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

per Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.
Publicat a Mol Genet Genomic Med (2018)

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

per Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.
Publicat a 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)

per Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.
Publicat a Sci Rep (2019)

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

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

Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing

per Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L
Publicat a Mol Genet Genomic Med (2015)

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

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

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

per 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.
Publicat a J Neurosci (2017)

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

per 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.
Publicat a 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

per 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
Publicat 2008

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

per 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.
Publicat 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

per 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.
Publicat 2013

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

per 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.
Publicat a Ann Neurol (2016)

Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease

per 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.
Publicat a Biol Open (2018)

Genetic basis of hindlimb loss in a naturally occurring vertebrate model

per 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.
Publicat a Biol Open (2016)

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

per 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.
Publicat a Zebrafish (2019)

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

per 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.
Publicat a Sci Rep (2019)

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

per 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.
Publicat a PLoS Genet (2016)

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

per 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.
Publicat a Aging (Albany NY) (2020)

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

per 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
Publicat a Brain (2020)

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

per 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.
Publicat a Metallomics (2016)