Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation

by Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson
Published 2016-10-01

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter:

by Melanie A Knight, Marina L Kennerson, Richard J Anney, Tohru Matsuura, Garth A Nicholson, Peyman Salimi-Tari, R.J.McKinlay Gardner, Elsdon Storey, Susan M Forrest
Published 2003-07-01

Targeted next generation sequencing identifies a genetic spectrum of DNA variants in patients with hemiplegic migraine

by Neven Maksemous, Robert A Smith, Heidi G Sutherland, Bridget H Maher, Omar Ibrahim, Garth A Nicholson, Elisabeth P Carpenter, Rod A Lea, M Zameel Cader, Lyn R Griffiths
Published 2019-10-01

Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells.

by Jamie Rae Acosta, Claire Goldsbury, Claire Winnick, Andrew P Badrock, Stuart T Fraser, Angela S Laird, Thomas E Hall, Emily K Don, Jennifer A Fifita, Ian P Blair, Garth A Nicholson, Nicholas J Cole
Published 2014-01-01

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

by Jamie R. Acosta, Maxinne Watchon, Kristy C. Yuan, Jennifer A. Fifita, Adam J. Svahn, Emily K. Don, Claire G. Winnick, Ian P. Blair, Garth A. Nicholson, Nicholas J. Cole, Claire Goldsbury, Angela S. Laird
Published 2018-10-01

Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo

by Maxinne Watchon, Luan Luu, Katherine J. Robinson, Kristy C. Yuan, Alana De Luca, Hannah J. Suddull, Madelaine C. Tym, Gilles J. Guillemin, Nicholas J. Cole, Garth A. Nicholson, Roger S. Chung, Albert Lee, Angela S. Laird
Published 2021-08-01

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

by Emily K. Don, Tanya A. de Jong-Curtain, Karen Doggett, Thomas E. Hall, Benjamin Heng, Andrew P. Badrock, Claire Winnick, Garth A. Nicholson, Gilles J. Guillemin, Peter D. Currie, Daniel Hesselson, Joan K. Heath, Nicholas J. Cole
Published 2016-03-01

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.

by Megan H Brewer, Rabia Chaudhry, Jessica Qi, Aditi Kidambi, Alexander P Drew, Manoj P Menezes, Monique M Ryan, Michelle A Farrar, David Mowat, Gopinath M Subramanian, Helen K Young, Stephan Zuchner, Stephen W Reddel, Garth A Nicholson, Marina L Kennerson
Published 2016-07-01

Impaired NHEJ repair in amyotrophic lateral sclerosis is associated with TDP-43 mutations

by Anna Konopka, Donna R. Whelan, Md Shafi Jamali, Emma Perri, Hamideh Shahheydari, Reka P. Toth, Sonam Parakh, Tina Robinson, Alison Cheong, Prachi Mehta, Marta Vidal, Audrey M. G. Ragagnin, Ivan Khizhnyak, Cyril J. Jagaraj, Jasmin Galper, Natalie Grima, Anand Deva, Sina Shadfar, Garth A. Nicholson, Shu Yang, Suzanne M. Cutts, Zuzana Horejsi, Toby D. M. Bell, Adam K. Walker, Ian P. Blair, Julie D. Atkin
Published 2020-09-01

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

by Kelly L. Williams, Simon Topp, Shu Yang, Bradley Smith, Jennifer A. Fifita, Sadaf T. Warraich, Katharine Y. Zhang, Natalie 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 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, Athina Soragia Gkazi, Jack Miller, Joanne Stockton, William S. Brooks, Karyn Boundy, Meraida Polak, José Luis Muñoz-Blanco, Jesús Esteban-Pérez, Alberto Rábano, Orla Hardiman, Karen E. Morrison, Nicola Ticozzi, Vincenzo Silani, Jacqueline de Belleroche, Jonathan D. Glass, John B. J. 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
Published 2016-04-01