Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Pickering-Brown, Stuart"'
Autor:
Koutsouleris, Nikolaos, Pantelis, Christos, Kambeitz, Joseph, Toivonen, Anna, Turtonen, Otto, Botterweck, Sonja, Kluthausen, Norman, Antoch, Gerald, Caspers, Julian, Wittsack, Hans-Jörg, Blasi, Giuseppe, Pergola, Giulio, Caforio, Grazia, Salokangas, Raimo K R, Fazio, Leonardo, Quarto, Tiziana, Gelao, Barbara, Romano, Raffaella, Andriola, Ileana, Falsetti, Andrea, Barone, Marina, Passiatore, Roberta, Sangiuliano, Marina, Surmann, Marian, Hietala, Jarmo, Bienek, Olga, Dannlowski, Udo, Solana, Ana Beatriz, Abraham, Manuela, Schirmer, Timo, Ferro, Adele, Re, Marta, Sberna, Maurizio, D'Agostino, Armando, Del Fabro, Lorenzo, Bertolino, Alessandro, Perna, Giampaolo, Nobile, Maria, Balestrieri, Matteo, Bonivento, Carolina, Cabras, Giuseppe, Fabbro, Franco, Delvecchio, Giuseppe, Maggioni, Eleonora, Squarcina, Letizia, Gritti, Davide, Brambilla, Paolo, Rossetti, Maria Gloria, Ferrari, Raffaele, Hernandez, Dena Michelle Godwin, Nalls, Michael, Rohrer, Jonathan, Ramasamy, Adaikalavan, Kwok, John, Dobson-Stone, Carol, Brooks, William, Schofield, Peter, Upthegrove, Rachel, Halliday, Glenda, Hodges, John, Piguet, Olivier, Bartley, Lauren, Thompson, Elizabeth, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Borroni, Barbara, Padovani, Alessandro, Wood, Stephen J, Cruchaga, Carlos, Cairns, Nigel, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Forloni, Gianluigi, Albani, Diego, Galimberti, Daniela, Fenoglio, Chiara, Serpente, Maria, Lencer, Rebekka, Scarpini, Elio, Clarimón, Jordi, Lleó, Alberto, Blesa, Rafael, Landqvist Waldö, Maria, Nilsson, Karin, Nilsson, Christer, Mackenzie, Ian R.A., Hsiung, Ging-Yuek, Mann, David, Borgwardt, Stefan, Grafman, Jordan, Morris, Christopher, Attems, Johannes, McKeith, Ian, Thomas, Alan, Pietrini, Pietro, Huey, Edward, Wassermann, Eric, Baborie, Atik, Jaros, Evelyn, Maj, Carlo, Tierney, Michael, Pastor, Pau, Razquin, Cristina, Ortega-Cubero, Sara, Alonso, Elena, Perneczky, Robert, Alexopoulos, Panagiotis, Kurz, Alexander, Rainero, Innocenzo, Rubino, Elisa, Velakoulis, Dennis, Nöthen, Markus M., Pinessi, Lorenzo, Rogaeva, Ekaterina, George-Hyslop, Peter, Rossi, Giacomina, Tagliavini, Fabrizio, Giaccone, Giorgio, Rowe, James, Schlachetzki, Johannes, Uphill, James, Collinge, John, Degenhardt, Franziska, Mead, Simon, Van Deerlin, Vivianna, Marschhauser, Anke, Regenbrecht, Frank, Thoene-Otto, Angelika, Gordulla, Jannis, Ballarini, Tommaso, Engel, Annerose, Pino, Daniele, Leuthold, Dominique, Polyakova, Maryna, Naumann, Heike, Grossman, Murray, Trojanowski, John Q, van der Zee, Julie, Van Broeckhofen, Christine, Cappa, Stefano F, Le Ber, Isabelle, Hannequin, Didier, Golfier, Véronique, Vercelletto, Martine, Mueller, Karsten, Brice, Alexis, Nacmias, Benedetta, Sorbi, Sandro, Bagnoli, Silvia, Piaceri, Irene, Nielsen, Jørgen E, Hjermind, Lena E, Riemenschneider, Matthias, Mayhaus, Manuel, Ibach, Bernd, Villringer, Arno, 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, Danek, Adrian, Snowden, Julie S, Rollinson, Sara, Richardson, Anna, Gerhard, Alexander, Bruni, Amalia C, Maletta, Raffaele, Frangipane, Francesca, Cupidi, Chiara, Bernardi, Livia, Anfossi, Maria, Fassbender, Klaus, Gallo, Maura, Conidi, Maria Elena, Smirne, Nicoletta, Rademakers, Rosa, Baker, Matt, Dickson, Dennis W, Graff-Radford, Neill R, Petersen, Ronald C, Knopman, David S, Josephs, Keith A, Fliessbach, Klaus, Boeve, Bradley F, Parisi, Joseph E, Seeley, William W, Miller, Bruce L, Karydas, Anna M, Rosen, Howard, van Swieten, John C, Dopper, Elise Gp, Seelaar, Harro, Pijnenburg, Yolande Al, Jahn, Holger, Scheltens, Philip, Logroscino, Giancarlo, Capozzo, Rosa, Novelli, Valeria, Puca, Annibale A, Franceschi, Massimo, Postiglione, Alfredo, Milan, Graziella, Sorrentino, Paolo, Kristiansen, Mark, Kornhuber, Johannes, Chiang, Huei-Hsin, Graff, Caroline, Pasquier, Florence, Rollin, Adeline, Deramecourt, Vincent, Lebouvier, Thibaud, Kapogiannis, Dimitrios, Ferrucci, Luigi, Pickering-Brown, Stuart, Singleton, Andrew