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Volumn 240, Issue 1, 1998, Pages 1-4

Absence of mutations in peripheral myelin protein-22, myelin protein zero, and connexin 32 in autosomal recessive Dejerine-Sottas syndrome

Author keywords

Connexin 32; Dejerine Sottas syndrome; Molecular genetics; Myelin protein zero; Peripheral myelin protein 22

Indexed keywords

CONNEXIN 32; MYELIN PROTEIN;

EID: 0032472256     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(97)00887-2     Document Type: Article
Times cited : (11)

References (18)
  • 3
    • 0030015647 scopus 로고    scopus 로고
    • Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
    • Bolino A., Brancolini V., Bono F., Bruni A., Gambardella A., Romeo G., Quattrone A., Devoto M. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum. Mol. Genet. 5:1996;1051-1054.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1051-1054
    • Bolino, A.1    Brancolini, V.2    Bono, F.3    Bruni, A.4    Gambardella, A.5    Romeo, G.6    Quattrone, A.7    Devoto, M.8
  • 4
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • In P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), Saunders, Philadelphia, PA
    • Dyck, P.J., Chance, P., Lebo, R. and Carney, J.A., Hereditary motor and sensory neuropathies. In P.J. Dyck, P.K. Thomas, J.W. Griffin, P.A. Low and J.F. Poduslo (Eds.), Peripheral Neuropathy, Saunders, Philadelphia, PA, 1993, pp. 1094-1136.
    • (1993) Peripheral Neuropathy , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.2    Lebo, R.3    Carney, J.A.4
  • 5
    • 0029880857 scopus 로고    scopus 로고
    • A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • Ikegami T., Nicholson G., Ikeda H., Ishida A., Johnston H., Wise G., Ouvrier R., Hayasaka K. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Biochem. Biophys. Res. Commun. 222:1996;107-110.
    • (1996) Biochem. Biophys. Res. Commun. , vol.222 , pp. 107-110
    • Ikegami, T.1    Nicholson, G.2    Ikeda, H.3    Ishida, A.4    Johnston, H.5    Wise, G.6    Ouvrier, R.7    Hayasaka, K.8
  • 8
    • 0017377998 scopus 로고
    • A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies
    • Kennedy W.R., Sung J.H., Berry J.F. A case of congenital hypomyelination neuropathy. Clinical, morphological, and chemical studies. Arch. Neurol. 34:1977;337-345.
    • (1977) Arch. Neurol. , vol.34 , pp. 337-345
    • Kennedy, W.R.1    Sung, J.H.2    Berry, J.F.3
  • 9
    • 0029849358 scopus 로고    scopus 로고
    • Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    • LeGuern E., Guilbot A., Kessali M., Ravise N., Tassin J., Maisonobe T., Grid D., Brice A. Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33. Hum. Mol. Genet. 5:1996;1685-1688.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1685-1688
    • Leguern, E.1    Guilbot, A.2    Kessali, M.3    Ravise, N.4    Tassin, J.5    Maisonobe, T.6    Grid, D.7    Brice, A.8
  • 11
    • 0023127966 scopus 로고
    • The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood
    • Ouvrier R.A., McLeod J.G., Conchin T.E. The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain. 110:1987;121-148.
    • (1987) Brain , vol.110 , pp. 121-148
    • Ouvrier, R.A.1    McLeod, J.G.2    Conchin, T.E.3
  • 14
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa B.B., Dyck P.J., Marks H.G., Chance P.F., Lupski J.R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat. Genet. 5:1993;269-273.
    • (1993) Nat. Genet. , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5
  • 18
    • 0031028126 scopus 로고    scopus 로고
    • A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies
    • Young P., Wiebusch H., Stogbauer F., Ringelstein B., Assmann G., Funke H. A novel frameshift mutation in PMP22 accounts for hereditary neuropathy with liability to pressure palsies. Neurology. 48:1997;450-452.
    • (1997) Neurology , vol.48 , pp. 450-452
    • Young, P.1    Wiebusch, H.2    Stogbauer, F.3    Ringelstein, B.4    Assmann, G.5    Funke, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.