C9orf72 dipeptides disrupt the nucleocytoplasmic transport machinery and cause TDP-43 mislocalisation to the cytoplasm

por Ryan, Sarah, Rollinson, Sara, Hobbs, Eleanor, Pickering-Brown, Stuart
Publicado 2022

Modelling C9orf72 dipeptide repeat proteins of a physiologically relevant size

por Bennion Callister, Janis, Ryan, Sarah, Sim, Joan, Rollinson, Sara, Pickering-Brown, Stuart M.
Publicado 2016

Immunohistochemical detection of C9orf72 protein in frontotemporal lobar degeneration and motor neurone disease: patterns of immunostaining and an evaluation of commercial antibodi...

por Davidson, Yvonne S., Robinson, Andrew C., Rollinson, Sara, Pickering-Brown, Stuart, Xiao, Shangxi, Robertson, Janice, Mann, David M. A.
Publicado 2017

Plasma levels of progranulin and interleukin-6 in frontotemporal lobar degeneration

por Gibbons, Linda, Rollinson, Sara, Thompson, Jennifer C., Robinson, Andrew, Davidson, Yvonne S., Richardson, Anna, Neary, David, Pickering-Brown, Stuart M., Snowden, Julie S., Mann, David M.A.
Publicado 2015

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9OR...

por Mann, David MA, Rollinson, Sara, Robinson, Andrew, Bennion Callister, Janis, Thompson, Jennifer C, Snowden, Julie S, Gendron, Tania, Petrucelli, Leonard, Masuda-Suzukake, Masami, Hasegawa, Masato, Davidson, Yvonne, Pickering-Brown, Stuart
Publicado 2013

Heterogeneous ribonuclear protein E2 (hnRNP E2) is associated with TDP-43-immunoreactive neurites in Semantic Dementia but not with other TDP-43 pathological subtypes of Frontotemp...

por Davidson, Yvonne S., Robinson, Andrew C., Flood, Louis, Rollinson, Sara, Benson, Bridget C., Asi, Yasmine T., Richardson, Anna, Jones, Matthew, Snowden, Julie S., Pickering-Brown, Stuart, Lashley, Tammaryn, Mann, David M. A.
Publicado 2017

Heterogeneous ribonuclear protein A3 (hnRNP A3) is present in dipeptide repeat protein containing inclusions in Frontotemporal Lobar Degeneration and Motor Neurone disease associat...

por Davidson, Yvonne S., Flood, Louis, Robinson, Andrew C., Nihei, Yoshihiro, Mori, Kohji, Rollinson, Sara, Richardson, Anna, Benson, Bridget C., Jones, Matthew, Snowden, Julie S., Pickering-Brown, Stuart, Haass, Christian, Lashley, Tammaryn, Mann, David M. A.
Publicado 2017

Accumulation of dipeptide repeat proteins predates that of TDP‐43 in frontotemporal lobar degeneration associated with hexanucleotide repeat expansions in C9ORF72 gene

por 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.
Publicado 2015

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

por Davidson, Yvonne S, Barker, Holly, Robinson, Andrew C, Thompson, Jennifer C, Harris, Jenny, Troakes, Claire, Smith, Bradley, Al-Saraj, Safa, Shaw, Chris, Rollinson, Sara, Masuda-Suzukake, Masami, Hasegawa, Masato, Pickering-Brown, Stuart, Snowden, Julie S, Mann, David M
Publicado 2014

Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

por Saxon, Jennifer A, Thompson, Jennifer C, Harris, Jennifer M, Richardson, Anna M, Langheinrich, Tobias, Rollinson, Sara, Pickering-Brown, Stuart, Chaouch, Amina, Ealing, John, Hamdalla, Hisham, Young, Carolyn A, Blackburn, Dan, Majeed, Tahir, Gall, Claire, Jones, Matthew, Snowden, Julie S
Publicado 2020

A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD

por Rollinson, Sara, Bennion Callister, Janis, Young, Kate, Ryan, Sarah J., Druyeh, Ronald, Rohrer, Jonathan D., Snowden, Julie, Richardson, Anna, Jones, Matt, Harris, Jenny, Davidson, Yvonne, Robinson, Andrew, Ealing, John, Johnson, Janel O., Traynor, Bryan, Mead, Simon, Mann, David, Pickering-Brown, Stuart M.
Publicado 2015

Pathological tau deposition in Motor Neurone Disease and frontotemporal lobar degeneration associated with TDP-43 proteinopathy

por Behrouzi, Roya, Liu, Xiawei, Wu, Dongyue, Robinson, Andrew C., Tanaguchi-Watanabe, Sayuri, Rollinson, Sara, Shi, Jing, Tian, Jinzhou, Hamdalla, Hisham H. M., Ealing, John, Richardson, Anna, Jones, Matthew, Pickering-Brown, Stuart, Davidson, Yvonne S., Strong, Michael J., Hasegawa, Masato, Snowden, Julie S., Mann, David M. A.
Publicado 2016

