RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

بواسطة Chen, Han-Jou, Topp, Simon D, Hui, Ho Sang, Zacco, Elsa, Katarya, Malvika, McLoughlin, Conor, King, Andrew, Smith, Bradley N, Troakes, Claire, Pastore, Annalisa, Shaw, Christopher E
الحاوية / القاعدة Brain (2019)

The role of positive selection in determining the molecular cause of species differences in disease

بواسطة Vamathevan, Jessica J, Hasan, Samiul, Emes, Richard D, Amrine-Madsen, Heather, Rajagopalan, Dilip, Topp, Simon D, Kumar, Vinod, Word, Michael, Simmons, Mark D, Foord, Steven M, Sanseau, Philippe, Yang, Ziheng, Holbrook, Joanna D
منشور في 2008

ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients

بواسطة Iacoangeli, Alfredo, Al Khleifat, Ahmad, Sproviero, William, Shatunov, Aleksey, Jones, Ashley R., Opie-Martin, Sarah, Naselli, Ersilia, Topp, Simon D., Fogh, Isabella, Hodges, Angela, Dobson, Richard J., Newhouse, Stephen J., Al-Chalabi, Ammar
الحاوية / القاعدة Amyotroph Lateral Scler Frontotemporal Degener (2019)

Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation

بواسطة Warren, Liling L., Li, Li, Nelson, Matthew R., Ehm, Margaret G., Shen, Judong, Fraser, Dana J., Aponte, Jennifer L., Nangle, Keith L., Slater, Andrew J., Woollard, Peter M., Hall, Matt D., Topp, Simon D., Yuan, Xin, Cardon, Lon R., Chissoe, Stephanie L., Mooser, Vincent, Morris, Andrew D., Palmer, Colin N.A., Perry, John R., Frayling, Timothy M., Whittaker, John C., Waterworth, Dawn M.
منشور في 2012

Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7 encoding a heat-shock protein

بواسطة Farhan, Sali M.K., Howrigan, Daniel P., Abbott, Liam E., Klim, Joseph R., Topp, Simon D., Byrnes, Andrea E., Churchhouse, Claire, Phatnani, Hemali, Smith, Bradley N., Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Shatunov, Aleksey, Iacoangeli, Alfredo, Khleifat, Ahmad Al, Mordes, Daniel A., Ghosh, Sulagna, Eggan, Kevin, Rademakers, Rosa, McCauley, Jacob L., Schüle, Rebecca, Züchner, Stephan, Benatar, Michael, Taylor, J. Paul, Nalls, Michael, Gotkine, Marc, Shaw, Pamela J., Morrison, Karen E., Al-Chalabi, Ammar, Traynor, Bryan, Shaw, Christopher E., Goldstein, David B., Harms, Matthew B., Daly, Mark J., Neale, Benjamin M.
الحاوية / القاعدة Nat Neurosci (2019)

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

بواسطة de Majo, Martina, Topp, Simon D., Smith, Bradley N., Nishimura, Agnes L., Chen, Han-Jou, Gkazi, Athina Soragia, Miller, Jack, Wong, Chun Hao, Vance, Caroline, Baas, Frank, ten Asbroek, Anneloor L.M.A., Kenna, Kevin P., Ticozzi, Nicola, Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Morrison, Karen E., Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Gellera, Cinzia, Ratti, Antonia, Al-Chalabi, Ammar, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
الحاوية / القاعدة Neurobiol Aging (2018)

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

بواسطة Dobson-Stone, Carol, Hallupp, Marianne, Shahheydari, Hamideh, Ragagnin, Audrey M G, Chatterton, Zac, Carew-Jones, Francine, Shepherd, Claire E, Stefen, Holly, Paric, Esmeralda, Fath, Thomas, Thompson, Elizabeth M, Blumbergs, Peter, Short, Cathy L, Field, Colin D, Panegyres, Peter K, Hecker, Jane, Nicholson, Garth, Shaw, Alex D, Fullerton, Janice M, Luty, Agnes A, Schofield, Peter R, Brooks, William S, Rajan, Neil, Bennett, Mark F, Bahlo, Melanie, Shankaracharya, Landers, John E, Piguet, Olivier, Hodges, John R, Halliday, Glenda M, Topp, Simon D, Smith, Bradley N, Shaw, Christopher E, McCann, Emily, Fifita, Jennifer A, Williams, Kelly L, Atkin, Julie D, Blair, Ian P, Kwok, John B
الحاوية / القاعدة Brain (2020)