B, McGuire, Philip, Landwehrmeyer, Bernhard, Hardy, John, Momeni, Parastoo, Barthel, Henryk, Elisa, Semler, Jolina, Lombardi, Christine, von Arnim, Felix, Oberahauser, Kai, Schumacher, Jan, Lehmbeck, Juan-Manuel, Maler, Anderl-Straub, Sarah, Tanja, Richter-Schmidinger, Anke, Hammer-Kaspereit, Timo, Oberstein, Felix, Müller-Sarnowski, Carola, Roßmeier, Albert, Ludolph, Jan, Kassubek, Anja, Schneider, Johannes, Levin, Prudlo, Johannes, Synofzik, Matthis, Wiltfang, Jens, Riedl, Lina, Diehl-Schmid, Janine, Otto, Markus, Meisenzahl, Eva, Falkai, Peter, Dwyer, Dominic B, Schroeter, Matthias L, Consortium, the PRONIA, Haas, Shalaila, Hasan, Alkomiet, Hoff, Claudius, Khanyaree, Ifrah, Melo, Aylin, Muckenhuber-Sternbauer, Susanna, Köhler, Yanis, Urquijo-Castro, Maria-Fernanda, Öztürk, Ömer, Penzel, Nora, Rangnick, Adrian, von Saldern, Sebastian, Spangemacher, Moritz, Tupac, Ana, Weiske, Johanna, Wosgien, Antonia, Krämer, Camilla, Blume, Karsten, Paul, Riya, Hedderich, Dennis, Julkowski, Dominika, Kaiser, Nathalie, Lichtenstein, Thorsten, Milz, Ruth, Nikolaides, Alexandra, Pilgram, Tanja, Seves, Mauro, Wassen, Martina, Andreou, Christina, Dong, Sen, Egloff, Laura, Harrisberger, Fabienne, Heitz, Ulrike, Lenz, Claudia, Leanza, Letizia, Mackintosh, Amatya, Smieskova, Renata, Studerus, Erich, Walter, Anna, Widmayer, Sonja, Popovic, David, Day, Chris, Lowri Griffiths, Sian, Iqbal, Mariam, Pelton, Mirabel, Mallikarjun, Pavan, Stainton, Alexandra, Lin, Ashleigh, Lalousis, Paris, Denissoff, Alexander, Ellilä, Anu, Oeztuerk, Oemer, From, Tiina, Heinimaa, Markus, Ilonen, Tuula, Jalo, Päivi, Laurikainen, Heikki, Luutonen, Antti, Mäkela, Akseli, Paju, Janina, Pesonen, Henri, Säilä, Reetta-Liina
Publikováno v:
JAMA Psychiatry
JAMA psychiatry 79(9), 907 (2022). doi:10.1001/jamapsychiatry.2022.2075
JAMA psychiatry 79(9), 907 (2022). doi:10.1001/jamapsychiatry.2022.2075
Weitere Nicht-UDE Autoren sind nicht genannt. Importance: The behavioral and cognitive symptoms of severe psychotic disorders overlap with those seen in dementia. However, shared brain alterations remain disputed, and their relevance for patients in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::068d3bc6016023ac7d3f942c19f9c68e
https://hdl.handle.net/2318/1894598
https://hdl.handle.net/2318/1894598
Autor:
Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A, Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C, Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E, Cope, Tom E, Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H, Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy JT, Huey, Edward D, Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G, Kristiansen, Mark, Lewis, Patrick A, Lleó, Alberto, Madhan, Gaganjit K, Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O, Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M, Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande AL, Puca, Annibale A, Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna MT, Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B, Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B, Santillo, Alexander F, Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C, Trojanowski, John Q, Van Deerlin, Vivianna M, Van der Zee, Julie, Van Broeckhoven, Christine
Publikováno v:
Neurology, vol 95, iss 24
ObjectiveWe sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e32bb4f8828ce0ff781e4d3babd50200
https://escholarship.org/uc/item/2kg2v5g5
https://escholarship.org/uc/item/2kg2v5g5
Autor:
