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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
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
Published in Brain (London, England : 1878) (01.12.2019)
Published in Brain (London, England : 1878) (01.12.2019)
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Journal Article
Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
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, Al Khleifat, Ahmad, 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.
Published in Nature neuroscience (01.12.2019)
Published in Nature neuroscience (01.12.2019)
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Journal Article
The role of positive selection in determining the molecular cause of species differences in disease
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
Published in BMC evolutionary biology (06.10.2008)
Published in BMC evolutionary biology (06.10.2008)
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Journal Article
Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene
Kent, Louisa, Vizard, Thomas N., Smith, Bradley N., Topp, Simon D., Vance, Caroline, Gkazi, Athina, Miller, Jack, Shaw, Christopher E., Talbot, Kevin
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.12.2014)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.12.2014)
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Journal Article
The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Published in Nature communications (12.11.2022)
Published in Nature communications (12.11.2022)
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Journal Article
CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis
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
Published in Brain (London, England : 1878) (01.03.2020)
Published in Brain (London, England : 1878) (01.03.2020)
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Journal Article
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
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.
Published in Neurobiology of aging (01.11.2018)
Published in Neurobiology of aging (01.11.2018)
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Journal Article
SOD1-ALS-Browser: a web-utility for investigating the clinical phenotype in SOD1 amyotrophic lateral sclerosis
Spargo, Thomas P, Opie-Martin, Sarah, Hunt, Guy P, Kalia, Munishikha, Al Khleifat, Ahmad, Topp, Simon D, Shaw, Christopher E, Al-Chalabi, Ammar, Iacoangeli, Alfredo
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2023)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (02.10.2023)
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Journal Article
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures
Tang, Shan, Addis, Laura, Smith, Anna, Topp, Simon D., Pendziwiat, Manuela, Mei, Davide, Parker, Alasdair, Agrawal, Shakti, Hughes, Elaine, Lascelles, Karine, Williams, Ruth E., Fallon, Penny, Robinson, Robert, Cross, Helen J., Hedderly, Tammy, Eltze, Christin, Kerr, Tim, Desurkar, Archana, Hussain, Nahin, Kinali, Maria, Bagnasco, Irene, Vassallo, Grace, Whitehouse, William, Goyal, Sushma, Absoud, Michael, Møller, Rikke S., Helbig, Ingo, Weber, Yvonne G., Marini, Carla, Guerrini, Renzo, Simpson, Michael A., Pal, Deb K., Craiu, Dana, Davila, Carol, Obregia, Alexandru, De Jonghe, Peter, Lehesjoki, Anna‐Elina, Muhle, Hiltrud, Neubauer, Bernd, Selmer, Kaja, Stephani, Ulrich, Sterbova, Katalin, Striano, Pasquale, Talvik, Tiina, von Spiczak, Sarah, Weckhuysen, Sarah, Caglayan, Hande, Hoffman‐Zacharska, Dorota
Published in Epilepsia (Copenhagen) (01.05.2020)
Published in Epilepsia (Copenhagen) (01.05.2020)
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Journal Article
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
Gotkine, Marc, de Majo, Martina, Wong, Chun Hao, Topp, Simon D., Michaelson-Cohen, Rachel, Epsztejn-Litman, Silvina, Eiges, Rachel, Y, Yossef Lerner, Kanaan, Moein, Shaked, Hagar Mor, Alahmady, Nada, Vance, Caroline, Newhouse, Stephen J., Breen, Gerome, Nishimura, Agnes L., Shaw, Christopher E., Smith, Bradley N.
Published in Neurobiology of aging (01.10.2021)
Published in Neurobiology of aging (01.10.2021)
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Journal Article
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Opie-Martin, Sarah, Iacoangeli, Alfredo, Topp, Simon D., Abel, Olubunmi, Mayl, Keith, Mehta, Puja R., Shatunov, Aleksey, Fogh, Isabella, Bowles, Harry, Limbachiya, Naomi, Spargo, Thomas P., Al-Khleifat, Ahmad, Williams, Kelly L., Jockel-Balsarotti, Jennifer, Bali, Taha, Self, Wade, Henden, Lyndal, Nicholson, Garth A., Ticozzi, Nicola, McKenna-Yasek, Diane, Tang, Lu, Shaw, Pamela J., Chio, Adriano, Ludolph, Albert, Weishaupt, Jochen H., Landers, John E., Glass, Jonathan D., Mora, Jesus S., Robberecht, Wim, Damme, Philip Van, McLaughlin, Russell, Hardiman, Orla, van den Berg, Leonard, Veldink, Jan H., Corcia, Phillippe, Stevic, Zorica, Siddique, Nailah, Silani, Vincenzo, Blair, Ian P., Fan, Dong-sheng, Esselin, Florence, de la Cruz, Elisa, Camu, William, Basak, Nazli A., Siddique, Teepu, Miller, Timothy, Brown, Robert H., Al-Chalabi, Ammar, Shaw, Christopher E.
