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Bradley Smith

king's college london

54H-index
146Paper Count
1.7WCitation Count
Published Papers 59
Publication Date
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis
err2026-03-31
err0
errOAAI
errPaul J. Hop; Maarten Kooyman; Brendan J. Kenna; Ramona A. J. Zwamborn; Kristel R. van Eijk; Yan Wang; Charlotte H. van Dijk; Erwin Bekema; Wouter van Rheenen; Paul Beele; Joke J. F. A. van Vugt; Ahmad Al Khleifat; Alfredo Iacoangeli; Johnathan Cooper-Knock; Bradley N. Smith; Simon Topp; Anneke J. van der Kooi; Vera Fominykh; Vivian Drory; Yossef Lerner; Yehuda Shovman; Dominic B. Rowe; Kelly L. Williams; Russell L. McLaughlin; Jessica Hurt; Yunfeng Huang; Chia-Yen Chen; Ellen Tsai; Heiko Runz; Eleonora Aronica; Ewout J. N. Groen; Michael A. van Es; R. Jeroen Pasterkamp; Sali M. K. Farhan; Fleur C. Garton; Allan F. McRae; Pamela A. McCombe; Robert D. Henderson; Dongsheng Fan; Lenka Šlachtová; Helle Høyer; Agnes L. Nishimura; Ruben J. Cauchi; Lev Brylev; Boris Rogelj; Blaž Koritnik; Janez Zidar; Teresa Salas; Jesus S. Mora Pardina; Marc Gotkine; Monica Povedano; Philippe Corcia; Patrick Vourc’h; Philippe Couratier; Markus Weber; Matthew C. Kiernan; Roger Pamphlett; Ian P. Blair; Mamede de Carvalho; Nazli A. Başak; Caroline Ingre; Peter M. Andersen; Lorne Zinman; Ekaterina Rogaeva; Ian R. MacKenzie; Nicolas Dupre; Guy A. Rouleau; Bryan J. Traynor; Nicola Ticozzi; Adriano Chiò; Vincenzo Silani; Orla Hardiman; Hemali Phatnani; Matthew B. Harms; Clifton L. Dalgard; Jonathan D. Glass; John E. Landers; Philip Van Damme; Karen E. Morrison; Pamela J. Shaw; Chris E. Shaw; Ammar Al-Chalabi; Leonard H. van den Berg; Kevin P. Kenna; Jan H. Veldink
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A whole food, plant-based diet reduces amino acid levels in patients with metastatic breast cancer
err2024-12-19
err0
errOAAI
errScales, TashJae Q.; Smith, Bradley; Blanchard, Lisa M.; Wixom, Nellie; Tuttle, Emily T.; Altman, Brian J.; Peppone, Luke J.; Munger, Joshua; Campbell, Thomas M.; Campbell, Erin K.; Harris, Isaac S.
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Annexin A11 mutations are associated with nuclear envelope dysfunction in vivo and in human tissues
errBRAIN
IF11.7
err2024-07-11
err1
PREAI
errMarchica, Valentina; Biasetti, Luca; Barnard, Jodi; Li, Shujing; Nikolaou, Nikolas; Frosch, Matthew P.; Lucente, Diane E.; Eldaief, Mark; King, Andrew; Fanto, Manolis; Troakes, Claire; Houart, Corinne; Smith, Bradley N.
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Telomere length analysis in amyotrophic lateral sclerosis using large-scale whole genome sequence data
err2022-12-15
err3
errOAAI
errAl Khleifat, Ahmad; Iacoangeli, Alfredo; Jones, Ashley R.; van Vugt, Joke J. F. A.; Moisse, Matthieu; Shatunov, Aleksey; Zwamborn, Ramona A. J.; van der Spek, Rick A. A.; Cooper-Knock, Johnathan; Topp, Simon; van Rheenen, Wouter; Kenna, Brendan; Van Eijk, Kristel R.; Kenna, Kevin; Byrne, Ross; Lopez, Victoria; Opie-Martin, Sarah; Vural, Atay; Campos, Yolanda; Weber, Markus; Smith, Bradley; Fogh, Isabella; Silani, Vincenzo; Morrison, Karen E.; Dobson, Richard; van Es, Michael A.; McLaughlin, Russell L.; Vourc'h, Patrick; Chio, Adriano; Corcia, Philippe; de Carvalho, Mamede; Gotkine, Marc; Panades, Monica Povedano; Mora, Jesus S.; Shaw, Pamela J.; Landers, John E.; Glass, Jonathan D.; Shaw, Christopher E.; Basak, Nazli; Hardiman, Orla; Robberecht, Wim; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.; Al-Chalabi, Ammar
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Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
err2022-08-25
err19
errOAAI
errTrist, Benjamin G.; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher; Al-Sarraj, Safa; Blair, Ian P.; Double, Kay L.
