Browsing by Author Yiu, Eppie M.

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Issue DateTitleAuthor(s)Citation
2009Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trialBurns, Joshua; Ouvrier, Robert; Fahey, Michael; Joseph, Pathma; Kornberg, Andrew J.; Ryan, Monique; Yiu, Eppie M.; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthAscorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial, Lancet Neurology, vol.8, 6, 2009,pp 537-544
2011Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acidBurns, Joshua; Ouvrier, Robert; Ryan, Monique; Yiu, Eppie M.; Clinical and Rehabilitation Sciences; Children's Hospital Westmead: Paediatrics & Child HealthExtended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid, Journal of the Peripheral Nervous System, vol.16, N/A, 2011,pp 272-274
2013A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneChaudhry, Rabia; Kennerson, Marina; Nicholson, Garth; Zuchner, Stephen; Chuang, David; Delatyckl, Martin; Drew, Alexander; Kidambi, Aditi; Ly, Carolyn; Rance, Gary; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene, Human Molecular Genetics, vol.22, 7, 2013,pp 1404-1416
2016Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationDrew, Alexander Peter; Grant, Adrienne; Kennerson, Marina; Ly, Carolyn; Nicholson, Garth; Perez-Siles, Gonzalo; Chuang, David; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: ANZAC Research Institute; Biological Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation, Neurobiology of Disease, vol.94, N/A, 2016,pp 237-244
2016Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationDrew, Alexander Peter; Grant, Adrienne; Kennerson, Marina; Ly, Carolyn; Nicholson, Garth; Perez-Siles, Gonzalo; Chuang, David; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: ANZAC Research Institute; Biological Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation, Neurobiology of Disease, vol.94, N/A, 2016,pp 237-244
2011A retrospective review of X-linked Charcot-Marie-Tooth disease in childhoodNicholson, Garth; Ouvrier, Robert; Fagan, E. R.; Geevasinga, N.; Ryan, M. M.; Yiu, Eppie M.; Concord Clinical School: ANZAC Research Institute; Children's Hospital Westmead: Paediatrics & Child HealthA retrospective review of X-linked Charcot-Marie-Tooth disease in childhood, Neurology, vol.76, N/A, 2011,pp 461-466