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

بواسطة Smith, Bradley N., Topp, Simon D., Fallini, Claudia, Shibata, Hideki, Chen, Han-Jou, Troakes, Claire, King, Andrew, Ticozzi, Nicola, Kenna, Kevin P., Soragia-Gkazi, Athina, Miller, Jack W., Sato, Akane, Dias, Diana Marques, Jeon, Maryangel, Vance, Caroline, Wong, Chun Hao, de Majo, Martina, Kattuah, Wejdan, Mitchell, Jacqueline C., Scotter, Emma L., Parkin, Nicholas W., Sapp, Peter C., Nolan, Matthew, Nestor, Peter J., Simpson, Michael, Weale, Michael, Lek, Monkel, Baas, Frank, de Jong, J. M. Vianney, ten Asbroek, Anneloor L. M. A., Redondo, Alberto Garcia, Esteban-Pérez, Jesús, Tiloca, Cinzia, Verde, Federico, Duga, Stefano, Leigh, Nigel, Pall, Hardev, Morrison, Karen E., Al-Chalabi, Ammar, Shaw, Pamela J., Kirby, Janine, Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Glass, Jonathan D., de Belleroche, Jacqueline, Maki, Masatoshi, Moss, Stephen E., Miller, Christopher, Gellera, Cinzia, Ratti, Antonia, Al-Sarraj, Safa, Brown, Robert H., Silani, Vincenzo, Landers, John E., Shaw, Christopher E.
الحاوية / القاعدة Sci Transl Med (2017)

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

بواسطة Kenna, Kevin P, van Doormaal, Perry T C, Dekker, Annelot M, Ticozzi, Nicola, Kenna, Brendan J, Diekstra, Frank P, van Rheenen, Wouter, van Eijk, Kristel R, Jones, Ashley R, Keagle, Pamela, Shatunov, Aleksey, Sproviero, William, Smith, Bradley N, van Es, Michael A, Topp, Simon D, Kenna, Aoife, Miller, Jack W, Fallini, Claudia, Tiloca, Cinzia, McLaughlin, Russell L, Vance, Caroline, Troakes, Claire, Colombrita, Claudia, Mora, Gabriele, Calvo, Andrea, Verde, Federico, Al-Sarraj, Safa, King, Andrew, Calini, Daniela, de Belleroche, Jacqueline, Baas, Frank, van der Kooi, Anneke J, de Visser, Marianne, Asbroek, Anneloor L M A ten, Sapp, Peter C, McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Muñoz-Blanco, José Luis, Strom, Tim M, Meitinger, Thomas, Morrison, Karen E, Lauria, Giuseppe, Williams, Kelly L, Leigh, P Nigel, Nicholson, Garth A, Blair, Ian P, Leblond, Claire S, Dion, Patrick A, Rouleau, Guy A, Pall, Hardev, Shaw, Pamela J, Turner, Martin R, Talbot, Kevin, Taroni, Franco, Boylan, Kevin B, Van Blitterswijk, Marka, Rademakers, Rosa, Esteban-Pérez, Jesús, García-Redondo, Alberto, Van Damme, Phillip, Robberecht, Wim, Chio, Adriano, Gellera, Cinzia, Drepper, Carsten, Sendtner, Michael, Ratti, Antonia, Glass, Jonathan D, Mora, Jesús S, Basak, Nazli A, Hardiman, Orla, Ludolph, Albert C, Andersen, Peter M, Weishaupt, Jochen H, Brown, Robert H, Al-Chalabi, Ammar, Silani, Vincenzo, Shaw, Christopher E, van den Berg, Leonard H, Veldink, Jan H, Landers, John E
الحاوية / القاعدة Nat Genet (2016)

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

بواسطة Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., van Rheenen, Wouter, Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Marangi, Giuseppe, Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L., Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L., Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O., D’Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, de Araujo Martins Moreno, Cristiane, Kamalakaran, Sitharthan, Goldstein, David B., Gitler, Aaron D., Harris, Tim, Myers, Richard M., Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K., LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N., Thompson, Leslie M., Van Eyk, Jennifer E., Berry, James D., Miller, Timothy M., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Malaspina, Andrea, Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Sapp, Peter C., McKenna-Yasek, Diane, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, Baas, Frank, ten Asbroek, Anneloor LMA, Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, Pulst, Stefan M., Ravits, John M., MacGowan, Daniel J. L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Mouzat, Kevin, Lumbroso, Serge, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Baloh, Robert H., Strom, Tim M., Meitinger, Thomas, Shatunov, Aleksey, Van Eijk, Kristel R., de Carvalho, Mamede, Kooyman, Maarten, Middelkoop, Bas, Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Weber, Markus, Boylan, Kevin B., Van Blitterswijk, Marka, Rademakers, Rosa, Morrison, Karen E., Basak, A. Nazli, Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Hardiman, Orla, Williams, Kelly L., Fifita, Jennifer A., Nicholson, Garth A., Blair, Ian P., Rouleau, Guy A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Al-Chalabi, Ammar, Rogaeva, Ekaterina, Zinman, Lorne, Ostrow, Lyle W., Maragakis, Nicholas J., Rothstein, Jeffrey D., Simmons, Zachary, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Taroni, Franco, Ratti, Antonia, Gellera, Cinzia, Van Damme, Philip, Robberecht, Wim, Fratta, Pietro, Sabatelli, Mario, Lunetta, Christian, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Camu, William, Trojanowski, John Q., Van Deerlin, Vivianna M, Brown, Robert H., van den Berg, Leonard H., Veldink, Jan H., Harms, Matthew B., Glass, Jonathan D., Stone, David J., Tienari, Pentti, Silani, Vincenzo, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., Landers, John E.
الحاوية / القاعدة Neuron (2018)