Garth A. Nicholson
Active 1992–2024
- 101
- Papers
- 19,538
- Citations
- 77
- h-index
- 99
- i10-index
Citations
Citation sources
Countries
Institutions
- University College London1.1%
- Inserm1%
- The University of Sydney0.8%
- King's College London0.8%
- University of Pennsylvania0.7%
- Harvard University0.7%
- Other94.9%
Fields
- Medicine52%
- Biochemistry, Genetics and Molecular Biology30%
- Neuroscience16.1%
- Nursing0.7%
- Immunology and Microbiology0.4%
- Agricultural and Biological Sciences0.2%
- Other0.6%
Topics
- Amyotrophic Lateral Sclerosis Research13.6%
- Neurogenetic and Muscular Disorders Research8%
- Parkinson's Disease Mechanisms and Treatments5.7%
- Genetic Neurodegenerative Diseases4.8%
- RNA Research and Splicing4.3%
- Neurological diseases and metabolism4.1%
- Other59.5%
Coauthors
- Ian P. Blair22
- Kelly L. Williams20
- Marina Kennerson19
- Peter De Jonghe10
- Stephan Züchner9
- Dominic B. Rowe8
- Matthew C. Kiernan8
- Steve Vucic8
- Vincent Timmerman8
- Jonathan Baets7
- Caroline Vance6
- Danqing Zhu6
- Guy A. Rouleau6
- Jeffery M. Vance6
- Jennifer A. Fifita6
- John B. Kwok6
- Simon Topp6
- Aleksey Shatunov5
- Bradley Smith5
- Elsdon Storey5
- Emily P. McCann5
- Kenneth H. Fischbeck5
- Leslie G. Biesecker5
- Melina Ellis5
All papers
- TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Authors: Jemeen Sreedharan, Ian P. Blair, Vineeta B. Tripathi, Xun Hu, Caroline Vance, Boris Rogelj, Steven Ackerley, Jennifer C. Durnall, Kelly L. Williams, Emanuele Buratti, Francisco E. Baralle, Jacqueline de Belleroche, John D. Mitchell, P. Nigel Leigh, Ammar Al‐Chalabi, Christopher C.J. Miller, Garth A. Nicholson, Christopher E. Shaw - Science 2008 cited by 2,657
- Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Authors: Caroline Vance, Boris Rogelj, Tibor Hortobágyi, Kurt J. De Vos, Agnes L. Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul D. Wright, Jeban Ganesalingam, Kelly L. Williams, Vineeta Tripathi, Safa Al‐Saraj, Ammar Al‐Chalabi, P. Nigel Leigh, Ian P. Blair, Garth A. Nicholson, Jackie de Belleroche, Jean‐Marc Gallo, Christopher C.J. Miller, Christopher E. Shaw - Science 2009 cited by 2,599
- NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
Authors: Kevin P. Kenna, Perry T.C. van Doormaal, Annelot M. Dekker, Nicola Ticozzi, Brendan Kenna, Frank P. Diekstra, Wouter van Rheenen, Kristel R. van Eijk, Ashley R Jones, Pamela Keagle, Aleksey Shatunov, William Sproviero, Bradley Smith, Michael A. van Es, Simon Topp, Aoife Kenna, Jack W. Miller, Claudia Fallini, Cinzia Tiloca, Russell L. McLaughlin, Caroline Vance, Claire Troakes, Claudia Colombrita, Gabriele Mora, Andrea Calvo, Federico Verde, Safa Al‐Sarraj, Andrew King, Daniela Calini, Jacqueline de Belleroche, Frank Baas, Anneke J. van der Kooi, Marianne de Visser, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Meraida Polak, Seneshaw Asress, José Luís Muñoz-Blanco, Tim M. Strom, Thomas Meitinger, Karen Morrison, Giuseppe Lauria, Kelly L. Williams, P. Nigel Leigh, Garth A. Nicholson, Ian P. Blair, Claire S. Leblond, Patrick A. Dion, Guy A. Rouleau, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Khrista Boylan, Marka van Blitterswijk, Rosa Rademakers, Jesús Esteban‐Pérez, Alberto García‐Redondo, Phillip Van Damme, Wim Robberecht, Adriano Chiò, Cinzia Gellera, Carsten Drepper, Michael Sendtner, Antonia Ratti, Jonathan D. Glass, Jesús S. Mora, Nazlı Başak, Orla Hardiman, Albert C. Ludolph, Peter M. Andersen, Jochen H. Weishaupt, Robert H. Brown, Ammar Al‐Chalabi, Vincenzo Silani, Christopher E. Shaw, Leonard H. van den Berg, Jan H. Veldink, John E. Landers - Nature Genetics 2016 cited by 294
- Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis
Authors: Steve Vucic, Garth A. Nicholson, Matthew C. Kiernan - Brain 2008 cited by 463
- DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
Authors: Ying-Zhang Chen, Craig L. Bennett, Huy M. Huynh, Ian P. Blair, Imke Puls, Joy Irobi, Ines Dierick, Annette Abel, Marina Kennerson, Bruce A. Rabin, Garth A. Nicholson, Michaela Auer‐Grumbach, Klaus Wagner, Peter De Jonghe, John W. Griffin, Kenneth H. Fischbeck, Vincent Timmerman, David R. Cornblath, Phillip F. Chance - The American Journal of Human Genetics 2004 cited by 812
- Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
Authors: Anke Penno, Mary M. Reilly, Henry Houlden, Matilde Laurá, Katharina Rentsch, Vera Niederkofler, Esther T. Stoeckli, Garth A. Nicholson, Florian Eichler, Robert H. Brown, Arnold von Eckardstein, Thorsten Hornemann - Journal of Biological Chemistry 2010 cited by 378
- Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
Authors: Bradley Smith, Nicola Ticozzi, Claudia Fallini, Soragia Athina Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric Danielson, Claire Troakes, Cinzia Tiloca, Safa Al‐Sarraj, Elizabeth Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna‐Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Michael A. Simpson, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarú, Karen Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard H. van den Berg, Ammar Al‐Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Vincenzo Silani, Christopher E. Shaw, John E. Landers, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin - Neuron 2014 cited by 370
- Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations
Authors: Anna Konopka, Donna R. Whelan, Md Shafi Jamali, Emma R. Perri, Hamideh Shahheydari, Réka Tóth, Sonam Parakh, Tina Robinson, Alison Cheong, Prachi Mehta, Marta Vidal, Audrey Ragagnin, Ivan Khizhnyak, Cyril J. Jagaraj, Jasmin Galper, Natalie Grima, Anand K. Deva, Sina Shadfar, Garth A. Nicholson, Shu Yang, Suzanne M. Cutts, Zuzana Hořejšı́, Toby D. M. Bell, Adam K. Walker, Ian P. Blair, Julie D. Atkin - Molecular Neurodegeneration 2020 cited by 118
- Clinical and pathological features of a parkinsonian syndrome in a family with an Ala53Thr α‐synuclein mutation
Authors: Paul J. Spira, David M. Sharpe, Glenda M. Halliday, Julie Cavanagh, Garth A. Nicholson - Annals of Neurology 2001 cited by 624
- Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Authors: Janel O. Johnson, Ruth Chia, Danny E. Miller, Rachel Li, Ravindran Kumaran, Yevgeniya Abramzon, Nada F. Alahmady, Alan E. Renton, Simon Topp, J. Raphael Gibbs, Mark Cookson, Marya S. Sabir, Clifton L. Dalgard, Claire Troakes, Ashley R. 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 A. Glass, Anna I. Scott, Christopher E. Shaw, A. Nazlı Başak, John E. Landers, Adriano Chiò, 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, Seneshaw Asress, 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 Sorarú, 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 and 198 more - JAMA Neurology 2021 cited by 84
- FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
