Výsledky vyhledávání - Nicholson, Garth A

Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation Autor Cutrupi, Anthony N., Brewer, Megan H., Nicholson, Garth A., Kennerson, Marina L.

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Revisiting the pathogenic mechanism of the GJB1 5’ UTR c.-103C > T mutation causing CMTX1 Autor Grosz, Bianca R., Svaren, John, Perez-Siles, Gonzalo, Nicholson, Garth A., Kennerson, Marina L.

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A de novo EGR2 variant, c.1232A > G p.Asp411Gly, causes severe early-onset Charcot-Marie-Tooth Neuropathy Type 3 (Dejerine-Sottas Neuropathy) Autor Grosz, Bianca R., Golovchenko, Natasha B., Ellis, Melina, Kumar, Kishore, Nicholson, Garth A., Antonellis, Anthony, Kennerson, Marina L.

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Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing Autor Drew, Alexander P, Zhu, Danqing, Kidambi, Aditi, Ly, Carolyn, Tey, Shelisa, Brewer, Megan H, Ahmad-Annuar, Azlina, Nicholson, Garth A, Kennerson, Marina L

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DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss Autor Klein, Christopher J., Bird, Tom, Ertekin-Taner, Nilufer, Lincoln, Sarah, Hjorth, Robert, Wu, Yanhong, Kwok, John, Mer, Georges, Dyck, Peter J., Nicholson, Garth A.

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

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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... Autor 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

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

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

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

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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 Autor 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.

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

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Neuronal cell culture from transgenic zebrafish models of neurodegenerative disease Autor 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.

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

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Genetic basis of hindlimb loss in a naturally occurring vertebrate model Autor 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.

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

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

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

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

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

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