Moore, Katrina M, Nicholas, Jennifer, Grossman, Murray, McMillan, Corey T, Irwin, David J, Massimo, Lauren, Van Deerlin, Vivianna M, Warren, Jason D, Fox, Nick C, Rossor, Martin N, Mead, Simon, Bocchetta, Martina, Boeve, Bradley F, Knopman, David S, Graff-Radford, Neill R, Forsberg, Leah K, Rademakers, Rosa, Wszolek, Zbigniew K, van Swieten, John C, Jiskoot, Lize C, Meeter, Lieke H, Dopper, Elise Gp, Papma, Janne M, Snowden, Julie S, Saxon, Jennifer, Jones, Matthew, Pickering-Brown, Stuart, Le Ber, Isabelle, Camuzat, Agnès, Brice, Alexis, Caroppo, Paola, Ghidoni, Roberta, Pievani, Michela, Benussi, Luisa, Binetti, Giuliano, Dickerson, Bradford C, Lucente, Diane, Krivensky, Samantha, Graff, Caroline, Öijerstedt, Linn, Fallström, Marie, Thonberg, Håkan, Ghoshal, Nupur, Morris, John C, Borroni, Barbara, Benussi, Alberto, Padovani, Alessandro, Galimberti, Daniela, Scarpini, Elio, Fumagalli, Giorgio G, Mackenzie, Ian R, Hsiung, Ging-Yuek R, Sengdy, Pheth, Boxer, Adam L, Rosen, Howie, Taylor, Joanne B, Synofzik, Matthis, Wilke, Carlo, Sulzer, Patricia, Hodges, John R, Halliday, Glenda, Kwok, John, Sanchez-Valle, Raquel, Lladó, Albert, Borrego-Ecija, Sergi, Santana, Isabel, Almeida, Maria Rosário, Tábuas-Pereira, Miguel, Moreno, Fermin, Barandiaran, Myriam, Indakoetxea, Begoña, Levin, Johannes, Danek, Adrian, Rowe, James B, Cope, Thomas E, Otto, Markus, Anderl-Straub, Sarah, de Mendonça, Alexandre, Maruta, Carolina, Masellis, Mario, Black, Sandra E, Couratier, Philippe, Lautrette, Geraldine, Huey, Edward D, Sorbi, Sandro, Nacmias, Benedetta, Laforce, Robert, Tremblay, Marie-Pier L, Vandenberghe, Rik, Damme, Philip Van, Rogalski, Emily J, Weintraub, Sandra, Gerhard, Alexander, Onyike, Chiadi U, Ducharme, Simon, Papageorgiou, Sokratis G, Ng, Adeline Su Lyn, Brodtmann, Amy, Finger, Elizabeth, Guerreiro, Rita
Publikováno v:
The Lancet. Neurology, vol 19, iss 2
BackgroundFrontotemporal dementia is a heterogenous neurodegenerative disorder, with about a third of cases being genetic. Most of this genetic component is accounted for by mutations in GRN, MAPT, and C9orf72. In this study, we aimed to complement p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5872d2b1cf62dbb3fb678ae6e07af9c4
https://escholarship.org/uc/item/8c33n4x6
https://escholarship.org/uc/item/8c33n4x6
Autor:
Costa, Beatrice, Manzoni, Claudia, Bernal-Quiros, Manuel, Kia, Demis A., Aguilar, Miquel, Alvarez, Ignacio, Alvarez, Victoria, Andreassen, Ole, Anfossi, Maria, Bagnoli, Silvia, Benussi, Luisa, Bernardi, Livia, Binetti, Giuliano, Blackburn, Daniel, Boada, Mercè, Borroni, Barbara, Bowns, Lucy, Bråthen, Geir, Bruni, Amalia C., Chiang, Huei-Hsin, Clarimon, Jordi, Colville, Shuna, Conidi, Maria E., Cope, Tom E., Cruchaga, Carlos, Cupidi, Chiara, Di Battista, Maria Elena, Diehl-Schmid, Janine, Diez-Fairen, Monica, Dols-Icardo, Oriol, Durante, Elisabetta, Flisar, Dušan, Frangipane, Francesca, Galimberti, Daniela, Gallo, Maura, Gallucci, Maurizio, Ghidoni, Roberta, Graff, Caroline, Grafman, Jordan H., Grossman, Murray, Hardy, John, Hernández, Isabel, Holloway, Guy J.T., Huey, Edward D., Illán-Gala, Ignacio, Karydas, Anna, Khoshnood, Behzad, Kramberger, Milica G., Kristiansen, Mark, Lewis, Patrick A., Lleó, Alberto, Madhan, Gaganjit K., Maletta, Raffaele, Maver, Aleš, Menendez-Gonzalez, Manuel, Milan, Graziella, Miller, Bruce, Mol, Merel O., Momeni, Parastoo, Moreno-Grau, Sonia, Morris, Chris M., Nacmias, Benedetta, Nilsson, Christer, Novelli, Valeria, Öijerstedt, Linn, Padovani, Alessandro, Pal, Suvankar, Panchbhaya, Yasmin, Pastor, Pau, Peterlin, Borut, Piaceri, Irene, Pickering-Brown, Stuart, Pijnenburg, Yolande A.L., Puca, Annibale A., Rainero, Innocenzo, Rendina, Antonella, Richardson, Anna M.T., Rogaeva, Ekaterina, Rogelj, Boris, Rollinson, Sara, Rossi, Giacomina, Rossmeier, Carola, Rowe, James B., Rubino, Elisa, Ruiz, Agustín, Sanchez-Valle, Raquel, Sando, Sigrid B., Santillo, Alexander F., Saxon, Jennifer, Scarpini, Elio, Serpente, Maria, Smirne, Nicoletta, Sorbi, Sandro, Suh, EunRan, Tagliavini, Fabrizio, Thompson, Jennifer C., Trojanowski, John Q., Van Deerlin, Vivianna M., van der Zee, Julie, Van Broeckhoven, Christine, van Rooij, Jeroen, Van Swieten, John C., Veronesi, Arianna, Vitale, Emilia, Waldö, Maria L., Woodward, Cathy, Yokoyama, Jennifer, Escott-Price, Valentina, Polke, James M., Ferrari, Raffaele, Boada, Merce, Brathen, Geir, Flisar, Dusan, Hernandez, Isabel, Illan-Gala, Ignacio, Lle, Alberto, Maver, Ales, Oijerstedt, Linn, Al Pijnenburg, Yolande, Richardson, Anna Mt, Ruiz, Agustin, Wald, Maria L.