Authors: Ian P. Blair, Kelly L. Williams, Sadaf T. Warraich, Jennifer C. Durnall, Annora Thoeng, Jim Manavis, Peter Blumbergs, Steve Vucic, Matthew C. Kiernan, Garth A. Nicholson - Journal of Neurology Neurosurgery & Psychiatry 2009 cited by 250
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders
Authors: the Australian Imaging Biomarkers and Lifestyle study, Marta F. Nabais, the Alzheimer’s Disease Neuroimaging Initiative, Simon M. Laws, Tian Lin, Costanza L. Vallerga, Nicola J. Armstrong, Ian P. Blair, John B. Kwok, Karen A. Mather, George D. Mellick, Perminder S. Sachdev, Leanne Wallace, Anjali K. Henders, Ramona A.J. Zwamborn, Paul J. Hop, Katie Lunnon, Ehsan Pishva, Janou A. Y. Roubroeks, Hilkka Soininen, Magda Tsolaki, Patrizia Mecocci, Simon Lovestone, Iwona Kłoszewska, Bruno Vellas, Sarah Furlong, Fleur C. Garton, Robert D. Henderson, Susan Mathers, Pamela McCombe, Merrilee Needham, Shyuan T. Ngo, Garth A. Nicholson, Roger Pamphlett, Dominic B. Rowe, Frederik J. Steyn, Kelly L. Williams, Tim Anderson, Steven R. Bentley, John C. Dalrymple‐Alford, Javed Fowder, Jacob Gratten, Glenda M. Halliday, Ian B. Hickie, Martin A. Kennedy, Simon J.G. Lewis, Grant W. Montgomery, John F. Pearson, Toni L. Pitcher, Peter A. Silburn, Futao Zhang, Peter M. Visscher, Jian Yang, Anna J. Stevenson, Robert F. Hillary, Riccardo E. Marioni, Sarah E. Harris, Ian J. Deary, Ashley R. Jones, Aleksey Shatunov, Alfredo Iacoangeli, Wouter van Rheenen, Leonard H. van den Berg, Pamela J. Shaw, Cristopher E. Shaw, Karen Morrison, Ammar Al‐Chalabi, Jan H. Veldink, Eilís Hannon, Jonathan Mill, Naomi R. Wray, Allan F. McRae - Genome biology 2021 cited by 107
- Controversies and priorities in amyotrophic lateral sclerosis
Authors: Martin R. Turner, Orla Hardiman, Michael Benatar, Benjamin Rix Brooks, Adriano Chiò, Mamede de Carvalho, Paul G. Ince, Cindy Lin, Robert G. Miller, Hiroshi Mitsumoto, Garth A. Nicholson, John Ravits, Pamela J. Shaw, Michael Swash, Kevin Talbot, Bryan J. Traynor, Leonard H. van den Berg, Jan H. Veldink, Steve Vucic, Matthew C. Kiernan - The Lancet Neurology 2013 cited by 530
- Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
Authors: Julien Couthouis, Michael P. Hart, Renske Erion, Oliver D. King, Zamia Diaz, Tadashi Nakaya, Fadia Ibrahim, Hyung Jun Kim, Jelena Mojsilovic-Petrovic, Saarene Panossian, Cecilia E. Kim, Edward C. Frackelton, Jennifer A. Solski, Kelly L. Williams, Dana Clay-Falcone, Lauren Elman, Leo McCluskey, Robert A. Greene, Håkon Håkonarson, Robert G. Kalb, Virginia M.‐Y. Lee, John Q. Trojanowski, Garth A. Nicholson, Ian P. Blair, Nancy M. Bonini, Vivianna M. Van Deerlin, Zissimos P. Mourelatos, James Shorter, Aaron D. Gitler - Human Molecular Genetics 2012 cited by 286
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
Authors: 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 - Nature Communications 2022 cited by 56
- Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
Authors: Christopher J. Klein, Maria Victoria Botuyan, Yanhong Wu, Christopher J. Ward, Garth A. Nicholson, Simon Hammans, Kaori Hojo, Hiromitch Yamanishi, Adam R. Karpf, Douglas C. Wallace, Mariella Simon, Cecilie M. Lander, Lisa A Boardman, Julie M. Cunningham, Glenn E. Smith, William J. Litchy, Benjamin Boes, Elizabeth J. Atkinson, Sumit Middha, P. James B. Dyck, Joseph E. Parisi, Georges Mer, David I Smith, P. James B. Dyck - Nature Genetics 2011 cited by 395
- A yeast functional screen predicts new candidate ALS disease genes
