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Volumn 54, Issue 6, 2011, Pages

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero

Author keywords

Charcot Marie Tooth disease; Copy number variations; Genetics; Myelin protein zero

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

EID: 80052284737     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.006     Document Type: Article
Times cited : (23)

References (26)
  • 2
    • 22544457500 scopus 로고    scopus 로고
    • Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!
    • Reilly M.M. Axonal Charcot-Marie-Tooth disease: the fog is slowly lifting!. Neurology 2005, 65:186-187.
    • (2005) Neurology , vol.65 , pp. 186-187
    • Reilly, M.M.1
  • 3
    • 80052274404 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM), in, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
    • Online Mendelian Inheritance in Man, OMIM (TM), in, McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
  • 4
    • 80052275854 scopus 로고    scopus 로고
    • The Mutation Database of Inherited Peripheral Neuropathies (IPNMDB), in.
    • The Mutation Database of Inherited Peripheral Neuropathies (IPNMDB), in.
  • 11
    • 80052301791 scopus 로고    scopus 로고
    • Database of Genomics Variants, in, Department of Genetics and Genomic Biology, Toronto, Canada.
    • Database of Genomics Variants, in, Department of Genetics and Genomic Biology, Toronto, Canada.
  • 12
    • 80052285401 scopus 로고    scopus 로고
    • Decipher v5.1, in, Wellcome Trust Sanger Institute.
    • Decipher v5.1, in, Wellcome Trust Sanger Institute.
  • 13
    • 0021849731 scopus 로고
    • Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
    • Lemke G., Axel R. Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. Cell 1985, 40:501-508.
    • (1985) Cell , vol.40 , pp. 501-508
    • Lemke, G.1    Axel, R.2
  • 14
    • 0024074053 scopus 로고
    • Unwrapping the genes of myelin
    • Lemke G. Unwrapping the genes of myelin. Neuron 1988, 1:535-543.
    • (1988) Neuron , vol.1 , pp. 535-543
    • Lemke, G.1
  • 16
    • 0029065654 scopus 로고
    • Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin
    • Martini R., Mohajeri M.H., Kasper S., Giese K.P., Schachner M. Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin. J. Neurosci. 1995, 15:4488-4495.
    • (1995) J. Neurosci. , vol.15 , pp. 4488-4495
    • Martini, R.1    Mohajeri, M.H.2    Kasper, S.3    Giese, K.P.4    Schachner, M.5
  • 17
    • 77951871470 scopus 로고    scopus 로고
    • Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Dejerine-Sottas syndrome
    • Braathen G.J., Sand J.C., Russell M.B. Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Dejerine-Sottas syndrome. BMC Res. Notes 2010, 3:99.
    • (2010) BMC Res. Notes , vol.3 , pp. 99
    • Braathen, G.J.1    Sand, J.C.2    Russell, M.B.3
  • 19
    • 33748157549 scopus 로고    scopus 로고
    • Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
    • Berger P., Niemann A., Suter U. Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease). Glia 2006, 54:243-257.
    • (2006) Glia , vol.54 , pp. 243-257
    • Berger, P.1    Niemann, A.2    Suter, U.3
  • 21
    • 27244435246 scopus 로고    scopus 로고
    • Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
    • Khajavi M., Inoue K., Wiszniewski W., Ohyama T., Snipes G.J., Lupski J.R. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am. J. Hum. Genet. 2005, 77:841-850.
    • (2005) Am. J. Hum. Genet. , vol.77 , pp. 841-850
    • Khajavi, M.1    Inoue, K.2    Wiszniewski, W.3    Ohyama, T.4    Snipes, G.J.5    Lupski, J.R.6
  • 22
    • 22444435897 scopus 로고    scopus 로고
    • Process or perish: quality control in mRNA biogenesis
    • Fasken M.B., Corbett A.H. Process or perish: quality control in mRNA biogenesis. Nat. Struct. Mol. Biol. 2005, 12:482-488.
    • (2005) Nat. Struct. Mol. Biol. , vol.12 , pp. 482-488
    • Fasken, M.B.1    Corbett, A.H.2
  • 24
    • 0030611992 scopus 로고    scopus 로고
    • Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP)
    • Shy M.E., Arroyo E., Sladky J., Menichella D., Jiang H., Xu W., Kamholz J., Scherer S.S. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J. Neuropathol. Exp. Neurol. 1997, 56:811-821.
    • (1997) J. Neuropathol. Exp. Neurol. , vol.56 , pp. 811-821
    • Shy, M.E.1    Arroyo, E.2    Sladky, J.3    Menichella, D.4    Jiang, H.5    Xu, W.6    Kamholz, J.7    Scherer, S.S.8
  • 26
    • 0034611007 scopus 로고    scopus 로고
    • Schwann cell myelination requires timely and precise targeting of P(0) protein
    • Yin X., Kidd G.J., Wrabetz L., Feltri M.L., Messing A., Trapp B.D. Schwann cell myelination requires timely and precise targeting of P(0) protein. J. Cell Biol. 2000, 148:1009-1020.
    • (2000) J. Cell Biol. , vol.148 , pp. 1009-1020
    • Yin, X.1    Kidd, G.J.2    Wrabetz, L.3    Feltri, M.L.4    Messing, A.5    Trapp, B.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.