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

por Keogh, Michael J., Wei, Wei, Wilson, Ian, Coxhead, Jon, Ryan, Sarah, Rollinson, Sara, Griffin, Helen, Kurzawa-Akanbi, Marzena, Santibanez-Koref, Mauro, Talbot, Kevin, Turner, Martin R., McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al Sarraj, Safa, Morris, Chris M., Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James W., Chinnery, Patrick F.
Publicado 2017

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

por 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 R., McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al Sarraj, Safa, Morris, Christopher M., Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James W., Chinnery, Patrick F
Publicado 2017

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

por Wei, Wei, Keogh, Michael J., Wilson, Ian, Coxhead, Jonathan, Ryan, Sarah, Rollinson, Sara, Griffin, Helen, Kurzawa-Akanbi, Marzena, Santibanez-Koref, Mauro, Talbot, Kevin, Turner, Martin R., McKenzie, Chris-Anne, Troakes, Claire, Attems, Johannes, Smith, Colin, Al Sarraj, Safa, Morris, Christopher M., Ansorge, Olaf, Pickering-Brown, Stuart, Ironside, James W., Chinnery, Patrick F
Publicado 2017

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

por Majounie, Elisa, Renton, Alan E, Mok, Kin, Dopper, Elise GP, Waite, Adrian, Rollinson, Sara, Chiò, Adriano, Restagno, Gabriella, Nicolaou, Nayia, Simon-Sanchez, Javier, van Swieten, John C, Abramzon, Yevgeniya, Johnson, Janel O, Sendtner, Michael, Pamphlett, Roger, Orrell, Richard W, Mead, Simon, Sidle, Katie C, Houlden, Henry, Rohrer, Jonathan D, Morrison, Karen E, Pall, Hardev, Talbot, Kevin, Ansorge, Olaf, Hernandez, Dena G, Arepalli, Sampath, Sabatelli, Mario, Mora, Gabriele, Corbo, Massimo, Giannini, Fabio, Calvo, Andrea, Englund, Elisabet, Borghero, Giuseppe, Floris, Gian Luca, Remes, Anne M, Laaksovirta, Hannu, McCluskey, Leo, Trojanowski, John Q, Van Deerlin, Vivianna M, Schellenberg, Gerard D, Nalls, Michael A, Drory, Vivian E, Lu, Chin-Song, Yeh, Tu-Hsueh, Ishiura, Hiroyuki, Takahashi, Yuji, Tsuji, Shoji, Le Ber, Isabelle, Brice, Alexis, Drepper, Carsten, Williams, Nigel, Kirby, Janine, Shaw, Pamela, Hardy, John, Tienari, Pentti J, Heutink, Peter, Morris, Huw R, Pickering-Brown, Stuart, Traynor, Bryan J
Publicado 2012