Authors: Julien Couthouis, Michael P. Hart, James Shorter, Mariely DeJesus‐Hernandez, Renske Erion, Rachel Oristano, Annie X. Liu, Daniel M. Ramos, Niti Jethava, Divya Hosangadi, James Epstein, Ashley Chiang, Zamia Diaz, Tadashi Nakaya, Fadia Ibrahim, Hyung‐Jun Kim, Jennifer A. Solski, Kelly L. Williams, Jelena Mojsilovic‐Petrovic, Caroline Ingre, Khrista Boylan, Neill R. Graff‐Radford, Dennis W. Dickson, Dana Clay-Falcone, Lauren Elman, Leo McCluskey, Robert A. Greene, Robert G. Kalb, Virginia M.‐Y. Lee, John Q. Trojanowski, Albert C. Ludolph, Wim Robberecht, Peter M. Andersen, Garth A. Nicholson, Ian P. Blair, Oliver D. King, Nancy M. Bonini, Vivianna M. Van Deerlin, Rosa Rademakers, Zissimos P. Mourelatos, Aaron D. Gitler - National Academy of Sciences, Proceedings of the National Academy of Sciences 2011 cited by 398
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia
Authors: Russell L. McLaughlin, Dick Schijven, Wouter van Rheenen, Kristel R. van Eijk, Margaret O’Brien, René S. Kahn, Roel A. Ophoff, An Goris, Daniel G. Bradley, Ammar Al‐Chalabi, Leonard H. van den Berg, Jurjen J. Luykx, Orla Hardiman, Jan H. Veldink, Aleksey Shatunov, Annelot M. Dekker, Frank P. Diekstra, Sara L. Pulit, Rick A. A. van der Spek, Perry T.C. van Doormaal, William Sproviero, Ashley R. Jones, Garth A. Nicholson, Dominic B. Rowe, Roger Pamphlett, Matthew C. Kiernan, Denis C. Bauer, Tim Kahlke, Kelly L. Williams, Filip Eftimov, Isabella Fogh, Nicola Ticozzi, Kuang Lin, Stéphanie Millecamps, François Salachas, Vincent Meininger, Mamede de Carvalho, Susana Pinto, Jesús S. Mora, Ricardo Rojas-García, Meraida Polak, Siddharthan Chandran, Shuna Colville, Robert Swingler, Karen Morrison, Pamela J. Shaw, John Hardy, Richard W. Orrell, Alan Pittman, Katie Sidle, Pietro Fratta, Andrea Malaspina, Susanne Petri, Susanna Abdulla, Carsten Drepper, Michael Sendtner, Thomas Meyer, Martina Wiedau‐Pazos, Catherine Lomen‐Hoerth, Vivianna M. Van Deerlin, John Q. Trojanowski, Lauren Elman, Leo McCluskey, Nazlı Başak, Thomas Meitinger, Peter Lichtner, Milena Blagojevic-Radivojkov, Christian Andrés, Cindy Maurel, Gilbert Bensimon, G. Bernhard Landwehrmeyer, Alexis Brice, Christine Payan, Safa Saker-Delye, Alexandra Dürr, Nicholas Wood, Lukas Tittmann, Wolfgang Lieb, André Franke, Marcella Rietschel, Sven Cichon, Markus M. Nöuthen, Philippe Amouyel, Christophe Tzourio, Jean François Dartigues, André G. Uitterlinden, Fernando Rivadeneira, Karol Estrada, Albert Hofman, Charles Curtis, Anneke J. van der Kooi, Marianne de Visser, Markus Weber, Christopher E. Shaw, Bradley Smith, Orietta Pansarasa, Cristina Cereda, Roberto Del Bo, Giacomo P. Comi, Sandra D’Alfonso and 336 more - Nature Communications 2017 cited by 156
- Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
Authors: Ramita Dewan, Ruth Chia, Jinhui Ding, Richard A. Hickman, Thor D. Stein, Yevgeniya Abramzon, Sarah Ahmed, Marya S. Sabir, Makayla Portley, Arianna Tucci, Kristina Ibáñez, F.N.U. Shankaracharya, Pamela Keagle, Giacomina Rossi, Paola Caroppo, Fabrizio Tagliavini, Maria Landqvist Waldö, Per Johansson, Christer Nilsson, Adelani Adeleye, Camille Alba, Dagmar Bacikova, Daniel Hupalo, Elisa McGrath Martinez, Harvey B. Pollard, Gauthaman Sukumar, Anthony R. Soltis, Meila Tuck, Xijun Zhang, Matthew D. Wilkerson, Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Jason Kost, Emma L. Scotter, Kevin P. Kenna, Jack W. Miller, Cinzia Tiloca, Caroline Vance, Eric W. Danielson, Claire Troakes, Claudia Colombrita, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Daniela Calini, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor L.M.A. ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban‐Pérez, José Luís Muñoz-Blanco, Zorica Stević, Sandra D’Alfonso, Letizia Mazzini, Giacomo P. Comi, Roberto Del Bo, Mauro Ceroni, Stella Gagliardi, Giorgia Querin, Cinzia Bertolin, Wouter van Rheenen, Frank P. Diekstra, Rosa Rademakers, Marka van Blitterswijk, Khrista Boylan, 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 E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García‐Redondo, Zheyang Wu, Cinzia Gellera, Antonia Ratti, Robert H. Brown and 372 more - Neuron 2020 cited by 83
- Cortical Function in Asymptomatic Carriers and Patients WithC9orf72Amyotrophic Lateral Sclerosis
Authors: Nimeshan Geevasinga, Parvathi Menon, Garth A. Nicholson, Karl Ng, James Howells, Jillian J. Kril, Con Yiannikas, Matthew C. Kiernan, Steve Vucic - JAMA Neurology 2015 cited by 90
- A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Authors: Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curró, Macarena Cabrera‐Serrano, Igor Stevanovski, Sanjog R. Chintalaphani, Hasindu Gamaarachchi, Ben Weisburd, Chiara Folland, Gavin Monahan, Carolin K. Scriba, Lein Dofash, Mridul Johari, Bianca R. Grosz, Melina Ellis, Liam G. Fearnley, Rick M. Tankard, Justin Read, Ashirwad Merve, Natalia Dominik, Elisa Vegezzi, Ricardo Parolin Schnekenberg, Gorka Fernández‐Eulate, Marion Masingue, Diane Giovannini, Martin B. Delatycki, Elsdon Storey, M.D. Gardner, David J. Amor, Garth A. Nicholson, Steve Vucic, Robert D. Henderson, Thomas Robertson, Jason Dyke, Vicki Fabian, Frank Mastaglia, Mark R. Davis, Marina Kennerson, OPDM study group, Piraye Oflazer, Nazlı Başak, Hülya Kayserili, Gözde Yeşil, Edoardo Malfatti, James B Lilleker, Matthew Wicklund, Robert D. S. Pitceathly, Stefen Brady, Bernard Brais, David Pellerin, Stephan Züchner, Matt C. Danzi, Marina Grandis, Giacomo P. Comi, Stefania Corti, Elena Abati, Antonio Toscano, Arianna Manini, Arianna Ghia, Cristina Tassorelli, Ilaria Quartesan, Roberto Simone, Alexander M. Rossor, Mary M. Reilly, Liam Carroll, Volker Straub, Bjarne Udd, Zhiyong Chen, Gisèle Bonne, Rosaline C. M. Quinlivan, Simon Hammans, Arianna Tucci, Melanie Bahlo, Catriona McLean, Nigel G. Laing, Tanya Stojkovic, Henry Houlden, Michael G. Hanna, Ira W. Deveson, Paul J. Lockhart, Phillipa J. Lamont, Michael Fahey, Enrico Bugiardini, Gianina Ravenscroft - Nature Communications 2024 cited by 28
- CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia
Authors: 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 - Nature Communications 2016 cited by 209
- Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy
Authors: Roula Ghaoui, Sandra T. Cooper, Monkol Lek, Kristi Jones, Alastair Corbett, Stephen Reddel, Merrilee Needham, Christina Liang, Leigh B. Waddell, Garth A. Nicholson, Gina O’Grady, Simranpreet Kaur, Royston Ong, Mark R. Davis, Carolyn M. Sue, Nigel G. Laing, Kathryn N. North, Daniel G. MacArthur, Nigel F. Clarke - JAMA Neurology 2015 cited by 201
- A Tol2 Gateway-Compatible Toolbox for the Study of the Nervous System and Neurodegenerative Disease
Authors: Emily K. Don, Isabel Formella, Andrew P. Badrock, Thomas E. Hall, Marco Morsch, Elinor Hortle, Alison Hogan, Sharron Chow, Serene S. L. Gwee, Jack J. Stoddart, Garth A. Nicholson, Roger S. Chung, Nicholas J. Cole - Zebrafish 2016 cited by 83
