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• W2000560382 abstract "Journal of the Peripheral Nervous SystemVolume 16, Issue 3 p. 272-274 Extended treatment of childhood Charcot-Marie-Tooth disease with high-dose ascorbic acid Joshua Burns, Corresponding Author Joshua Burns Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, New South Wales, AustraliaAssoc. Prof. Joshua Burns, PhD, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia. Tel: +(61)2-9845-1228; Fax: +(61)2-9845-1317; E-mail: [email protected]Search for more papers by this authorRobert A. Ouvrier, Robert A. Ouvrier Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, New South Wales, AustraliaSearch for more papers by this authorEppie M. Yiu, Eppie M. Yiu Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Australia Murdoch Children's Research Institute, Department of Paediatrics, Faculty of Medicine, University of Melbourne, Victoria, AustraliaSearch for more papers by this authorMonique M. Ryan, Monique M. Ryan Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Australia Murdoch Children's Research Institute, Department of Paediatrics, Faculty of Medicine, University of Melbourne, Victoria, AustraliaSearch for more papers by this author Joshua Burns, Corresponding Author Joshua Burns Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, New South Wales, AustraliaAssoc. Prof. Joshua Burns, PhD, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead NSW 2145, Australia. Tel: +(61)2-9845-1228; Fax: +(61)2-9845-1317; E-mail: [email protected]Search for more papers by this authorRobert A. Ouvrier, Robert A. Ouvrier Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, The University of Sydney, New South Wales, AustraliaSearch for more papers by this authorEppie M. Yiu, Eppie M. Yiu Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Australia Murdoch Children's Research Institute, Department of Paediatrics, Faculty of Medicine, University of Melbourne, Victoria, AustraliaSearch for more papers by this authorMonique M. Ryan, Monique M. Ryan Children's Neuroscience Centre, Royal Children's Hospital, Melbourne, Australia Murdoch Children's Research Institute, Department of Paediatrics, Faculty of Medicine, University of Melbourne, Victoria, AustraliaSearch for more papers by this author First published: 17 October 2011 https://doi.org/10.1111/j.1529-8027.2011.00348.xCitations: 2Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References Burns J, Bray P, Cross L, North KN, Ryan MM, Ouvrier RA (2008). Hand involvement in children with Charcot-Marie-Tooth disease type 1A. Neuromuscul Disord 18: 970– 973. Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, Fahey MC, Ryan MM (2009a). Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial. Lancet Neurol 8: 537– 544. Burns J, Ryan MM, Ouvrier RA (2009b). Evolution of foot and ankle manifestations in children with CMT1A. Muscle Nerve 39: 158– 166. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA (2010). Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Neurology 75: 726– 731. LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A (1997). Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 41: 104– 108. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219– 232. Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, Stojkovic T, Bernard R, Jouve E, Pitel S, Vacherot F, Remec JF, Jomir L, Azabou E, Al-Moussawi M, Lefebvre MN, Attolini L, Yaici S, Tanesse D, Fontes M, Pouget J, Blin O (2009). Effect of ascorbic acid in patients with Charcot-Marie-Tooth disease type 1A: a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 8: 1103– 1110. Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, Santoro L, Vita G, Quattrone A, Padua L, Gemignani F, Visioli F, Laurà M, Radice D, Calabrese D, Hughes RAC, Solari A (2011). Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 10: 320– 328. Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, Thirion X, Robaglia-Schlupp A, Pellissier JF, Fontes M (2004). Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10: 396– 401. Sturtz F, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur JM, Mabin D, Chazot G, Vandenberghe A (1997). Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (Type 1A) disease. Eur Neurol 38: 26– 30. Verhamme C, de Haan R, Vermeulen M, Baas F, de Visser M, van Schaik I (2009). Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Medicine 7: 70. Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F (2010). Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. Eur J Hum Genet 18: 421– 428. Yiu E, Burns J, Ryan MM, Ouvrier RA (2008). Neurophysiologic abnormalities in children with Charcot-Marie-Tooth disease type 1A. J Peripher Nerv Syst 13: 236– 241. Zhang F, Khajavi M, Connolly AM, Towne CF, Batish SD, Lupski JR (2009). The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet 41: 849– 853. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, Batish SD, De Vriendt E, De Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, Van Maldergem L, Baas F, Timmerman V, Lupski JR (2010). Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 86: 892– 903. Citing Literature Volume16, Issue3September 2011Pages 272-274 ReferencesRelatedInformation" @default.
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