Published in Nature communications (02.07.2024)
Published in Nature communications (02.07.2024)
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Journal Article
ALSgeneScanner: a pipeline for the analysis and interpretation of DNA sequencing data of ALS patients
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
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.04.2019)
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Journal Article
Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein
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.
Published in Nature neuroscience (01.02.2020)
Published in Nature neuroscience (01.02.2020)
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Journal Article
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients
Johnson, Lauren, Miller, Jack W., Gkazi, Athina Soragia, Vance, Caroline, Topp, Simon D., Newhouse, Stephen J., Al-Chalabi, Ammar, Smith, Bradley N., Shaw, Christopher E.
Published in Neurobiology of aging (01.12.2012)
Published in Neurobiology of aging (01.12.2012)
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Journal Article
SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
Iacoangeli, Alfredo, Fogh, Isabella, Selvackadunco, Sashika, Topp, Simon D, Shatunov, Aleksey, van Rheenen, Wouter, Al-Khleifat, Ahmad, Opie-Martin, Sarah, Ratti, Antonia, Calvo, Andrea, Van Damme, Philip, Robberecht, Wim, Chio, Adriano, Dobson, Richard J, Hardiman, Orla, Shaw, Christopher E, van den Berg, Leonard H, Andersen, Peter M, Smith, Bradley N, Silani, Vincenzo, Veldink, Jan H, Breen, Gerome, Troakes, Claire, Al-Chalabi, Ammar, Jones, Ashley R
Published in Brain communications (01.01.2021)
Published in Brain communications (01.01.2021)
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Journal Article
Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation
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.
Published in Diabetes (New York, N.Y.) (01.05.2012)
Published in Diabetes (New York, N.Y.) (01.05.2012)
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Journal Article
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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, ten Asbroek, Anneloor L M A, 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
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Journal Article
New Methods for Researching Accessory Proteins
Foord, Steven M., Topp, Simon D., Abramo, Marco, Holbrook, Joanna D.
Published in Journal of molecular neuroscience (01.01.2005)
Published in Journal of molecular neuroscience (01.01.2005)
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Journal Article
Mutations in the SPTLC1 gene are a cause of amyotrophic lateral sclerosis that may be amenable to serine supplementation
Johnson, Janel O, Chia, Ruth, Ravindran Kumaran, Alahmady, Nada, Miller, Danny E, Abramzon, Yevgeniya, Faghri, Faraz, Renton, Alan E, Topp, Simon D, Pliner, Hannah A, J Raphael Gibbs, Ding, Jinhui, Smith, Nathan, Landeck, Natalie, Nalls, Michael A, Cookson, Mark R, Pletnikova, Olga, Troncoso, Juan, Scholz, Sonja W, Sabir, Marya S, Ahmed, Sarah, Dalgard, Clifton L, Troakes, Claire, Jones, Ashley R, Shatunov, Aleksey, Iacoangeli, Alfredo, Ahmad Al Khleifat, Ticozzi, Nicola, Silani, Vincenzo, Gellera, Cinzia, Blair, Ian P, Dobson-Stone, Carol, Kwok, John B, England, Bryce K, Bonkowski, Emily S, The International Als Genomics Consortium, The Italsgen Consortium, The Fals Sequencing Consortium, The American Genome Center, Tienari, Pentti J, Stone, David J, Morrison, Karen E, Shaw, Pamela J, Al-Chalabi, Ammar, Brown, Robert H, Brunetti, Maura, Calvo, Andrea, Mora, Gabriele, Gotkine, Marc, Leigh, Fawn, Glass, Ian, Shaw, Christopher E, Landers, John E, Chiò, Adriano, Crawford, Thomas O, Smith, Bradley N, Traynor, Bryan
Published in bioRxiv (19.09.2019)
Published in bioRxiv (19.09.2019)
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