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Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
errBRAIN
IF11.7
err2022-05-05
err39
errOAAI
errTrist, Benjamin G.; Genoud, Sian; Roudeau, Stephane; Rookyard, Alexander; Abdeen, Amr; Cottam, Veronica; Hare, Dominic J.; White, Melanie; Altvater, Jens; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Blair, Ian P.; Kysenius, Kai; Crouch, Peter J.; Carmona, Asuncion; Rufin, Yann; Claverol, Stephane; Van Malderen, Stijn; Falkenberg, Gerald; Paterson, David J.; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher E.; Al-Sarraj, Safa; Cordwell, Stuart; Halliday, Glenda; Ortega, Richard; Double, Kay L.
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology (vol 53, pg 1636, 2021)
err2022-01-31
err1
errOAAI
errvan Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.
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Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
err2021-12-06
err235
errOAAI
errvan Rheenen, Wouter; van der Spek, Rick A. A.; Bakker, Mark K.; van Vugt, Joke J. F. A.; Hop, Paul J.; Zwamborn, Ramona A. J.; de Klein, Niek; Westra, Harm-Jan; Bakker, Olivier B.; Deelen, Patrick; Shireby, Gemma; Hannon, Eilis; Moisse, Matthieu; Baird, Denis; Restuadi, Restuadi; Dolzhenko, Egor; Dekker, Annelot M.; Gawor, Klara; Westeneng, Henk-Jan; Tazelaar, Gijs H. P.; van Eijk, Kristel R.; Kooyman, Maarten; Byrne, Ross P.; Doherty, Mark; Heverin, Mark; Al Khleifat, Ahmad; Iacoangeli, Alfredo; Shatunov, Aleksey; Ticozzi, Nicola; Cooper-Knock, Johnathan; Smith, Bradley N.; Gromicho, Marta; Chandran, Siddharthan; Pal, Suvankar; Morrison, Karen E.; Shaw, Pamela J.; Hardy, John; Orrell, Richard W.; Sendtner, Michael; Meyer, Thomas; Basak, Nazli; van der Kooi, Anneke J.; Ratti, Antonia; Fogh, Isabella; Gellera, Cinzia; Lauria, Giuseppe; Corti, Stefania; Cereda, Cristina; Sproviero, Daisy; D'Alfonso, Sandra; Soraru, Gianni; Siciliano, Gabriele; Filosto, Massimiliano; Padovani, Alessandro; Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Brunetti, Maura; Canosa, Antonio; Grassano, Maurizio; Beghi, Ettore; Pupillo, Elisabetta; Logroscino, Giancarlo; Nefussy, Beatrice; Osmanovic, Alma; Nordin, Angelica; Lerner, Yossef; Zabari, Michal; Gotkine, Marc; Baloh, Robert H.; Bell, Shaughn; Vourc'h, Patrick; Corcia, Philippe; Couratier, Philippe; Millecamps, Stephanie; Meininger, Vincent; Salachas, Francois; Mora Pardina, Jesus S.; Assialioui, Abdelilah; Rojas-Garcia, Ricardo; Dion, Patrick A.; Ross, Jay P.; Ludolph, Albert C.; Weishaupt, Jochen H.; Brenner, David; Freischmidt, Axel; Bensimon, Gilbert; Brice, Alexis; Durr, Alexandra; Payan, Christine A. M.; Saker-Delye, Safa; Wood, Nicholas W.; Topp, Simon; Rademakers, Rosa; Tittmann, Lukas; Lieb, Wolfgang; Franke, Andre; Ripke, Stephan; Braun, Alice; Kraft, Julia; Whiteman, David C.; Olsen, Catherine M.; Uitterlinden, Andre G.; Hofman, Albert; Rietschel, Marcella; Cichon, Sven; Nothen, Markus M.; Amouyel, Philippe; Comi, Giancarlo; Riva, Nilo; Lunetta, Christian; Gerardi, Francesca; Cotelli, Maria