Publikováno v:
Neurology
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Costa, B, Manzoni, C, Bernal-Quiros, M, Kia, D A, Aguilar, M, Alvarez, I, Alvarez, V, Andreassen, O A, Anfossi, M, Bagnoli, S, Benussi, L, Bernardi, L, Binetti, G, Blackburn, D J, Boada, M, Borroni, B, Bowns, L, Bråthen, G, Bruni, A C, Chiang, H H, Clarimon, J, Colville, S, Conidi, M E, Cope, T E, Cruchaga, C, Cupidi, C, Di Battista, M E, Diehl-Schmid, J, Diez-Fairen, M, Dols-Icardo, O, Durante, E, Flisar, D, Frangipane, F, Galimberti, D, Gallo, M, Gallucci, M, Ghidoni, R, Graff, C, Grafman, J H, Grossman, M, Hardy, J, Hernández, I, Holloway, G J T, Huey, E D, Illán-Gala, I, Karydas, A, Khoshnood, B, Kramberger, M G, Kristiansen, M, Lewis, P A, Lleó, A, Madhan, G K, Maletta, R, Maver, A, Menendez-Gonzalez, M, Milan, G, Miller, B L, Mol, M O, Momeni, P, Moreno-Grau, S, Morris, C M, Nacmias, B, Nilsson, C, Novelli, V, Öijerstedt, L, Padovani, A, Pal, S, Panchbhaya, Y, Pastor, P, Peterlin, B, Piaceri, I, Pickering-Brown, S, Pijnenburg, Y A L, Puca, A A, Rainero, I, Rendina, A, Richardson, A M T, Rogaeva, E, Rogelj, B, Rollinson, S, Rossi, G, Roßmeier, C, Rowe, J B, Rubino, E, Ruiz, A, Sanchez-Valle, R, Sando, S B, Santillo, A F, Saxon, J, Scarpini, E, Serpente, M, Smirne, N, Sorbi, S, Suh, E R, Tagliavini, F, Thompson, J C, Trojanowski, J Q, van Deerlin, V M, van der Zee, J, van Broeckhoven, C, van Rooij, J G J, van Swieten, J C, Veronesi, A, Vitale, E, Waldö, M L, Woodward, C, Yokoyama, J S, Escott-Price, V, Polke, J M & Ferrari, R 2020, ' C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts ', Neurology, vol. 95, no. 24, pp. E3288-E3302 . https://doi.org/10.1212/WNL.0000000000010914
Neurology 95 (2020): E3288–E3302. doi:10.1212/WNL.0000000000010914
info:cnr-pdr/source/autori:Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manuel; Kia, Demis A.; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Merce; Borroni, Barbara; Bowns, Lucy; Brathen, Geir; Bruni, Amalia C.; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E.; Cope, Tom E.; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dusan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Maurizio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H.; Grossman, Murray; Hardy, John; Hernandez, Isabel; Holloway, Guy J. T.; Huey, Edward D.; Illan-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G.; Kristiansen, Mark; Lewis, Patrick A.; Lle, Alberto; Madhan, Gaganjit K.; Maletta, Raffaele; Maver, Ales; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce; Mol, Merel O.; Momeni, Parastoo; Moreno-Grau, Sonia; Morris, Chris M.; Nacmias, Benedetta; Nilsson, Christer; Novelli, Valeria; Oijerstedt, Linn; Padovani, Alessandro; Pal, Suvankar; Panchbhaya, Yasmin; Pastor, Pau; Peterlin, Borut; Piaceri, Irene; Pickering-Brown, Stuart; Al Pijnenburg, Yolande; Puca, Annibale A.; Rainero, Innocenzo; Rendina, Antonella; Richardson, Anna Mt; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rossi, Giacomina; Rossmeier, Carola; Rowe, James B.; Rubino, Elisa; Ruiz, Agustin; Sanchez-Valle, Raquel; Sando, Sigrid B.; Santillo, Alexander F.; Saxon, Jennifer; Scarpini, Elio; Serpente, Maria; Smirne, Nicoletta; Sorbi, Sandro; Suh, EunRan; Tagliavini, Fabrizio; Thompson, Jennifer C.; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Van der Zee, Julie; Van Broeckhoven, Christine; van Rooij, Jeroen; Van Swieten, John C.; Veronesi, Arianna; Vitale, Emilia; Wald, Maria L.; Woodward, Cathy; Yokoyama, Jennifer; Escott-Price, Valentina; Polke, James M.; Ferrari, Raffaele/titolo:C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts/doi:10.1212%2FWNL.0000000000010914/rivista:Neurology/anno:2020/pagina_da:E3288/pagina_a:E3302/intervallo_pagine:E3288–E3302/volume:95
