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Volumn 16, Issue 6, 2006, Pages 396-402

136th ENMC International Workshop: Charcot-Marie-Tooth Disease Type 1A (CMT1A)8-10 April 2005, Naarden, The Netherlands

Author keywords

Ascorbic acid; Charcot Marie Tooth disease; Clinical trial; Hereditary neuropathy; Peripheral Myelin Protein 22 (PMP22)

Indexed keywords

ANTIGESTAGEN; ASCORBIC ACID; ONAPRISTONE;

EID: 33744998101     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2006.03.008     Document Type: Article
Times cited : (44)

References (23)
  • 1
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
    • Nelis E., Van Broeckhoven C., De Jonghe P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 4 (1996) 25-33
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3
  • 2
    • 0347185347 scopus 로고    scopus 로고
    • Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)
    • Sereda M.W., Meyer zu Horste G., Suter U., Uzma N., and Nave K.A. Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A). Nat Med 9 (2003) 1533-1537
    • (2003) Nat Med , vol.9 , pp. 1533-1537
    • Sereda, M.W.1    Meyer zu Horste, G.2    Suter, U.3    Uzma, N.4    Nave, K.A.5
  • 3
    • 1942422646 scopus 로고    scopus 로고
    • Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease
    • Passage E., Norreel J.C., Noack-Fraissignes P., et al. Ascorbic acid treatment corrects the phenotype of a mouse model of Charcot-Marie-Tooth disease. Nat Med 10 (2004) 396-401
    • (2004) Nat Med , vol.10 , pp. 396-401
    • Passage, E.1    Norreel, J.C.2    Noack-Fraissignes, P.3
  • 4
    • 0025997898 scopus 로고
    • Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group
    • Raeymaekers P., Timmerman V., Nelis E., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN collaborative research group. Neuromuscul Disord 1 (1991) 93-97
    • (1991) Neuromuscul Disord , vol.1 , pp. 93-97
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 5
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66 (1991) 219-232
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    de Oca-Luna, R.M.2    Slaugenhaupt, S.3
  • 6
    • 15844393894 scopus 로고    scopus 로고
    • A transgenic rat model of Charcot-Marie-Tooth disease
    • Sereda M., Griffiths I., Puhlhofer A., et al. A transgenic rat model of Charcot-Marie-Tooth disease. Neuron 16 (1996) 1049-1060
    • (1996) Neuron , vol.16 , pp. 1049-1060
    • Sereda, M.1    Griffiths, I.2    Puhlhofer, A.3
  • 7
    • 0029877942 scopus 로고    scopus 로고
    • Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA
    • Huxley C., Passage E., Manson A., et al. Construction of a mouse model of Charcot-Marie-Tooth disease type 1A by pronuclear injection of human YAC DNA. Hum Mol Genet 5 (1996) 563-569
    • (1996) Hum Mol Genet , vol.5 , pp. 563-569
    • Huxley, C.1    Passage, E.2    Manson, A.3
  • 8
    • 0034752315 scopus 로고    scopus 로고
    • Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease
    • Young P., and Suter U. Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease. Brain Res Brain Res Rev 36 (2001) 213-221
    • (2001) Brain Res Brain Res Rev , vol.36 , pp. 213-221
    • Young, P.1    Suter, U.2
  • 9
    • 0035339043 scopus 로고    scopus 로고
    • Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A
    • Perea J., Robertson A., Tolmachova T., et al. Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A. Hum Mol Genet 10 (2001) 1007-1018
    • (2001) Hum Mol Genet , vol.10 , pp. 1007-1018
    • Perea, J.1    Robertson, A.2    Tolmachova, T.3
  • 11
    • 16344375216 scopus 로고    scopus 로고
    • The AMC Linear disability score project in a population requiring residential care: psychometric properties
    • Holman R., Lindeboom R., Vermeulen M., and de Haan R.J. The AMC Linear disability score project in a population requiring residential care: psychometric properties. Health Qual Life Outcomes 2 (2004) 42
    • (2004) Health Qual Life Outcomes , vol.2 , pp. 42
