Rezultati - Simon Topp

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  1. 1
    RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy

    RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy od Han-Jou Chen, Simon Topp, Ho Sang Hui, Elsa Zacco, Malvika Katarya, C. McLoughlin, Andrew King, Bradley Smith, Claire Troakes, Annalisa Pastore, Christopher E. Shaw

    Izdano 2019
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  2. 2
    Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD

    Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD od Michael Niblock, Bradley Smith, Youn‐Bok Lee, Valentina Sardone, Simon Topp, Claire Troakes, Safa Al‐Sarraj, Claire S. Leblond, Patrick A. Dion, Guy A. Rouleau, Christopher E. Shaw, Jean‐Marc Gallo

    Izdano 2016
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  3. 3
    The role of positive selection in determining the molecular cause of species differences in disease

    The role of positive selection in determining the molecular cause of species differences in disease od Jessica Vamathevan, Samiul Hasan, Richard D. Emes, Heather Amrine‐Madsen, Dilip Rajagopalan, Simon Topp, Vinod Kumar, Michael Word, Mark D Simmons, Steven M. Foord, Philippe Sanséau, Ziheng Yang, Joanna D. Holbrook

    Izdano 2008
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  4. 4
    Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

    Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias od Puja R. Mehta, Ashley Jones, Sarah Opie-Martin, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Bradley Smith, Simon Topp, Karen Morrison, Pamela J. Shaw, Christopher E. Shaw, Sarah Morgan, Alan Pittman, Ammar Al‐Chalabi

    Izdano 2018
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  5. 5
    Novel mutations support a role for Profilin 1 in the pathogenesis of ALS

    Novel mutations support a role for Profilin 1 in the pathogenesis of ALS od Bradley Smith, Caroline Vance, Emma L. Scotter, Claire Troakes, Chun Hao Wong, Simon Topp, Satomi Maekawa, Andrew King, Jacqueline C. Mitchell, Karan Lund, Ammar Al‐Chalabi, Nicola Ticozzi, Vincenzo Silani, Peter C. Sapp, Robert H. Brown, John E. Landers, Safa Al‐Sarraj, Christopher E. Shaw

    Izdano 2014
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  6. 6
    Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development

    Non-nuclear Pool of Splicing Factor SFPQ Regulates Axonal Transcripts Required for Normal Motor Development od Swapna Thomas-Jinu, Patricia M. Gordon, Triona Fielding, Richard Taylor, Bradley Smith, Victoria Snowden, Eric Blanc, Caroline Vance, Simon Topp, Chun Hao Wong, Holger Bielen, Kelly L. Williams, Emily P. McCann, Garth A. Nicholson, Alejandro Pan-Vazquez, Archa H. Fox, Charles S. Bond, William S. Talbot, Ian P. Blair, Christopher E. Shaw, Corinne Houart

    Izdano 2017
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  7. 7
    Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

    Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures od Shan Tang, Laura Addis, Anna Smith, Simon Topp, Manuela Pendziwiat, Davide Mei, Alasdair Parker, Shakti Agrawal, Elaine Hughes, Karine Lascelles, Ruth Williams, Penny Fallon, Robert Robinson, J. Helen Cross, Tammy Hedderly, Christin Eltze, Tim Kerr, Archana Desurkar, Nahin Hussain, Maria Kinali, Irene Bagnasco, Grace Vassallo, William Whitehouse, Sushma Goyal, Michael Absoud, Rikke S. Møller, Ingo Helbig, Yvonne G. Weber, Carla Marini, Renzo Guerrini, Michael A. Simpson, Deb K. Pal

    Izdano 2020
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  8. 8
    An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

    An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People od Matthew R. Nelson, Daniel Wegmann, Margaret G. Ehm, Darren Kessner, Pamela St. Jean, Claudio Verzilli, Judong Shen, Zheng-Zheng Tang, Silviu‐Alin Bacanu, Dana J. Fraser, Liling Warren, Jennifer L. Aponte, Matthew Zawistowski, Xiao Liu, Hao Zhang, Yong Zhang, Jun Li, Yun Li, Li Li, Peter Woollard, Simon Topp, Matthew D. Hall, Keith Nangle, Jun Wang, Gonçalo R. Abecasis, Lon R. Cardon, Sebastian Zöllner, John C. Whittaker, Stephanie L. Chissoe, John Novembre, Vincent Mooser

    Izdano 2012
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  9. 9
    ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

    ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function od Martina de Majo, Simon Topp, Bradley Smith, Agnes L. Nishimura, Han-Jou Chen, Soragia Athina Gkazi, Jack W. Miller, Chun Hao Wong, Caroline Vance, Frank Baas, Anneloor L.M.A. ten Asbroek, Kevin P. Kenna, Nicola Ticozzi, Alberto García‐Redondo, Jesús Esteban‐Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Karen Morrison, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Hardiman, Jonathan D. Glass, Jacqueline de Belleroche, Cinzia Gellera, Antonia Ratti, Ammar Al‐Chalabi, Robert H. Brown, Vincenzo Silani, John E. Landers, Christopher E. Shaw

    Izdano 2018
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  10. 10
    Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

    Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS od Hong Joo Kim, Nam Chul Kim, Yong‐Dong Wang, Emily A. Scarborough, Jennifer C. Moore, Zamia Diaz, Kyle S. MacLea, Brian D. Freibaum, Songqing Li, Amandine Molliex, Anderson Kanagaraj, Robert Carter, Khrista Boylan, Aleksandra Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley Smith, Simon Topp, Athina-Soragia Gkazi, Jack W. Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Leslie A. Lange, Alice F. Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, J. Paul Taylor

    Izdano 2013
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  11. 11
    Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein

    Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein od Sali M.K. Farhan, Daniel P. Howrigan, Liam Abbott, Joseph R. Klim, Simon Topp, Andrea Byrnes, Claire Churchhouse, Hemali Phatnani, Bradley Smith, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Daniel A. Mordes, Sulagna Ghosh, Kevin Eggan, Rosa Rademakers, Jacob L. McCauley, Rebecca Schüle, Stephan Züchner, Michael Benatar, J. Paul Taylor, Michael A. Nalls, Marc Gotkine, Pamela J. Shaw, Karen Morrison, Ammar Al‐Chalabi, Bryan J. Traynor, Christopher E. Shaw, David B. Goldstein, Matthew B. Harms, Mark J. Daly, Benjamin M. Neale

    Izdano 2019
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  12. 12
    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

    CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis od Carol Dobson‐Stone, Marianne Hallupp, Hamideh Shahheydari, Audrey Ragagnin, Zac Chatterton, Francine Carew‐Jones, Claire E. Shepherd, Holly Stefen, Esmeralda Parić, Thomas Fath, Elizabeth M. Thompson, Peter Blumbergs, Cathy L. Short, Colin D. Field, Peter K. Panegyres, Jane Hecker, Garth A. Nicholson, Alex D. Shaw, Janice M. Fullerton, Agnes A. Luty, Peter R. Schofield, William S. Brooks, Neil Rajan, Mark F. Bennett, Melanie Bahlo, N.A. Shankaracharya, John E. Landers, Olivier Piguet, John R. Hodges, Glenda M. Halliday, Simon Topp, Bradley Smith, Christopher E. Shaw, Emily P. McCann, Jennifer A. Fifita, Kelly L. Williams, Julie D. Atkin, Ian P. Blair, John B. Kwok

    Izdano 2020
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  13. 13
    The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder

    The C9ORF72 expansion mutation is a common cause of ALS+/−FTD in Europe and has a single founder od Bradley Smith, Stephen Newhouse, Aleksey Shatunov, Caroline Vance, Simon Topp, Lauren Johnson, Jack W. Miller, Youn‐Bok Lee, Claire Troakes, Kirsten M. Scott, Ashley Jones, Ian C. Gray, Jamie Wright, Tibor Hortobágyi, Safa Al‐Sarraj, Boris Rogelj, John Powell, Michelle K. Lupton, Simon Lovestone, Peter C. Sapp, Markus Weber, Peter J. Nestor, Helenius J. Schelhaas, Anneloor ALM ten Asbroek, Vincenzo Silani, Cinzia Gellera, Franco Taroni, Nicola Ticozzi, Leonard van den Berg, Jan H. Veldink, Philip Van Damme, Wim Robberecht, Pamela J. Shaw, Janine Kirby, Hardev Pall, Karen Morrison, Alex Morris, Jacqueline de Belleroche, J.M.B.V. de Jong, Frank Baas, Peter M. Andersen, John E. Landers, Robert H. Brown, Michael E. Weale, Ammar Al‐Chalabi, Christopher E. Shaw

    Izdano 2012
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  14. 14
    Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis