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
article-version (Version of Record) 3
e3288-e3302
Neurology, 95(24), E3288-E3302. Lippincott Williams & Wilkins
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Costa, B, Manzoni, C, Bernal-Quiros, M, Kia, D A, Aguilar, M, Alvarez, I, Alvarez, V, Andreassen, O A, Anfossi, M, Bagnoli, S, Benussi, L, Bernardi, L, Binetti, G, Blackburn, D J, Boada, M, Borroni, B, Bowns, L, Bråthen, G, Bruni, A C, Chiang, H H, Clarimon, J, Colville, S, Conidi, M E, Cope, T E, Cruchaga, C, Cupidi, C, Di Battista, M E, Diehl-Schmid, J, Diez-Fairen, M, Dols-Icardo, O, Durante, E, Flisar, D, Frangipane, F, Galimberti, D, Gallo, M, Gallucci, M, Ghidoni, R, Graff, C, Grafman, J H, Grossman, M, Hardy, J, Hernández, I, Holloway, G J T, Huey, E D, Illán-Gala, I, Karydas, A, Khoshnood, B, Kramberger, M G, Kristiansen, M, Lewis, P A, Lleó, A, Madhan, G K, Maletta, R, Maver, A, Menendez-Gonzalez, M, Milan, G, Miller, B L, Mol, M O, Momeni, P, Moreno-Grau, S, Morris, C M, Nacmias, B, Nilsson, C, Novelli, V, Öijerstedt, L, Padovani, A, Pal, S, Panchbhaya, Y, Pastor, P, Peterlin, B, Piaceri, I, Pickering-Brown, S, Pijnenburg, Y A L, Puca, A A, Rainero, I, Rendina, A, Richardson, A M T, Rogaeva, E, Rogelj, B, Rollinson, S, Rossi, G, Roßmeier, C, Rowe, J B, Rubino, E, Ruiz, A, Sanchez-Valle, R, Sando, S B, Santillo, A F, Saxon, J, Scarpini, E, Serpente, M, Smirne, N, Sorbi, S, Suh, E R, Tagliavini, F, Thompson, J C, Trojanowski, J Q, van Deerlin, V M, van der Zee, J, van Broeckhoven, C, van Rooij, J G J, van Swieten, J C, Veronesi, A, Vitale, E, Waldö, M L, Woodward, C, Yokoyama, J S, Escott-Price, V, Polke, J M & Ferrari, R 2020, ' C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts ', Neurology, vol. 95, no. 24, pp. E3288-E3302 . https://doi.org/10.1212/WNL.0000000000010914
Neurology 95 (2020): E3288–E3302. doi:10.1212/WNL.0000000000010914
info:cnr-pdr/source/autori:Costa, Beatrice; Manzoni, Claudia; Bernal-Quiros, Manuel; Kia, Demis A.; Aguilar, Miquel; Alvarez, Ignacio; Alvarez, Victoria; Andreassen, Ole; Anfossi, Maria; Bagnoli, Silvia; Benussi, Luisa; Bernardi, Livia; Binetti, Giuliano; Blackburn, Daniel; Boada, Merce; Borroni, Barbara; Bowns, Lucy; Brathen, Geir; Bruni, Amalia C.; Chiang, Huei-Hsin; Clarimon, Jordi; Colville, Shuna; Conidi, Maria E.; Cope, Tom E.; Cruchaga, Carlos; Cupidi, Chiara; Di Battista, Maria Elena; Diehl-Schmid, Janine; Diez-Fairen, Monica; Dols-Icardo, Oriol; Durante, Elisabetta; Flisar, Dusan; Frangipane, Francesca; Galimberti, Daniela; Gallo, Maura; Gallucci, Maurizio; Ghidoni, Roberta; Graff, Caroline; Grafman, Jordan H.; Grossman, Murray; Hardy, John; Hernandez, Isabel; Holloway, Guy J. T.; Huey, Edward D.; Illan-Gala, Ignacio; Karydas, Anna; Khoshnood, Behzad; Kramberger, Milica G.; Kristiansen, Mark; Lewis, Patrick A.; Lle, Alberto; Madhan, Gaganjit K.; Maletta, Raffaele; Maver, Ales; Menendez-Gonzalez, Manuel; Milan, Graziella; Miller, Bruce; Mol, Merel O.; Momeni, Parastoo; Moreno-Grau, Sonia; Morris, Chris M.; Nacmias, Benedetta; Nilsson, Christer; Novelli, Valeria; Oijerstedt, Linn; Padovani, Alessandro; Pal, Suvankar; Panchbhaya, Yasmin; Pastor, Pau; Peterlin, Borut; Piaceri, Irene; Pickering-Brown, Stuart; Al Pijnenburg, Yolande; Puca, Annibale A.; Rainero, Innocenzo; Rendina, Antonella; Richardson, Anna Mt; Rogaeva, Ekaterina; Rogelj, Boris; Rollinson, Sara; Rossi, Giacomina; Rossmeier, Carola; Rowe, James B.; Rubino, Elisa; Ruiz, Agustin; Sanchez-Valle, Raquel; Sando, Sigrid