, Richard, Vonsattel, Jean Paul G., Troncoso, Juan C., Kril, Jillian J, Kwok, John B.J., Halliday, Glenda M., Bird, Thomas D., Ince, Paul G., Shaw, Pamela J., Cairns, Nigel J., Morris, John C., McLean, Catriona Ann, DeCarli, Charles, Ellis, William G., Freeman, Stefanie H., Frosch, Matthew P., Growdon, John H., Perl, Daniel P., Sano, Mary, Bennett, David A., Schneider, Julie A., Beach, Thomas G., Reiman, Eric M., Woodruff, Bryan K., Cummings, Jeffrey, Vinters, Harry V., Miller, Carol A., Chui, Helena C., Alafuzoff, Irina, Hartikainen, Päivi, Seilhean, Danielle, Galasko, Douglas, Masliah, Eliezer, Cotman, Carl W., Tuñón, M. Teresa, Martínez, M. Cristina Caballero, Munoz, David G., Carroll, Steven L., Marson, Daniel, Riederer, Peter F., Bogdanovic, Nenad, Schellenberg, Gerard D., Hakonarson, Hakon, Trojanowski, John Q., Lee, Virginia M.-Y.
Publicado em 2010

Frontotemporal dementia and its subtypes: a genome-wide association study

Por Ferrari, Raffaele, Hernandez, Dena G, Nalls, Michael A, Rohrer, Jonathan D, Ramasamy, Adaikalavan, Kwok, John B J, Dobson-Stone, Carol, Brooks, William S, Schofield, Peter R, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Haan, Eric, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Cruchaga, Carlos, Cairns, Nigel J, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Waldö, Maria Landqvist, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R A, Hsiung, Ging-Yuek R, Mann, David M A, Grafman, Jordan, Morris, Christopher M, Attems, Johannes, Griffiths, Timothy D, McKeith, Ian G, Thomas, Alan J, Pietrini, P, Huey, Edward D, Wassermann, Eric M, Baborie, Atik, Jaros, Evelyn, Tierney, Michael C, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Diehl-Schmid, Janine, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter St, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James B, Schlachetzki, J C M, Uphill, James, Collinge, John, Mead, S, Danek, Adrian, Van Deerlin, Vivianna M, Grossman, Murray, Trojanowsk, John Q, van der Zee, Julie, Deschamps, William, Van Langenhove, Tim, Cruts, Marc, Van Broeckhoven, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Gasparoni, Gilles, Pichler, Sabrina, Gu, Wei, Rossor, Martin N, Fox, Nick C, Warren, Jason D, Spillantini, Maria Grazia, Morris, Huw R, Rizzu, Patrizia, Heutink, Peter, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David, Josephs, Keith A, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise G P, Seelaar, Harro, Pijnenburg, Yolande AL, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, M, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebert, Florence, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, Hardy, John, Momeni, Parastoo
Publicado em 2014