A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers

por 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
Publicado 2018

C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts

por 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
Publicado 2020

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

por Johnson, Janel O., Chia, Ruth, Miller, Danny E., Li, Rachel, Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada, Renton, Alan E., Topp, Simon D., Gibbs, J. Raphael, Cookson, Mark R., Sabir, Marya S., Dalgard, Clifton L., Troakes, Claire, Jones, Ashley R., Shatunov, Aleksey, Iacoangeli, Alfredo, Al Khleifat, Ahmad, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P., Dobson-Stone, Carol, Kwok, John B., Bonkowski, Emily S., Palvadeau, Robin, Tienari, Pentti J., Morrison, Karen E., Shaw, Pamela J., Al-Chalabi, Ammar, Brown, Robert H., Calvo, Andrea, Mora, Gabriele, Al-Saif, Hind, Gotkine, Marc, Leigh, Fawn, Chang, Irene J., Perlman, Seth J., Glass, Ian, Scott, Anna I., Shaw, Christopher E., Basak, A. Nazli, Landers, John E., Chiò, Adriano, Crawford, Thomas O., Smith, Bradley N., Traynor, Bryan J., Smith, Bradley N., Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D., Scotter, Emma L., Kenna, Kevin P., Keagle, Pamela, Tiloca, Cinzia, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, King, Andrew, Pensato, Viviana, Castellotti, Barbara, Baas, Frank, ten Asbroek, Anneloor L. M. A., McKenna-Yasek, Diane, McLaughlin, Russell L., Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P., Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, van Rheenen, Wouter, Rademakers, Rosa, van Blitterswijk, Marka, Lauria, Giuseppe, Duga, Stefano, Corti, Stefania, Cereda, Cristina, Corrado, Lucia, Sorarù, Gianni, Williams, Kelly L., Nicholson, Garth A., Blair, Ian P., Leblond-Manry, Claire, Rouleau, Guy A., Hardiman, Orla, Morrison, Karen E., Veldink, Jan H., van den Berg, Leonard H., Al-Chalabi, Ammar, Pall, Hardev, Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Taroni, Franco, García-Redondo, Alberto, Wu, Zheyang, Glass, Jonathan D., Gellera, Cinzia, Ratti, Antonia, Brown, Robert H., Silani, Vincenzo, Shaw, Christopher E., Landers, John E., Dalgard, Clifton L., Adeleye, Adelani, Soltis, Anthony R., Alba, Camille, Viollet, Coralie, Bacikova, Dagmar, Hupalo, Daniel N., Sukumar, Gauthaman, Pollard, Harvey B., Wilkerson, Matthew D., Martinez, Elisa McGrath, Abramzon, Yevgeniya, Ahmed, Sarah, Arepalli, Sampath, Baloh, Robert H., Bowser, Robert, Brady, Christopher B., Brice, Alexis, Broach, James, Campbell, Roy H., Camu, William, Chia, Ruth, Cooper-Knock, John, Ding, Jinhui, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Eicher, John D., England, Bryce K., Faghri, Faraz, Feldman, Eva, Floeter, Mary Kay, Fratta, Pietro, Geiger, Joshua T., Gerhard, Glenn, Gibbs, J. Raphael, Gibson, Summer B., Glass, Jonathan D., Hardy, John, Harms, Matthew B., Heiman-Patterson, Terry D., Hernandez, Dena G., Jansson, Lilja, Kirby, Janine, Kowall, Neil W., Laaksovirta, Hannu, Landeck, Natalie, Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J. L., Maragakis, Nicholas J., Mora, Gabriele, Mouzat, Kevin, Murphy, Natalie A., Myllykangas, Liisa, Nalls, Mike A., Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pickering-Brown, Stuart, Pioro, Erik P., Pletnikova, Olga, Pliner, Hannah A., Pulst, Stefan M., Ravits, John M., Renton, Alan E., Rivera, Alberto, Robberecht, Wim, Rogaeva, Ekaterina, Rollinson, Sara, Rothstein, Jeffrey D., Scholz, Sonja W., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Singleton, Andrew B., Smith, Nathan, Stone, David J., Tienari, Pentti J., Troncoso, Juan C., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Landers, John E., Chiò, Adriano, Traynor, Bryan J., Angelocola, Stefania M., Ausiello, Francesco P., Barberis, Marco, Bartolomei, Ilaria, Battistini, Stefania, Bersano, Enrica, Bisogni, Giulia, Borghero, Giuseppe, Brunetti, Maura, Cabona, Corrado, Calvo, Andrea, Canale, Fabrizio, Canosa, Antonio, Cantisani, Teresa A., Capasso, Margherita, Caponnetto, Claudia, Cardinali, Patrizio, Carrera, Paola, Casale, Federico, Chiò, Adriano, Colletti, Tiziana, Conforti, Francesca L., Conte, Amelia, Conti, Elisa, Corbo, Massimo, Cuccu, Stefania, Dalla Bella, Eleonora, D’Errico, Eustachio, DeMarco, Giovanni, Dubbioso, Raffaele, Ferrarese, Carlo, Ferraro, Pilar M., Filippi, Massimo, Fini, Nicola, Floris, Gianluca, Fuda, Giuseppe, Gallone, Salvatore, Gianferrari, Giulia, Giannini, Fabio, Grassano, Maurizio, Greco, Lucia, Iazzolino, Barbara, Introna, Alessandro, La Bella, Vincenzo, Lattante, Serena, Lauria, Giuseppe, Liguori, Rocco, Logroscino, Giancarlo, Logullo, Francesco O., Lunetta, Christian, Mandich, Paola, Mandrioli, Jessica, Manera, Umberto, Manganelli, Fiore, Marangi, Giuseppe, Marinou, Kalliopi, Marrosu, Maria Giovanna, Martinelli, Ilaria, Messina, Sonia, Moglia, Cristina, Mora, Gabriele, Mosca, Lorena, Murru, Maria R., Origone, Paola, Passaniti, Carla, Petrelli, Cristina, Petrucci, Antonio, Pozzi, Susanna, Pugliatti, Maura, Quattrini, Angelo, Ricci, Claudia, Riolo, Giulia, Riva, Nilo, Russo, Massimo, Sabatelli, Mario, Salamone, Paolina, Salivetto, Marco, Salvi, Fabrizio, Santarelli, Marialuisa, Sbaiz, Luca, Sideri, Riccardo, Simone, Isabella, Simonini, Cecilia, Spataro, Rossella, Tanel, Raffaella, Tedeschi, Gioacchino, Ticca, Anna, Torriello, Antonella, Tranquilli, Stefania, Tremolizzo, Lucio, Trojsi, Francesca, Vasta, Rosario, Vacchiano, Veria, Vita, Giuseppe, Volanti, Paolo, Zollino, Marcella, Zucchi, Elisabetta
Publicado 2021