B.; Santillo, Alexander F.; Saxon, Jennifer; Scarpini, Elio; Serpente, Maria; Smirne, Nicoletta; Sorbi, Sandro; Suh, EunRan; Tagliavini, Fabrizio; Thompson, Jennifer C.; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Van der Zee, Julie; Van Broeckhoven, Christine; van Rooij, Jeroen; Van Swieten, John C.; Veronesi, Arianna; Vitale, Emilia; Wald, Maria L.; Woodward, Cathy; Yokoyama, Jennifer; Escott-Price, Valentina; Polke, James M.; Ferrari, Raffaele/titolo:C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts/doi:10.1212%2FWNL.0000000000010914/rivista:Neurology/anno:2020/pagina_da:E3288/pagina_a:E3302/intervallo_pagine:E3288–E3302/volume:95
NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
article-version (Version of Record) 3
e3288-e3302
Neurology, 95(24), E3288-E3302. Lippincott Williams & Wilkins
Objective We sought to characterize C9orf72 expansions in relation to genetic ancestry and age at onset (AAO) and to use these measures to discriminate the behavioral from the language variant syndrome in a large pan-European cohort of frontotemporal
Autor:
Davidson, Yvonne S., Robinson, Andrew C., Rollinson, Sara, Pickering-Brown, Stuart, Xiao, Shangxi, Robertson, Janice, Mann, David M. A.
Publikováno v:
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
We have employed as ‘gold standards’ two in-house, well-characterised and validated polyclonal antibodies, C9-L and C9-S, which detect the longer and shorter forms of C9orf72, and have compared seven other commercially available antibodies with t
Autor:
Zhang, Ming, Ferrari, Raffaele, Tartaglia, Maria Carmela, Keith, Julia, Surace, Ezequiel I, Wolf, Uri, Sato, Christine, Grinberg, Mark, Liang, Yan, Xi, Zhengrui, Dupont, Kyle, McGoldrick, Philip, Weichert, Anna, McKeever, Paul M, Schneider, Raphael, McCorkindale, Michael D, Manzoni, Claudia, Rademakers, Rosa, Graff-Radford, Neill R, Dickson, Dennis W, Parisi, Joseph E, Boeve, Bradley F, Petersen, Ronald C, Miller, Bruce L, Seeley, William W, Van Swieten, John C, Van Rooij, Jeroen, Pijnenburg, Yolande, Van Der Zee, Julie, Van Broeckhoven, Christine, Le Ber, Isabelle, Van Deerlin, Vivianna, Suh, EunRan, Rohrer, Jonathan D, Mead, Simon, Graff, Caroline, Öijerstedt, Linn, Pickering-Brown, Stuart, Rollinson, Sara, Rossi, Giacomina, Tagliavini, Fabrizio, Brooks, William S, Dobson-Stone, Carol, Halliday, Glenda M, Hodges, John R, Piguet, Olivier, Binetti, Giuliano, Benussi, Luisa, Ghidoni, Roberta, Nacmias, Benedetta, Sorbi, Sandro, Bruni, Amalia C, Galimberti, Daniela, Scarpini, Elio, Rainero, Innocenzo, Rubino, Elisa, Clarimon, Jordi, Lleó, Alberto, Ruiz, Agustin, Hernández, Isabel, Pastor, Pau, Diez-Fairen, Monica, Borroni, Barbara, Pasquier, Florence, Deramecourt, Vincent, Lebouvier, Thibaud, Perneczky, Robert, Diehl-Schmid, Janine, Grafman, Jordan, Huey, Edward D, Mayeux, Richard, Nalls, Michael A, Hernandez, Dena, Singleton, Andrew, Momeni, Parastoo, Zeng, Zhen, Hardy, John, Robertson, Janice, Zinman, Lorne, Rogaeva, Ekaterina, International FTD-Genomics Consortium (IFGC)
Publikováno v:
Zhang, M; Ferrari, R; Tartaglia, MC; Keith, J; Surace, EI; Wolf, U; et al.(2018). A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers. BRAIN, 141, 2895-2907. doi: 10.1093/brain/awy238. UCSF: Retrieved from: http://www.escholarship.org/uc/item/1qp1x4zx
Brain : a journal of neurology, vol 141, iss 10
Brain : a journal of neurology, vol 141, iss 10
The G4C2-repeat expansion in C9orf72 is the most common known cause of amyotrophic lateral sclerosis and frontotemporal dementia. The high phenotypic heterogeneity of C9orf72 patients includes a wide range in age of onset, modifiers of which are larg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce027fcd003f4b7718380f9802ce5c3