    Association of a Locus in the<i>CAMTA1</i>Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis od Isabella Fogh, Kuang Lin, Cinzia Tiloca, James Rooney, Cinzia Gellera, Frank P. Diekstra, Antonia Ratti, Aleksey Shatunov, Michael A. van Es, Petroula Proitsi, Ashley Jones, William Sproviero, Adriano Chió, Russell L. McLaughlin, Gianni Sorarù, Lucia Corrado, Daniel Ståhl, Roberto Del Bo, Cristina Cereda, Barbara Castellotti, Jonathan D. Glass, Steven Newhouse, Richard Dobson, Bradley Smith, Simon Topp, Wouter van Rheenen, Vincent Meininger, Judith Melki, Karen Morrison, Pamela J. Shaw, P. Nigel Leigh, Peter M. Andersen, Giacomo P. Comi, Nicola Ticozzi, Letizia Mazzini, Sandra D’Alfonso, Bryan J. Traynor, Philip Van Damme, Wim Robberecht, Robert H. Brown, John E. Landers, Orla Hardiman, Cathryn M. Lewis, Leonard H. van den Berg, Christopher E. Shaw, Jan H. Veldink, Vincenzo Silani, Ammar Al‐Chalabi, John Powell

    Izdano 2016
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  15. 15
    The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration

    The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration od Sarah Opie-Martin, Alfredo Iacoangeli, Simon Topp, Olubunmi Abel, Keith Mayl, Puja R. Mehta, Aleksey Shatunov, Isabella Fogh, Harry Bowles, Naomi Limbachiya, Thomas P Spargo, Ahmad Al Khleifat, Kelly L. Williams, Jennifer Jockel‐Balsarotti, Taha Bali, Wade Self, Lyndal Henden, Garth A. Nicholson, Nicola Ticozzi, Diane McKenna‐Yasek, Lu Tang, Pamela J. Shaw, Adriano Chiò, Albert Ludolph, Jochen H. Weishaupt, John E. Landers, Jonathan D. Glass, Jesús S. Mora, Wim Robberecht, Philip Van Damme, Russell L. McLaughlin, Orla Hardiman, Leonard van den Berg, Jan H. Veldink, Phillippe Corcia, Zorica Stević, Nailah Siddique, Vincenzo Silani, Ian P. Blair, Dongsheng Fan, Florence Esselin, Elisa De La Cruz, William Camu, Nazlı Başak, Teepu Siddique, Jonathan Mill, Robert H. Brown, Ammar Al‐Chalabi, Christopher E. Shaw

    Izdano 2022
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  16. 16
    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis

    Association of Variants in the <i>SPTLC1</i> Gene With Juvenile Amyotrophic Lateral Sclerosis od Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley Jones, Aleksey Shatunov, Alfredo Iacoangeli, Ahmad Al Khleifat, Nicola Ticozzi, Vincenzo Silani, Cinzia Gellera, Ian P. Blair, Carol Dobson‐Stone, John B. Kwok, Emily Bonkowski, Robin Palvadeau, Pentti J. Tienari, Karen Morrison, Pamela J. Shaw, Ammar Al‐Chalabi, Robert H. Brown, Andrea Calvo, Gabriele Mora, Hind Al-Saif, Marc Gotkine, Fawn Leigh, Irene J. Chang, Seth J. Perlman, Ian Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chió, Thomas O. Crawford, Bradley Smith, Bryan J. Traynor, Bradley Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Emma L. Scotter, Kevin P. Kenna, Pamela Keagle, Cinzia Tiloca, Caroline Vance, Claire Troakes, Claudia Colombrita, Andrew King, Viviana Pensato, Barbara Castellotti, Frank Baas, Anneloor L.M.A. ten Asbroek, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Pamela J. Shaw, Jesús Esteban‐Pérez, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Rosa Rademakers, Marka van Blitterswijk, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Claire Leblond-Manry, Guy A. Rouleau, Orla Hardiman, Karen Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner

    Izdano 2021
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  17. 17
    Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis

    Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis od Ahmad Al Khleifat, Alfredo Iacoangeli, Joke J.F.A. van Vugt, Harry Bowles, Matthieu Moisse, Ramona A. J. Zwamborn, Rick A. A. van der Spek, Aleksey Shatunov, Johnathan Cooper‐Knock, Simon Topp, Ross P. Byrne, Cinzia Gellera, Victoria López-Alonso, Ashley Jones, Sarah Opie-Martin, Atay Vural, Yolanda Campos, Wouter van Rheenen, Brendan Kenna, Kristel R. van Eijk, Kevin P. Kenna, Markus Weber, Bradley Smith, Isabella Fogh, Vincenzo Silani, Karen Morrison, Richard Dobson, Michael A. van Es, Russell L. McLaughlin, Patrick Vourc’h, Adriano Chió, Philippe Corcia, Mamede de Carvalho, Marc Gotkine, Mónica Povedano Panadés, Jesús S. Mora, Pamela J. Shaw, John E. Landers, Jonathan D. Glass, Christopher E. Shaw, Nazlı Başak, Orla Hardiman, Wim Robberecht, Philip Van Damme, Leonard H. van den Berg, Jan H. Veldink, Ammar Al‐Chalabi