    • Holman, R.1    Lindeboom, R.2    Vermeulen, M.3    de Haan, R.J.4
  • 13
    • 0036307964 scopus 로고    scopus 로고
    • Reliability of hand-held dynamometry in spinal muscular atrophy
    • Merlini L., Mazzone E., Solari A., and Morandi L. Reliability of hand-held dynamometry in spinal muscular atrophy. Muscle Nerve 26 (2002) 64-70
    • (2002) Muscle Nerve , vol.26 , pp. 64-70
    • Merlini, L.1    Mazzone, E.2    Solari, A.3    Morandi, L.4
  • 15
    • 0034899193 scopus 로고    scopus 로고
    • Inflammatory neuropathy cause and treatment (INCAT) group. Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy
    • Hughes R., Bensa S., Willison H., et al. Inflammatory neuropathy cause and treatment (INCAT) group. Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol 50 (2001) 195-201
    • (2001) Ann Neurol , vol.50 , pp. 195-201
    • Hughes, R.1    Bensa, S.2    Willison, H.3
  • 16
    • 0034701011 scopus 로고    scopus 로고
    • Psychometric evaluation of a new sensory scale in immune-mediated polyneuropathies. Inflammatory neuropathy cause and treatment (INCAT) group
    • Merkies I.S., Schmitz P.I., van der Meche F.G., and van Doorn P.A. Psychometric evaluation of a new sensory scale in immune-mediated polyneuropathies. Inflammatory neuropathy cause and treatment (INCAT) group. Neurology 54 (2000) 943-949
    • (2000) Neurology , vol.54 , pp. 943-949
    • Merkies, I.S.1    Schmitz, P.I.2    van der Meche, F.G.3    van Doorn, P.A.4
  • 17
    • 0026877917 scopus 로고
    • The MOS 36-items short-form survey (SF-36): I. Conceptual framework and items selection
    • Ware J.E., and Sherbourne C. The MOS 36-items short-form survey (SF-36): I. Conceptual framework and items selection. Med Care 30 (1992) 473-483
    • (1992) Med Care , vol.30 , pp. 473-483
    • Ware, J.E.1    Sherbourne, C.2
  • 18
    • 21044457652 scopus 로고    scopus 로고
    • Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside
    • Li J., Bai Y., Ghandour K., et al. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain 128 (2005) 1168-1177
    • (2005) Brain , vol.128 , pp. 1168-1177
    • Li, J.1    Bai, Y.2    Ghandour, K.3
  • 19
    • 31544441021 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles
    • Gallardo E., Garcia A., Combarros O., et al. Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles. Brain 129 (2006) 426-437
    • (2006) Brain , vol.129 , pp. 426-437
    • Gallardo, E.1    Garcia, A.2    Combarros, O.3
  • 20
    • 14844291447 scopus 로고    scopus 로고
    • Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography
    • Ellegala D.B., Monteith S.J., Haynor D., Bird T.D., Goodkin R., and Kliot M. Characterization of genetically defined types of Charcot-Marie-Tooth neuropathies by using magnetic resonance neurography. J Neurosurg 102 (2005) 242-245
    • (2005) J Neurosurg , vol.102 , pp. 242-245
    • Ellegala, D.B.1    Monteith, S.J.2    Haynor, D.3    Bird, T.D.4    Goodkin, R.5    Kliot, M.6
  • 21
    • 33744981925 scopus 로고    scopus 로고
    • Dietary reference intakes, The National Academies Press, Washington DC, USA; 2000.
  • 22
    • 9244219627 scopus 로고    scopus 로고
    • Vitamin C pharmakocinetics in healthy volunteers: evidence for a recommended dietary allowance
    • Levine M., Country-Cantilena C., Wang Y., et al. Vitamin C pharmakocinetics in healthy volunteers: evidence for a recommended dietary allowance. Proc Nat Acad Sci 93 (1996) 3704-3709
    • (1996) Proc Nat Acad Sci , vol.93 , pp. 3704-3709
    • Levine, M.1    Country-Cantilena, C.2    Wang, Y.3
  • 23
    • 17844398242 scopus 로고    scopus 로고
    • Vitamins E and C are safe across a broad range of intakes
    • Hathcock J.N., Azzi A., Blumberg J., et al. Vitamins E and C are safe across a broad range of intakes. Am J Clin Nutr 81 (2005) 736-745
    • (2005) Am J Clin Nutr , vol.81 , pp. 736-745
    • Hathcock, J.N.1    Azzi, A.2    Blumberg, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.