1) Rossor AM, Polke JM, Houlden H, Reilly MM: Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat Rev Neurol 9: 562-571, 2013
2) Young P, De Jonghe P, Stogbauer F, Butterfass-Bahloul T: Treatment for Charcot-Marie-Tooth disease. Cochrane Database Syst Rev CD006052, 2008
3) Passage E, Norreel JC, Noack-Fraissignes P, Sanguedolce V, Pizant J, et al: Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10: 396-401, 2004
4) Huxley C, Passage E, Robertson AM, Youl B, Huston S, et al: Correlation between varying levels of PMP22 expression and the degree of demyelination and reduction in nerve conduction velocity in transgenic mice. Hu Mol Genet 7: 449-458, 1998
5) Saberan-Djoneidi D, Sanguedolce V, Assouline Z, Levy N, Passage E, et al: Molecular dissection of the Schwann cell specific promoter of the PMP22 gene. Gene 248: 223-231, 2000
6) Kaya F, Belin S, Bourgeois P, Micaleff J, Blin O, et al: Ascorbic acid inhibits PMP22 expression by reducing cAMP levels. Neuromuscul Disord 17: 248-253, 2007
7) Verhamme C, de Haan RJ, Vermeulen M, Baas F, de Visser M, et al: Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial. BMC Med 7: 70, 2009
8) Burns J, Ouvrier RA, Yiu EM, Joseph PD, Kornberg AJ, et al: 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, 2009
9) Micallef J, Attarian S, Dubourg O, Gonnaud PM, Hogrel JY, et al: 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, 2009
10) Pareyson D, Reilly MM, Schenone A, Fabrizi GM, Cavallaro T, et al: Ascorbic acid in Charcot-Marie-Tooth disease type 1A (CMT-TRIAAL and CMT-TRAUK): a double-blind randomised trial. Lancet Neurol 10: 320-328, 2011
11) Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, et al: Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 70: 378-383, 2008
12) Lewis RA, McDermott MP, Herrmann DN, Hoke A, Clawson LL, et al: High-dosage ascorbic acid treatment in Charcot-Marie-Tooth disease type 1A: results of a randomized, double-masked, controlled trial. JAMA Neurol 70: 981-987, 2013
13) Weber P, Bendich A, Schalch W: Vitamin C and human health--a review of recent data relevant to human requirements. Int J Vitam Nutr Res. 66: 19-30, 1996
14) Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, et al: The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 120 (Pt 3): 465-478, 1997
15) Burns J, Ouvrier R, Estilow T, Shy R, Laura M, et al: Validation of the Charcot-Marie-Tooth disease pediatric scale as an outcome measure of disability. Ann Neurol 71: 642-652, 2012
16) Visioli F, Reilly MM, Rimoldi M, Solari A, Pareyson D; for the CMT-TRIAAL & CMT-TRAUK Groups: Vitamin C and Charcot-Marie-Tooth 1A: pharmacokinetic considerations. PharmaNutrition 1: 10-12, 2013
17) Sahenk Z, Galloway G, Clark KR, Malik V, Rodino-Klapac LR, et al: AAV1.NT-3 gene therapy for charcot-marie-tooth neuropathy. Mol Ther 22: 511-521, 2014