    Izdano 2022
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  18. 18
    Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

    Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis od Bradley Smith, Simon Topp, Claudia Fallini, Hideki Shibata, Han-Jou Chen, Claire Troakes, Andrew King, Nicola Ticozzi, Kevin P. Kenna, Athina Soragia-Gkazi, Jack W. Miller, Akane Sato, Diana Marques Dias, Maryangel Jeon, Caroline Vance, Chun Hao Wong, Martina de Majo, Wejdan Kattuah, Jacqueline C. Mitchell, Emma L. Scotter, Nicholas Parkin, Peter C. Sapp, Matthew Nolan, Peter J. Nestor, Michael A. Simpson, Michael E. Weale, Monkel Lek, Frank Baas, J. M. Vianney de Jong, Anneloor L.M.A. ten Asbroek, Alberto García‐Redondo, Jesús Esteban‐Pérez, Cinzia Tiloca, Federico Verde, Stefano Duga, Nigel Leigh, Hardev Pall, Karen Morrison, Ammar Al‐Chalabi, Pamela J. Shaw, Janine Kirby, Martin R. Turner, Kevin Talbot, Orla Hardiman, Jonathan D. Glass, Jacqueline de Belleroche, Masatoshi Maki, Stephen E. Moss, Christopher C.J. Miller, Cinzia Gellera, Antonia Ratti, Safa Al‐Sarraj, Robert H. Brown, Vincenzo Silani, John E. Landers, Christopher E. Shaw

    Izdano 2017
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  19. 19
    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

    Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1 od Kreshnik Ahmeti, Senda Ajroud‐Driss, Ammar Al‐Chalabi, Peter M. Andersen, Jennifer A. Armstrong, A. Birve, Hylke M. Blauw, Robert H. Brown, Lucie Bruijn, Wenjie Chen, Adriano Chió, Mary C. Comeau, Simon Cronin, Frank P. Diekstra, Athina Soraya Gkazi, Jonathan D. Glass, Josh D Grab, Ewout J. N. Groen, Jonathan L. Haines, Orla Hardiman, Scott Heller, Jie Huang, Wu-Yen Hung, James Jaworski, Ashley Jones, Humaira Majeed Khan, John E. Landers, Carl D. Langefeld, P. Nigel Leigh, Miranda C. Marion, Russell L. McLaughlin, Vincent Meininger, Judith Melki, Jack W. Miller, Gabriele Mora, Margaret A. Pericak‐Vance, Evadnie Rampersaud, Wim Robberecht, Laurie Russell, François Salachas, Christiaan G. J. Saris, Aleksey Shatunov, Christopher E. Shaw, Nailah Siddique, Teepu Siddique, Bradley Smith, Robert Sufit, Simon Topp, Bryan J. Traynor, Caroline Vance, Philip Van Damme, Leonard H. van den Berg, Michael A van Es, Paul W van Vught, Jan H. Veldink, Yi Yang, Jingang Zheng

    Izdano 2012
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  20. 20
    CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

    CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia od Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie E. Farrawell, Caroline Vance, Xun Hu, Alessandra Chesi, Claire S. Leblond, Albert Lee, Stephanie L. Rayner, Vinod Sundaramoorthy, Carol Dobson‐Stone, Mark P. Molloy, Marka van Blitterswijk, Dennis W. Dickson, Ronald C. Petersen, Neill R. Graff‐Radford, Bradley F. Boeve, Melissa E. Murray, Cyril Pottier, Emily K. Don, Claire Winnick, Emily P. McCann, Alison Hogan, Hussein Daoud, Annie Levert, Patrick A. Dion, Jun Mitsui, Hiroyuki Ishiura, Yuji Takahashi, Jun Goto, Jason Kost, Cinzia Gellera, Soragia Athina Gkazi, Jack W. Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luís Muñoz-Blanco, Jesús Esteban‐Pérez, Alberto Rábano, Orla Hardiman, Karen Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. Kwok, Gilles J. Guillemin, Roger S. Chung, Shoji Tsuji, Robert H. Brown, Alberto García‐Redondo, Rosa Rademakers, John E. Landers, Aaron D. Gitler, Guy A. Rouleau, Nicholas J. Cole, Justin J. Yerbury, Julie D. Atkin, Christopher E. Shaw, Garth A. Nicholson, Ian P. Blair

    Izdano 2016
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