Autor:
Pottier, Cyril, Ren, Yingxue, Perkerson, Ralph B, Baker, Matt, Jenkins, Gregory D, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, van Rooij, Jeroen GJ, Murray, Melissa E, Christopher, Elizabeth, McDonnell, Shannon K, Fogarty, Zachary, Batzler, Anthony, Tian, Shulan, Vicente, Cristina T, Matchett, Billie, Karydas, Anna M, Hsiung, Ging-Yuek Robin, Seelaar, Harro, Mol, Merel O, Finger, Elizabeth C, Graff, Caroline, Öijerstedt, Linn, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Prudlo, Johannes, Rizzu, Patrizia, Simon-Sanchez, Javier, Edbauer, Dieter, Roeber, Sigrun, Diehl-Schmid, Janine, Evers, Bret M, King, Andrew, Mesulam, M Marsel, Weintraub, Sandra, Geula, Changiz, Bieniek, Kevin F, Petrucelli, Leonard, Ahern, Geoffrey L, Reiman, Eric M, Woodruff, Bryan K, Caselli, Richard J, Huey, Edward D, Farlow, Martin R, Grafman, Jordan, Mead, Simon, Grinberg, Lea T, Spina, Salvatore, Grossman, Murray, Irwin, David J, Lee, Edward B, Suh, EunRan, Snowden, Julie, Mann, David, Ertekin-Taner, Nilufer, Uitti, Ryan J, Wszolek, Zbigniew K, Josephs, Keith A, Parisi, Joseph E, Knopman, David S, Petersen, Ronald C, Hodges, John R, Piguet, Olivier, Geier, Ethan G, Yokoyama, Jennifer S, Rissman, Robert A, Rogaeva, Ekaterina, Keith, Julia, Zinman, Lorne, Tartaglia, Maria Carmela, Cairns, Nigel J, Cruchaga, Carlos, Ghetti, Bernardino, Kofler, Julia, Lopez, Oscar L, Beach, Thomas G, Arzberger, Thomas, Herms, Jochen, Honig, Lawrence S, Vonsattel, Jean Paul, Halliday, Glenda M, Kwok, John B, White, Charles L, Gearing, Marla, Glass, Jonathan, Rollinson, Sara, Pickering-Brown, Stuart, Rohrer, Jonathan D, Trojanowski, John Q, Van Deerlin, Vivianna, Bigio, Eileen H, Troakes, Claire, Al-Sarraj, Safa, Asmann, Yan, Miller, Bruce L, Graff-Radford, Neill R, Boeve, Bradley F, Seeley, William W
Publikováno v:
Acta neuropathologica, vol 137, iss 6
Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) represents the most common pathological subtype of FTLD. We established the international FTLD-TDP whole-genome sequencing consortium to thoroughl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::b1eda99c5db0170ed55d902d1382dc3a
https://escholarship.org/uc/item/6nh4g8pw
https://escholarship.org/uc/item/6nh4g8pw
Autor:
Pottier, Cyril, Zhou, Xiaolai, Perkerson, Ralph B, Baker, Matt, Jenkins, Gregory D, Serie, Daniel J, Ghidoni, Roberta, Benussi, Luisa, Binetti, Giuliano, López de Munain, Adolfo, Zulaica, Miren, Moreno, Fermin, Le Ber, Isabelle, Pasquier, Florence, Hannequin, Didier, Sánchez-Valle, Raquel, Antonell, Anna, Lladó, Albert, Parsons, Tammee M, Finch, NiCole A, Finger, Elizabeth C, Lippa, Carol F, Huey, Edward D, Neumann, Manuela, Heutink, Peter, Synofzik, Matthis, Wilke, Carlo, Rissman, Robert A, Slawek, Jaroslaw, Sitek, Emilia, Johannsen, Peter, Nielsen, Jørgen E, Ren, Yingxue, van Blitterswijk, Marka, DeJesus-Hernandez, Mariely, Christopher, Elizabeth, Murray, Melissa E, Bieniek, Kevin F, Evers, Bret M, Ferrari, Camilla, Rollinson, Sara, Richardson, Anna, Scarpini, Elio, Fumagalli, Giorgio G, Padovani, Alessandro, Hardy, John, Momeni, Parastoo, Ferrari, Raffaele, Frangipane, Francesca, Maletta, Raffaele, Anfossi, Maria, Gallo, Maura, Petrucelli, Leonard, Suh, EunRan, Lopez, Oscar L, Wong, Tsz H, van Rooij, Jeroen GJ, Seelaar, Harro, Mead, Simon, Caselli, Richard J, Reiman, Eric M, Noel Sabbagh, Marwan, Kjolby, Mads, Nykjaer, Anders, Karydas, Anna M, Boxer, Adam L, Grinberg, Lea