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Volumn 48, Issue 1, 1997, Pages 283-285

Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

EID: 0031015929     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.1.283     Document Type: Article
Times cited : (11)

References (13)
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    • (1885) Arch Psychiatr Nervenkr , vol.16 , pp. 698-710
    • Pelizaeus, F.1
  • 2
    • 52449138850 scopus 로고
    • Eine eigenartige familiar-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita)
    • Merzbacher L. Eine eigenartige familiar-hereditäre Erkrankungsform (Aplasia axialis extracorticalis congenita). Z Ges Neurol Psychiatr 1910;3:1-138.
    • (1910) Z Ges Neurol Psychiatr , vol.3 , pp. 1-138
    • Merzbacher, L.1
  • 3
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    • Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene
    • Schneider A, Montague P, Griffiths I, et al. Uncoupling of hypomyelination and glial cell death by a mutation in the proteolipid protein gene. Nature 1992;358:758-761.
    • (1992) Nature , vol.358 , pp. 758-761
    • Schneider, A.1    Montague, P.2    Griffiths, I.3
  • 4
  • 5
    • 0027394845 scopus 로고
    • A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family
    • Iwaki A, Muramoto T, Iwaki I, et al. A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family. Hum Mol Genet 1993;2:19-22.
    • (1993) Hum Mol Genet , vol.2 , pp. 19-22
    • Iwaki, A.1    Muramoto, T.2    Iwaki, I.3
  • 6
    • 0027762661 scopus 로고
    • A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease
    • Kurosawa K, Iwaki A, Miyake S, et al. A novel insertional mutation at exon VII of the myelin proteolipid protein gene in Pelizaeus-Merzbacher disease. Hum Mol Genet 1993;2:2187-2189.
    • (1993) Hum Mol Genet , vol.2 , pp. 2187-2189
    • Kurosawa, K.1    Iwaki, A.2    Miyake, S.3
  • 7
    • 0028142316 scopus 로고
    • Genetic homogeneity of Peliazeus-Merzbacher disease: Tight linkage to the proteolipoprotein locus in 16 affected families
    • Boespflug-Tanguy O, Mimault C, Melki J, et al. Genetic homogeneity of Peliazeus-Merzbacher disease: tight linkage to the proteolipoprotein locus in 16 affected families. Am J Hum Genet 1994;55:461-467.
    • (1994) Am J Hum Genet , vol.55 , pp. 461-467
    • Boespflug-Tanguy, O.1    Mimault, C.2    Melki, J.3
  • 8
    • 0028794116 scopus 로고
    • Novel nonsense proteolipid protein gene mutation as a course of X-linked spastic paraplegia in twin males
    • Osaka H, Kawanishi C, Inoue K, et al. Novel nonsense proteolipid protein gene mutation as a course of X-linked spastic paraplegia in twin males. Biophys Biochem Res Com 1995; 215:835-841.
    • (1995) Biophys Biochem Res Com , vol.215 , pp. 835-841
    • Osaka, H.1    Kawanishi, C.2    Inoue, K.3
  • 9
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    • Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mouse
    • Hudson LD, Berndt J, Puckett C, et al. Aberrant splicing of proteolipid protein mRNA in the dysmyelinating jimpy mouse. Proc Natl Acad Sci USA 1987;84:1454-1458.
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 1454-1458
    • Hudson, L.D.1    Berndt, J.2    Puckett, C.3
  • 10
    • 0026132370 scopus 로고
    • Major myelin proteolipid: The 4-alpha-helix topology
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    • (1991) J Membr Biol , vol.120 , pp. 233-246
    • Popot, J.L.1    Dinh, D.P.2    Dautigny, A.3
  • 11
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    • X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein gene
    • Saugier-Verber P, Munnich A, Bonneau D, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein gene. Nat Genet 1994; 6:257-262.
    • (1994) Nat Genet , vol.6 , pp. 257-262
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  • 12
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  • 13
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    • Carango P, Funanage VL, Quirós RE, et al. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease. Ann Neurol 1995;38:610-617.
    • (1995) Ann Neurol , vol.38 , pp. 610-617
    • Carango, P.1    Funanage, V.L.2    Quirós, R.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.