Sofia; Rinaldi, Fabrizio; Chiveri, Luca; Guaita, Maria Cristina; Perrone, Patrizia; Ceroni, Mauro; Diamanti, Luca; Ferrarese, Carlo; Tremolizzo, Lucio; Delodovici, Maria Luisa; Bono, Giorgio; Manera, Umberto; Vasta, Rosario; Bombaci, Alessandro; Casale, Federico; Fuda, Giuseppe; Salamone, Paolina; Iazzolino, Barbara; Peotta, Laura; Cugnasco, Paolo; De Marco, Giovanni; Torrieri, Maria Claudia; Palumbo, Francesca; Gallone, Salvatore; Barberis, Marco; Sbaiz, Luca; Gentile, Salvatore; Mauro, Alessandro; Mazzini, Letizia; De Marchi, Fabiola; Corrado, Lucia; D'Alfonso, Sandra; Bertolotto, Antonio; Gionco, Maurizio; Leotta, Daniela; Odddenino, Enrico; Imperiale, Daniele; Cavallo, Roberto; Pignatta, Pietro; De Mattei, Marco; Geda, Claudio; Papurello, Diego Maria; Gusmaroli, Graziano; Comi, Cristoforo; Labate, Carmelo; Ruiz, Luigi; Ferrandi, Delfina; Rota, Eugenia; Aguggia, Marco; Di Vito, Nicoletta; Meineri, Piero; Ghiglione, Paolo; Launaro, Nicola; Dotta, Michele; Di Sapio, Alessia; Giardini, Guido; Tiloca, Cinzia; Peverelli, Silvia; Taroni, Franco; Pensato, Viviana; Castellotti, Barbara; Comi, Giacomo P.; Del Bo, Roberto; Ceroni, Mauro; Gagliardi, Stella; Corrado, Lucia; Mazzini, Letizia; Raggi, Flavia; Simoncini, Costanza; Lo Gerfo, Annalisa; Inghilleri, Maurizio; Ferlini, Alessandra; Simone, Isabella L.; Passarella, Bruno; Guerra, Vito; Zoccolella, Stefano; Nozzoli, Cecilia; Mundi, Ciro; Leone, Maurizio; Zarrelli, Michele; Tamma, Filippo; Valluzzi, Francesco; Calabrese, Gianluigi; Boero, Giovanni; Rini, Augusto; Traynor, Bryan J.; Singleton, Andrew B.; Mitne Neto, Miguel; Cauchi, Ruben J.; Ophoff, Roel A.; Wiedau-Pazos, Martina; Lomen-Hoerth, Catherine; van Deerlin, Vivianna M.; Grosskreutz, Julian; Roediger, Annekathrin; Gaur, Nayana; Joerk, Alexander; Barthel, Tabea; Theele, Erik; Ilse, Benjamin; Stubendorff, Beatrice; Witte, Otto W.; Steinbach, Robert; Huebner, Christian A.; Graff, Caroline; Brylev, Lev; Fominykh, Vera; Demeshonok, Vera; Ataulina, Anastasia; Rogelj, Boris; Koritnik, Blaz; Zidar, Janez; Ravnik-Glavac, Metka; Glavac, Damjan; Stevic, Zorica; Drory, Vivian; Povedano, Monica; Blair, Ian P.; Kiernan, Matthew C.; Benyamin, Beben; Henderson, Robert D.; Furlong, Sarah; Mathers, Susan; McCombe, Pamela A.; Needham, Merrilee; Ngo, Shyuan T.; Nicholson, Garth A.; Pamphlett, Roger; Rowe, Dominic B.; Steyn, Frederik J.; Williams, Kelly L.; Mather, Karen A.; Sachdev, Perminder S.; Henders, Anjali K.; Wallace, Leanne; de Carvalho, Mamede; Pinto, Susana; Petri, Susanne; Weber, Markus; Rouleau, Guy A.; Silani, Vincenzo; Curtis, Charles J.; Breen, Gerome; Glass, Jonathan D.; Brown, Robert H., Jr.; Landers, John E.; Shaw, Christopher E.; Andersen, Peter M.; Groen, Ewout J. N.; van Es, Michael A.; Pasterkamp, R. Jeroen; Fan, Dongsheng; Garton, Fleur C.; McRae, Allan F.; Davey Smith, George; Gaunt, Tom R.; Eberle, Michael A.; Mill, Jonathan; McLaughlin, Russell L.; Hardiman, Orla; Kenna, Kevin P.; Wray, Naomi R.; Tsai, Ellen; Runz, Heiko; Franke, Lude; Al-Chalabi, Ammar; Van Damme, Philip; van den Berg, Leonard H.; Veldink, Jan H.
