检索结果 - Nicholson, Garth A

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