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Por Thompson, Paul M., Stein, Jason L., Medland, Sarah E., Hibar, Derrek P., Vasquez, Alejandro Arias, Renteria, Miguel E., Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J., Martin, Nicholas G., Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C., Andreassen, Ole A., Apostolova, Liana G., Appel, Katja, Armstrong, Nicola J., Aribisala, Benjamin, Bastin, Mark E., Bauer, Michael, Bearden, Carrie E., Bergmann, Ørjan, Binder, Elisabeth B., Blangero, John, Bockholt, Henry J., Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I., Booth, Tom, Bowman, Ian J., Bralten, Janita, Brouwer, Rachel M., Brunner, Han G., Brohawn, David G., Buckner, Randy L., Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R., Calhoun, Vince D., Cannon, Dara M., Cantor, Rita M., Carless, Melanie A., Caseras, Xavier, Cavalleri, Gianpiero L., Chakravarty, M. Mallar, Chang, Kiki D., Ching, Christopher R. K., Christoforou, Andrea, Cichon, Sven, Clark, Vincent P., Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Deary, Ian J., de Geus, Eco J. C., den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I., Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D., Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E., Foroud, Tatiana, Fox, Peter T., Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C., Godlewska, Beata, Goldstein, Rita Z., Gollub, Randy L., Grabe, Hans J., Grimm, Oliver, Gruber, Oliver, Guadalupe, Tulio, Gur, Raquel E., Gur, Ruben C., Göring, Harald H. H., Hagenaars, Saskia, Hajek, Tomas, Hall, Geoffrey B., Hall, Jeremy, Hardy, John, Hartman, Catharina A., Hass, Johanna, Hatton, Sean N., Haukvik, Unn K., Hegenscheid, Katrin, Heinz, Andreas, Hickie, Ian B., Ho, Beng-Choon, Hoehn, David, Hoekstra, Pieter J., Hollinshead, Marisa, Holmes, Avram J., Homuth, Georg, Hoogman, Martine, Hong, L. Elliot, Hosten, Norbert, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Hwang, Kristy S., Jack, Clifford R., Jenkinson, Mark, Johnston, Caroline, Jönsson, Erik G., Kahn, René S., Kasperaviciute, Dalia, Kelly, Sinead, Kim, Sungeun, Kochunov, Peter, Koenders, Laura, Krämer, Bernd, Kwok, John B. J., Lagopoulos, Jim, Laje, Gonzalo, Landen, Mikael, Landman, Bennett A., Lauriello, John, Lawrie, Stephen M., Lee, Phil H., Le Hellard, Stephanie, Lemaître, Herve, Leonardo, Cassandra D., Li, Chiang-shan, Liberg, Benny, Liewald, David C., Liu, Xinmin, Lopez, Lorna M., Loth, Eva, Lourdusamy, Anbarasu, Luciano, Michelle, Macciardi, Fabio, Machielsen, Marise W. J., MacQueen, Glenda M., Malt, Ulrik F., Mandl, René, Manoach, Dara S., Martinot, Jean-Luc, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mattingsdal, Morten, Meyer-Lindenberg, Andreas, McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Milaneschi, Yuri, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Moses, Eric K., Mueller, Bryon A., Muñoz Maniega, Susana, Mühleisen, Thomas W., Müller-Myhsok, Bertram, Mwangi, Benson, Nauck, Matthias, Nho, Kwangsik, Nichols, Thomas E., Nilsson, Lars-Göran, Nugent, Allison C., Nyberg, Lars, Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Papalampropoulou-Tsiridou, Melina, Papmeyer, Martina, Paus, Tomas, Pausova, Zdenka, Pearlson, Godfrey D., Penninx, Brenda W., Peterson, Charles P., Pfennig, Andrea, Phillips, Mary, Pike, G. Bruce, Poline, Jean-Baptiste, Potkin, Steven G., Pütz, Benno, Ramasamy, Adaikalavan, Rasmussen, Jerod, Rietschel, Marcella, Rijpkema, Mark, Risacher, Shannon L., Roffman, Joshua L., Roiz-Santiañez, Roberto, Romanczuk-Seiferth, Nina, Rose, Emma J., Royle, Natalie A., Rujescu, Dan, Ryten, Mina, Sachdev, Perminder S., Salami, Alireza, Satterthwaite, Theodore D., Savitz, Jonathan, Saykin, Andrew J., Scanlon, Cathy, Schmaal, Lianne, Schnack, Hugo G., Schork, Andrew J., Schulz, S. Charles, Schür, Remmelt, Seidman, Larry, Shen, Li, Shoemaker, Jody M., Simmons, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soares, Jair C., Sponheim, Scott R., Sprooten, Emma, Starr, John M., Steen, Vidar M., Strakowski, Stephen, Strike, Lachlan, Sussmann, Jessika, Sämann, Philipp G., Teumer, Alexander, Toga, Arthur W., Tordesillas-Gutierrez, Diana, Trabzuni, Daniah, Trost, Sarah, Turner, Jessica, Van den Heuvel, Martijn, van der Wee, Nic J., van Eijk, Kristel, van Erp, Theo G. M., van Haren, Neeltje E. M., van ‘t Ent, Dennis, van Tol, Marie-Jose, Valdés Hernández, Maria C., Veltman, Dick J., Versace, Amelia, Völzke, Henry, Walker, Robert, Walter, Henrik, Wang, Lei, Wardlaw, Joanna M., Weale, Michael E., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Whalley, Heather C., Whelan, Christopher D., White, Tonya, Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Zilles, David, Zwiers, Marcel P., Thalamuthu, Anbupalam, Schofield, Peter R., Freimer, Nelson B., Lawrence, Natalia S., Drevets, Wayne
Publicado em 2014