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Volumn 37, Issue 2, 1997, Pages 127-130

A family with dentato-rubro-pallido-luysian atrophy (DRPLA): An intergenerational contraction of the CAG repeat

Author keywords

anticipation; CAG repeat size; contraction; dentato rubro pallido luysian atrophy (DRPLA); maternal transmission

Indexed keywords

ADENINE; CYTOSINE; GUANINE; REPETITIVE DNA;

EID: 0031009690     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (10)
  • 1
    • 0029044667 scopus 로고
    • Dentatorubral-pallidoluysian atrophy : Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat
    • Ikeuchi T, Koide R, Tanaka H, et al: Dentatorubral-pallidoluysian atrophy : Clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat. Ann Neurol 37: 769-775, 1995
    • (1995) Ann Neurol , vol.37 , pp. 769-775
    • Ikeuchi, T.1    Koide, R.2    Tanaka, H.3
  • 2
    • 0028815025 scopus 로고
    • DNA analysis in hereditary dentatorubral-pallidoluysian atrophy : Correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation
    • Komure O, Sano A, Nishino N, et al: DNA analysis in hereditary dentatorubral-pallidoluysian atrophy : correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation. Neurology 45: 143-149, 1995
    • (1995) Neurology , vol.45 , pp. 143-149
    • Komure, O.1    Sano, A.2    Nishino, N.3
  • 3
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
    • Snell RG, MacMillan JC, Cheadle JP, et al: Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genet 4: 393-397, 1993
    • (1993) Nature Genet , vol.4 , pp. 393-397
    • Snell, R.G.1    MacMillan, J.C.2    Cheadle, J.P.3
  • 4
    • 0029009456 scopus 로고
    • Evidence for inter-generational instability in the CAG repeat in the MJDl gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease
    • Takiyama Y, Igarashi S, Rogaeva EA, et al: Evidence for inter-generational instability in the CAG repeat in the MJDl gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease. Hum Mol Genet 4: 1137-1146, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 1137-1146
    • Takiyama, Y.1    Igarashi, S.2    Rogaeva, E.A.3
  • 5
    • 0028877774 scopus 로고
    • Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia : Clinical and molecular correlations
    • Dubourg O, Durr A, Cancel G, et al: Analysis of the SCA1 CAG repeat in a large number of families with dominant ataxia : clinical and molecular correlations. Ann Neurol 37: 176-180, 1995
    • (1995) Ann Neurol , vol.37 , pp. 176-180
    • Dubourg, O.1    Durr, A.2    Cancel, G.3
  • 6
    • 0028216760 scopus 로고
    • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
    • Koide R, Ikeuchi T, Onodera O, et al: Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet 6: 9-13, 1994
    • (1994) Nature Genet , vol.6 , pp. 9-13
    • Koide, R.1    Ikeuchi, T.2    Onodera, O.3
  • 7
    • 0028335386 scopus 로고
    • Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
    • Nagafuchi S, Yanagisawa H, Sato K, et al: Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6: 14-18, 1994
    • (1994) Nature Genet , vol.6 , pp. 14-18
    • Nagafuchi, S.1    Yanagisawa, H.2    Sato, K.3
  • 8
    • 0028332350 scopus 로고
    • Maternal anticipation of DRPLA
    • Aoki M, Abe K, Kameya T, et al: Maternal anticipation of DRPLA. Hum Mol Genet 3: 1197-1198, 1994
    • (1994) Hum Mol Genet , vol.3 , pp. 1197-1198
    • Aoki, M.1    Abe, K.2    Kameya, T.3
  • 9
    • 0028797080 scopus 로고
    • Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy
    • Potter NT, Meyer MA, Zimmerman AW, et al: Molecular and clinical findings in a family with dentatorubral-pallidoluysian atrophy. Ann Neurol 37: 273-277, 1995
    • (1995) Ann Neurol , vol.37 , pp. 273-277
    • Potter, N.T.1    Meyer, M.A.2    Zimmerman, A.W.3
  • 10
    • 0028916306 scopus 로고
    • Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)
    • Ueno S, Kondoh K, Kotani Y, et al: Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA). Hum Mol Genet 4: 663-666, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 663-666
    • Ueno, S.1    Kondoh, K.2    Kotani, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.