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 en Mol Genet Genomic Med (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 en Neurogenetics (2021)

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 en Sci Rep (2019)

Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis

por Geevasinga, Nimeshan, Menon, Parvathi, Nicholson, Garth A., Ng, Karl, Howells, James, Kril, Jillian J., Yiannikas, Con, Kiernan, Matthew C., Vucic, Steve
Publicado en JAMA Neurol (2015)

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 en Mol Genet Genomic Med (2015)

DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss

por Klein, Christopher J., Bird, Tom, Ertekin-Taner, Nilufer, Lincoln, Sarah, Hjorth, Robert, Wu, Yanhong, Kwok, John, Mer, Georges, Dyck, Peter J., Nicholson, Garth A.
Publicado 2013

Calpain Inhibition Is Protective in Machado–Joseph Disease Zebrafish Due to Induction of Autophagy

por Watchon, Maxinne, Yuan, Kristy C., Mackovski, Nick, Svahn, Adam J., Cole, Nicholas J., Goldsbury, Claire, Rinkwitz, Silke, Becker, Thomas S., Nicholson, Garth A., Laird, Angela S.
Publicado en J Neurosci (2017)

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 en NPJ Genom Med (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

A new locus for X-linked dominant Charcot–Marie–Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene

por Kennerson, Marina L., Yiu, Eppie M., Chuang, David T., Kidambi, Aditi, Tso, Shih-Chia, Ly, Carolyn, Chaudhry, Rabia, Drew, Alexander P., Rance, Gary, Delatycki, Martin B., Züchner, Stephan, Ryan, Monique M., Nicholson, Garth A.
Publicado 2013

MORC2 Mutations Cause Axonal Charcot–Marie–Tooth Disease With Pyramidal Signs

por Albulym, Obaid M., Kennerson, Marina L., Harms, Matthew B., Drew, Alexander P., Siddell, Anna H., Auer-Grumbach, Michaela, Pestronk, Alan, Connolly, Anne, Baloh, Robert H., Zuchner, Stephan, Reddel, Stephen W., Nicholson, Garth A.
Publicado en Ann Neurol (2016)

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 en Biol Open (2018)

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 en Biol Open (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 en Zebrafish (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 en Sci Rep (2019)

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 en PLoS Genet (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 en Aging (Albany NY) (2020)

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome

por Kumar, Kishore R, Cortese, Andrea, Tomlinson, Susan E, Efthymiou, Stephanie, Ellis, Melina, Zhu, Danqing, Stoll, Marion, Dominik, Natalia, Tisch, Stephen, Tchan, Michel, Wu, Kathy H C, Devery, Sophie, Spring, Penelope J, Hawke, Simon, Cremer, Phillip, Ng, Karl, Reilly, Mary M, Nicholson, Garth A, Houlden, Henry, Kennerson, Marina
Publicado en Brain (2020)

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

por Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, Strickland, Alleene V., Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C., Takata, Reinaldo I., Speck-Martins, Carlos E., Mercer, Julian F.B., Nicholson, Garth A., Kennerson, Marina L.
Publicado en Metallomics (2016)