메뉴 건너뛰기




Volumn 11, Issue 3, 2010, Pages 110-113

Asymmetric phenotype associated with rare myelin protein zero mutation

Author keywords

Charcot Marie Tooth; Demyelinating; Hereditary; Mutation; Myelin protein zero; Neuropathy

Indexed keywords

MYELIN PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG;

EID: 77949469108     PISSN: 15220443     EISSN: 15371611     Source Type: Journal    
DOI: 10.1097/CND.0b013e3181c5058a     Document Type: Article
Times cited : (7)

References (15)
  • 1
    • 0026615047 scopus 로고
    • Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
    • Giese KP, Martini R, Lemke G, et al. Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell. 1992;71:565-576.
    • (1992) Cell , vol.71 , pp. 565-576
    • Giese, K.P.1    Martini, R.2    Lemke, G.3
  • 2
    • 0035851925 scopus 로고    scopus 로고
    • Mutations in the cytoplasmic domain of P0 reveal a role for PKCmediated phosphorylation in adhesion and myelination
    • Xu W, Shy M, Kamholz J, et al. Mutations in the cytoplasmic domain of P0 reveal a role for PKCmediated phosphorylation in adhesion and myelination. J Cell Biol. 2001;155:439-446.
    • (2001) J Cell Biol , vol.155 , pp. 439-446
    • Xu, W.1    Shy, M.2    Kamholz, J.3
  • 3
    • 35648943770 scopus 로고    scopus 로고
    • Rare myelin protein zero sequence variant in late onset CMT1B
    • Souayah N, Seltzer WK, Brannagan TH, et al. Rare myelin protein zero sequence variant in late onset CMT1B. J Neurol Sci. 2007;263:177-179.
    • (2007) J Neurol Sci , vol.263 , pp. 177-179
    • Souayah, N.1    Seltzer, W.K.2    Brannagan, T.H.3
  • 4
    • 10744221158 scopus 로고    scopus 로고
    • Phenotypic clustering in MPZ mutations
    • Shy ME, Jani A, Krajewski K, et al. Phenotypic clustering in MPZ mutations. Brain. 2004;127:371-384.
    • (2004) Brain , vol.127 , pp. 371-384
    • Shy, M.E.1    Jani, A.2    Krajewski, K.3
  • 5
    • 33644523786 scopus 로고    scopus 로고
    • Peripheral neuropathies caused by mutations in the myelin protein zero
    • Shy ME. Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci. 2006;242:55-66.
    • (2006) J Neurol Sci , vol.242 , pp. 55-66
    • Shy, M.E.1
  • 6
    • 0015609956 scopus 로고
    • Protein composition of myelin of the peripheral nervous system
    • Greenfield S, Brostoff S, Eylar EH, et al. Protein composition of myelin of the peripheral nervous system. J Neurochem. 1973;20:1207-1216.
    • (1973) J Neurochem , vol.20 , pp. 1207-1216
    • Greenfield, S.1    Brostoff, S.2    Eylar, E.H.3
  • 7
    • 0018305362 scopus 로고
    • Proposed nomenclature for PNS myelin proteins
    • Eylar EH, Uyemura K, Brostoff SW, et al. Proposed nomenclature for PNS myelin proteins. Neurochem Res. 1979;4:289-293.
    • (1979) Neurochem Res , vol.4 , pp. 289-293
    • Eylar, E.H.1    Uyemura, K.2    Brostoff, S.W.3
  • 8
    • 0037056396 scopus 로고    scopus 로고
    • Corticosteroid- Responsive asymmetric neuropathy with a myelin protein zero gene mutation
    • Watanabe M, Yamamoto N, Ohkoshi N, et al. Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. Neurology. 2002;59:767-769.
    • (2002) Neurology , vol.59 , pp. 767-769
    • Watanabe, M.1    Yamamoto, N.2    Ohkoshi, N.3
  • 9
    • 0030051641 scopus 로고    scopus 로고
    • High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients
    • Rouger H, LeGuern E, Gouider R, et al. High frequency of mutations in codon 98 of the peripheral myelin protein P0 gene in 20 French CMT1 patients. Am J Hum Genet. 1996;58:638-641.
    • (1996) Am J Hum Genet , vol.58 , pp. 638-641
    • Rouger, H.1    Le Guern, E.2    Gouider, R.3
  • 10
    • 0028145179 scopus 로고
    • A family of hereditary motor and sensory neuropathy type i with a new type of myelin P0 mutation
    • Ohnishi A, Ohnari K, Hashimoto T, et al. A family of hereditary motor and sensory neuropathy type I with a new type of myelin P0 mutation. Rinsho Shinkeigaku. 1994;34:546-551.
    • (1994) Rinsho Shinkeigaku , vol.34 , pp. 546-551
    • Ohnishi, A.1    Ohnari, K.2    Hashimoto, T.3
  • 11
    • 0035143925 scopus 로고    scopus 로고
    • Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene
    • Lagueny A, Latour P, Vital A, et al. Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene. J Neurol Neurosurg Psychiatry. 2001;70:232-235.
    • (2001) J Neurol Neurosurg Psychiatry , vol.70 , pp. 232-235
    • Lagueny, A.1    Latour, P.2    Vital, A.3
  • 12
    • 0027337214 scopus 로고
    • Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1
    • Hayasaka K, Ohnishi A, Takada G, et al. Mutation of the myelin P0 gene in Charcot-Marie-tooth neuropathy type 1. Biochem Biophys Res Commun. 1993; 194:1317-1322.
    • (1993) Biochem Biophys Res Commun , vol.194 , pp. 1317-1322
    • Hayasaka, K.1    Ohnishi, A.2    Takada, G.3
  • 13
    • 0027338081 scopus 로고
    • Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B
    • Hayasaka K, Takada G, Ionasescu VV. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet. 1993;2:1369-1372.
    • (1993) Hum Mol Genet , vol.2 , pp. 1369-1372
    • Hayasaka, K.1    Takada, G.2    Ionasescu, V.V.3
  • 14
    • 33845515932 scopus 로고    scopus 로고
    • Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes
    • Bai Y, Ianokova E, Pu Q, et al. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch Neurol. 2006;63:1787-1794.
    • (2006) Arch Neurol , vol.63 , pp. 1787-1794
    • Bai, Y.1    Ianokova, E.2    Pu, Q.3
  • 15
    • 0041114444 scopus 로고    scopus 로고
    • Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-- Marie-Tooth disease
    • Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, et al. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-- Marie-Tooth disease. Neurology. 1996;47:761-765.
    • (1996) Neurology , vol.47 , pp. 761-765
    • Gabreels-Festen, A.A.1    Hoogendijk, J.E.2    Meijerink, P.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.