Browsing by Author Zuchner, Stephan

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Issue DateTitleAuthor(s)Citation
2015CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysisBurns, Joshua; Bacon, C; Bundy, B; Day, J; Feely, S.; Finkel, R S; Fridman, Vera; Grider, T; Herrmann, David; Kirk, C A; Laura, Matilde; Li, J; Lloyd, Thomas; Moroni, I; Muntoni, Francesco; Pagliano, E; Pareyson, Davide; Piscosquito, G; Ramchandren, S; Reilly, M; Scherer, Steven; Shy, Michael; Shy, Rosemary; Siskind, C; Sumner, Charlotte; Yum, Sabrina; Zuchner, Stephan; Clinical and Rehabilitation SciencesCMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis, Journal of Neurology, Neurosurgery and Psychiatry, vol.86, 8, 2015,pp 873-878
2010Compound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral NeuropathyNicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Cherukuri, Praveen F.; Chu, Kristine; Cruz, Pedro; Green, Eric D.; Hansen, Nancy F.; Hou, Ya-Ming; Igarashi, Takao; Ionasescu, Victor; Iyer, Ram; Liu, Cuiping; Lupski, James; McLaughlin, Heather M.; Mullikin, James C.; NISC Comparative Sequencing Program, -; Pehlivan, Davut; Sakaguchi, Reiko; Searby, Charles; Szigeti, Kinga; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research InstituteCompound Heterozygosity for Loss-of-Function Lysyl-tRNA Synthetase Mutations in a Patient with Peripheral Neuropathy, American Journal of Human Genetics, vol.87, 4,pp 560-566
2016Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal RegionOuvrier, Robert; Cogne, Benjamin; Devaux, Jerome; Isidor, Bertrand; Magee, A; Magy, Laurent; Mathis, Stephane; Nizon, Mathilde; Pereon, Yann; Richard, Laurence; Vallat, Jean-Michel; Zuchner, Stephan; Childrens Hospital Westmead: Paediatrics & Child HealthContactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region, Journal of Neuropathology and Experimental Neurology, vol.75, 12, 2016,pp 1155-1159
2016MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signsAlbulym, Obaid M; Drew, Alexander Peter; Kennerson, Marina; Nicholson, Garth; Reddel, Stephen; Siddell, Anna; Auer-Grumbach, Michaela; Baloh, Robert H; Connolly, Anne; Harms, Matthew; Pestronk, Alan; Zuchner, Stephan; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs, Annals of Neurology, vol.79, 3, 2016,pp 419-427
2009Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathyKennerson, Marina; Nicholson, Garth; Baets, Jonathan; Berciano, Jose; Berneman, Zwi N.; Bienfait, Henriette; Claeys, Kristl; De Jonghe, Peter; De Veuster, Ilse; De Vriendt, Els; Garcia, Antonio; Lammens, Martin; Merory, John; Nelis, Eva; Storey, Elsdon; Timmerman, Vincent; Vance, Jefferey M.; Verhoeven, Kristien; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePhenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy, Brain, vol.132, 7, 2009,pp 1741-1752
2012A Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N)Kennerson, Marina; Nicholson, Garth; Antonellis, Anthony; Biesecker, Leslie G.; Giblin, William; Hou, Ya-Ming; Lee, Yi-Chung; Lupski, James; McLaughlin, Heather M.; Sakaguchi, Reiko; Talbot, Kevin N.; Vance, Jefferey M.; Wilson, Thomas E.; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA Recurrent Loss-of-Function Alanyl-tRNA Synthetase (AARS) Mutation in Patients with Charcot-Marie-Tooth Disease Type 2N (CMT2N), Human Mutation, vol.33, 1, 2012,pp 244-253
2016Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3Brewer, Megan Hwa; Chaudhry, Rabia; Kennerson, Marina; Menezes, Manoj; Nicholson, Garth; Qi, Jessica; Young, Helen Kathryn; Drew, Alexander P; Farrar, Michelle A; Kidambi, Aditi; Mowat, David; Reddel, Stephen; Ryan, Monique; Subramanian, Gopinath M; Zuchner, Stephan; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Clinical and Rehabilitation Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: Pathology; Childrens Hospital Westmead: Paediatrics & Child HealthWhole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3, PLoS Genetics, vol.12, 7, 2016,pp Article number e1006177-N/A