T, Grafman, Jordan, Spina, Salvatore, Oblak, Adrian, Mesulam, M-Marsel, Weintraub, Sandra, Geula, Changiz, Hodges, John R, Piguet, Olivier, Brooks, William S, Irwin, David J, Trojanowski, John Q, Lee, Edward B, Josephs, Keith A, Parisi, Joseph E, Ertekin-Taner, Nilüfer, Knopman, David S, Nacmias, Benedetta, Piaceri, Irene, Bagnoli, Silvia, Sorbi, Sandro, Gearing, Marla, Glass, Jonathan, Beach, Thomas G, Black, Sandra E, Masellis, Mario, Rogaeva, Ekaterina, Vonsattel, Jean-Paul, Honig, Lawrence S, Kofler, Julia, Bruni, Amalia C, Snowden, Julie, Mann, David, Pickering-Brown, Stuart
Publikováno v:
The Lancet. Neurology, vol 17, iss 6
BackgroundLoss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::361b825605e001d4af11ea81836a0149
https://escholarship.org/uc/item/36b9w7pv
https://escholarship.org/uc/item/36b9w7pv
Autor:
Wei, Wei, Keogh, Michael J, Wilson, Ian, Coxhead, Jonathan, Ryan, Sarah, Rollinson, Sara, Griffin, Helen, Kurzawa-Akinibi, Marzena, Santibanez Koref, Mauro, Talbot, Kevin, Turner, Martin J, McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al-Sarraj, Safa, Morris, Christopher M, Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James, Chinnery, Patrick F
Publikováno v:
Wei, W, Keogh, M J, Wilson, I, Coxhead, J, Ryan, S, Rollinson, S, Griffin, H, Kurzawa-akanbi, M, Santibanez-koref, M, Talbot, K, Turner, M R, Mckenzie, C, Troakes, C, Attems, J, Smith, C, Al Sarraj, S, Morris, C M, Ansorge, O, Pickering-brown, S, Ironside, J W & Chinnery, P F 2017, ' Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains ', Acta Neuropathologica Communications, vol. 5, no. 1 . https://doi.org/10.1186/s40478-016-0404-6
Acta Neuropathologica Communications
Wei, W, Keogh, M J, Wilson, I, Coxhead, J, Ryan, S, Rollinson, S, Griffin, H, Kurzawa-Akinibi, M, Santibanez Koref, M, Talbot, K, Turner, M J, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Al-Sarraj, S, Morris, C M, Ansorge, O, Pickering-Brown, S, Ironside, J & Chinnery, P F 2017, ' Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains ', Acta Neuropathologica Communications . https://doi.org/10.1186/s40478-016-0404-6
Acta Neuropathologica Communications
Wei, W, Keogh, M J, Wilson, I, Coxhead, J, Ryan, S, Rollinson, S, Griffin, H, Kurzawa-Akinibi, M, Santibanez Koref, M, Talbot, K, Turner, M J, McKenzie, C-A, Troakes, C, Attems, J, Smith, C, Al-Sarraj, S, Morris, C M, Ansorge, O, Pickering-Brown, S, Ironside, J & Chinnery, P F 2017, ' Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains ', Acta Neuropathologica Communications . https://doi.org/10.1186/s40478-016-0404-6
Mitochondria play a key role in common neurodegenerative diseases and contain their own genome: mtDNA. Common inherited polymorphic variants of mtDNA have been associated with several neurodegenerative diseases, and somatic deletions of mtDNA have be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e499ad9f53b16c71c178421c3ddcc4ad
https://research.manchester.ac.uk/en/publications/656bad90-ef19-4c8e-9952-da102faef1cd
https://research.manchester.ac.uk/en/publications/656bad90-ef19-4c8e-9952-da102faef1cd
Autor:
Baborie, Atik, Griffiths, Timothy D., Jaros, Evelyn, Perry, Robert, McKeith, Ian G., Burn, David J., Masuda‐Suzukake, Masami, Hasegawa, Masato, Rollinson, Sara, Pickering‐Brown, Stuart, Robinson, Andrew C., Davidson, Yvonne S., Mann, David M. A.
Publikováno v:
Neuropathology and Applied Neurobiology
Aims Frontotemporal lobar degeneration (FTLD) and motor neurone disease are linked by the possession of a hexanucleotide repeat expansion in C9ORF72, and both show neuronal cytoplasmic inclusions within cerebellar and hippocampal neurones which are T