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Volumn 77, Issue 4, 2006, Pages 534-537

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

EID: 33645574224     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2005.073437     Document Type: Article
Times cited : (12)

References (9)
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    • Shy, M.E.1    Jani, A.2    Krajewski, K.3
  • 2
    • 0027584197 scopus 로고
    • The molecular genetics of myelination: An update
    • Lemke G. The molecular genetics of myelination: an update. Glia 1993;7:263-71.
    • (1993) Glia , vol.7 , pp. 263-271
    • Lemke, G.1
  • 3
    • 0042622380 scopus 로고    scopus 로고
    • SWISS-MODEL: An automated protein homology-modeling server
    • Schwede T, Kopp J, Guex N, et al. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res 2003;31:3381-5.
    • (2003) Nucleic Acids Res , vol.31 , pp. 3381-3385
    • Schwede, T.1    Kopp, J.2    Guex, N.3
  • 4
    • 0033027371 scopus 로고    scopus 로고
    • Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
    • Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999;66:779-82.
    • (1999) J Neurol Neurosurg Psychiatry , vol.66 , pp. 779-782
    • Chapon, F.1    Latour, P.2    Diraison, P.3
  • 5
    • 0032949034 scopus 로고    scopus 로고
    • The Thr 124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr 124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122:281-90.
    • (1999) Brain , vol.122 , pp. 281-290
    • De Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 6
    • 0344011468 scopus 로고    scopus 로고
    • Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene
    • Auer-Grumbach M, Strasser-Fuchs S, Robl T, et al. Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. Neurology 2003;61:1435-7.
    • (2003) Neurology , vol.61 , pp. 1435-1437
    • Auer-Grumbach, M.1    Strasser-Fuchs, S.2    Robl, T.3
  • 7
    • 0027485541 scopus 로고
    • New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1
    • Himoro M, Yoshikawa H, Matsui T, et al. New mutation of the myelin P0 gene in a pedigree of Charcot-Marie-Tooth neuropathy 1. Biochem Mol Biol Int 1993;31:169-73.
    • (1993) Biochem Mol Biol Int , vol.31 , pp. 169-173
    • Himoro, M.1    Yoshikawa, H.2    Matsui, T.3
  • 8
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    • Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies
    • Silander K, Meretoja P, Juvonen V, et al. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies. Hum Mutat 1998;12:59-68.
    • (1998) Hum Mutat , vol.12 , pp. 59-68
    • Silander, K.1    Meretoja, P.2    Juvonen, V.3
  • 9
    • 0036157054 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
    • Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51:190-201.
    • (2002) Ann Neurol , vol.51 , pp. 190-201
    • Boerkoel, C.F.1    Takashima, H.2    Garcia, C.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.