Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation

por Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Publicado 2018

Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1

por Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.
Publicado 2021

Identity-by-descent analysis of CMTX3 links three families through a common founder

por Henden, Lyndal, Grosz, Bianca R., Ellis, Melina, Nicholson, Garth A., Kennerson, Marina, Williams, Kelly L.
Publicado 2022

A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy)

por Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.
Publicado 2019

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

por Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Publicado 2015

Charcot–Marie–tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMT...

por Narayanan, Ramesh K, Brewer, Megan H, Perez-Siles, Gonzalo, Ellis, Melina, Ly, Carolyn, Burgess, Andrew, Neumann, Brent, Nicholson, Garth A, Vucic, Steve, Kennerson, Marina L
Publicado 2021

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

por Henden, Lyndal, Twine, Natalie A., Szul, Piotr, McCann, Emily P., Nicholson, Garth A., Rowe, Dominic B., Kiernan, Matthew C., Bauer, Denis C., Blair, Ian P., Williams, Kelly L.
Publicado 2020

Pedigree with frontotemporal lobar degeneration – motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9

por Luty, Agnes A, Kwok, John BJ, Thompson, Elizabeth M, Blumbergs, Peter, Brooks, William S, Loy, Clement T, Dobson-Stone, Carol, Panegyres, Peter K, Hecker, Jane, Nicholson, Garth A, Halliday, Glenda M, Schofield, Peter R
Publicado 2008

Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells

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

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

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

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

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

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

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

Motor Neuron Abnormalities Correlate with Impaired Movement in Zebrafish that Express Mutant Superoxide Dismutase 1

por Robinson, Katherine J., Yuan, Kristy C., Don, Emily K., Hogan, Alison L., Winnick, Claire G., Tym, Madelaine C., Lucas, Caitlin W., Shahheydari, Hamideh, Watchon, Maxinne, Blair, Ian P., Atkin, Julie D., Nicholson, Garth A., Cole, Nicholas J., Laird, Angela S.
Publicado 2019

Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

por Tarr, Ingrid S., McCann, Emily P., Benyamin, Beben, Peters, Timothy J., Twine, Natalie A., Zhang, Katharine Y., Zhao, Qiongyi, Zhang, Zong-Hong, Rowe, Dominic B., Nicholson, Garth A., Bauer, Denis, Clark, Susan J., Blair, Ian P., Williams, Kelly L.
Publicado 2019

Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy

por Cutrupi, Anthony N, Narayanan, Ramesh K, Perez-Siles, Gonzalo, Grosz, Bianca R, Lai, Kaitao, Boyling, Alexandra, Ellis, Melina, Lin, Ruby C Y, Neumann, Brent, Mao, Di, Uesugi, Motonari, Nicholson, Garth A, Vucic, Steve, Saporta, Mario A, Kennerson, Marina L
Publicado 2022

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

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

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease

por Akçimen, Fulya, Martins, Sandra, Liao, Calwing, Bourassa, Cynthia V., Catoire, Hélène, Nicholson, Garth A., Riess, Olaf, Raposo, Mafalda, França, Marcondes C., Vasconcelos, João, Lima, Manuela, Lopes-Cendes, Iscia, Saraiva-Pereira, Maria Luiza, Jardim, Laura B., Sequeiros, Jorge, Dion, Patrick A., Rouleau, Guy A.
Publicado 2020

Exome sequencing to identify de novo mutations in sporadic ALS trios

por Chesi, Alessandra, Staahl, Brett T., Jovicic, Ana, Couthouis, Julien, Fasolino, Maria, Raphael, Alya R., Yamazaki, Tomohiro, Elias, Laura, Polak, Meraida, Kelly, Crystal, Williams, Kelly L., Fifita, Jennifer A., Maragakis, Nicholas J., Nicholson, Garth A., King, Oliver D., Reed, Robin, Crabtree, Gerald R., Blair, Ian P., Glass, Jonathan D., Gitler, Aaron D.
Publicado 2013

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

por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado 2017

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

por Thomas-Jinu, Swapna, Gordon, Patricia M., Fielding, Triona, Taylor, Richard, Smith, Bradley N., Snowden, Victoria, Blanc, Eric, Vance, Caroline, Topp, Simon, Wong, Chun-Hao, Bielen, Holger, Williams, Kelly L., McCann, Emily P., Nicholson, Garth A., Pan-Vazquez, Alejandro, Fox, Archa H., Bond, Charles S., Talbot, William S., Blair, Ian P., Shaw, Christopher E., Houart, Corinne
Publicado 2017