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Gene network modeling via TopNet reveals functional dependencies between diverse tumor-critical mediator genes
err2021-12-01
err1
errOAAI
errMcMurray, Helene R.; Ambeskovic, Aslihan; Newman, Laurel A.; Aldersley, Jordan; Balakrishnan, Vijaya; Smith, Bradley; Stern, Harry A.; Land, Hartmut; McCall, Matthew N.
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SCFD1 expression quantitative trait loci in amyotrophic lateral sclerosis are differentially expressed
err2021-10-07
err13
errOAAI
errIacoangeli, 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.
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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay
err2021-10-01
err5
PREAI
errGotkine, Marc; de Majo, Martina; Wong, Chun Hao; Topp, Simon D.; Michaelson-Cohen, Rachel; Epsztejn-Litman, Silvina; Eiges, Rachel; Lerner, Yossef Y.; Kanaan, Moein; Shaked, Hagar Mor; Alahmady, Nada; Vance, Caroline; Newhouse, Stephen J.; Breen, Gerome; Nishimura, Agnes L.; Shaw, Christopher E.; Smith, Bradley N.
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Identification of a novel interaction of FUS and syntaphilin may explain synaptic and mitochondrial abnormalities caused by ALS mutations
err2021-06-30
err21
errOAAI
errSalam, Shaakir; Tacconelli, Sara; Smith, Bradley N.; Mitchell, Jacqueline C.; Glennon, Elizabeth; Nikolaou, Nikolas; Houart, Corinne; Vance, Caroline
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Frequency and methylation status of selected retrotransposition competent L1 loci in amyotrophic lateral sclerosis
err2020-11-13
err13
errOAAI
errSavage, Abigail L.; Lopez, Ana Illera; Iacoangeli, Alfredo; Bubb, Vivien J.; Smith, Bradley; Troakes, Claire; Alahmady, Nada; Koks, Sulev; Schumann, Gerald G.; Al-Chalabi, Ammar; Quinn, John P.
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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity (vol 26, pg 4765, 2017)
err2020-09-04
err3
errOAAI
errLee, Youn-Bok; Baskaran, Pranetha; Gomez-Deza, Jorge; Chen, Han-Jou; Nishimura, Agnes L.; Smith, Bradley N.; Troakes, Claire; Adachi, Yoshitsugu; Stepto, Alan; Petrucelli, Leonard; Gallo, Jean-Marc; Hirth, Frank; Rogelj, Boris; Guthrie, Sarah; Shaw, Christopher E.
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CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis
errBRAIN
IF11.7
err2020-03-23
err64
errOAAI
errDobson-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.
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RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
errBRAIN
IF11.7
err2019-10-11
err67
errOAAI
errChen, 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.
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Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia
err2019-01-01
err15
errOAAI
errGkazi, Soragia Athina; Troakes, Claire; Topp, Simon; Miller, Jack W.; Vance, Caroline A.; Sreedharan, Jemeen; Al-Chalabi, Ammar; Kirby, Janine; Shaw, Pamela J.; Al-Sarraj, Safa; King, Andrew; Smith, Bradley N.; Shaw, Christopher E.
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ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function
err2018-11-01
err66
errOAAI
errde 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; Garcia Redondo, Alberto; Esteban-Perez, Jesus; 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.
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Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias
err2018-09-30
err42
errOAAI
errMehta, Puja R.; Jones, Ashley R.; Opie-Martin, Sarah; Shatunov, Aleksey; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Smith, Bradley N.; Topp, Simon; Morrison, Karen E.; Shaw, Pamela J.; Shaw, Christopher E.; Morgan, Sarah; Pittman, Alan; Al-Chalabi, Ammar
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A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-re ated neurodegeneration
errBRAIN
IF11.7
err2018-09-25
err74
errOAAI
errSolomon, Daniel A.; Stepto, Alan; Au, Wing Hei; Adachi, Yoshitsugu; Diaper, Danielle C.; Hall, Rachel; Rekhi, Anjeet; Boudi, Adel; Tziortzouda, Paraskevi; Lee, Youn-Bok; Smith, Bradley; Bridi, Jessika C.; Spinelli, Greta; Dearlove, Jonah; Humphrey, Dickon M.; Gallo, Jean-Marc; Troakes, Claire; Fanto, Manolis; Soller, Matthias; Rogelj, Boris; Parsons, Richard B.; Shaw, Christopher E.; Hortobagyi, Tibor; Hirth, Frank
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