메뉴 건너뛰기




Volumn 358, Issue 2, 2004, Pages 107-110

A novel haplotype of spinocerebellar ataxia type 6 contributes to the highest prevalence in Western Japan

Author keywords

CACNA1A; CAG repeat; Founder effect; Haplotype; Microsatellite; Single nucleotide polymorphisms; Spinocerebellar ataxia type 6

Indexed keywords

ADULT; AGED; ARTICLE; CHROMOSOME; CONTROLLED STUDY; DISEASE PREDISPOSITION; GENOTYPE; HAPLOTYPE; HUMAN; JAPAN; MAJOR CLINICAL STUDY; MICROSATELLITE MARKER; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SPINOCEREBELLAR DEGENERATION;

EID: 1542509359     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2004.01.007     Document Type: Article
Times cited : (4)

References (14)
  • 2
    • 0030810204 scopus 로고    scopus 로고
    • Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK
    • Leggo J., Dalton A., Morrison P.J., Dodge A., Connarty M., Kotze M.J., Rubinsztein D.C. Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK. J. Med. Genet. 34:1997;982-985.
    • (1997) J. Med. Genet. , vol.34 , pp. 982-985
    • Leggo, J.1    Dalton, A.2    Morrison, P.J.3    Dodge, A.4    Connarty, M.5    Kotze, M.J.6    Rubinsztein, D.C.7
  • 3
    • 0037043031 scopus 로고    scopus 로고
    • Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: A study of 1286 Japanese patients
    • Maruyama H., Izumi Y., Morino H., Oda M., Toji H., Nakamura S., Kawakami H. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1286 Japanese patients. Am. J. Med. Genet. 114:2002;578-583.
    • (2002) Am. J. Med. Genet. , vol.114 , pp. 578-583
    • Maruyama, H.1    Izumi, Y.2    Morino, H.3    Oda, M.4    Toji, H.5    Nakamura, S.6    Kawakami, H.7
  • 4
    • 0030679611 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6, molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion
    • Matsumura R., Futamura N., Fujimoto Y., Yanagimoto S., Horikawa H., Suzumura A., Takayanagi T. Spinocerebellar ataxia type 6, molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion. Neurology. 49:1997;1238-1243.
    • (1997) Neurology , vol.49 , pp. 1238-1243
    • Matsumura, R.1    Futamura, N.2    Fujimoto, Y.3    Yanagimoto, S.4    Horikawa, H.5    Suzumura, A.6    Takayanagi, T.7
  • 5
    • 0029907590 scopus 로고    scopus 로고
    • Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene
    • Matsumura R., Takayanagi T., Murata K., Futamura N., Hirano M., Ueno S. Relationship of (CAG)nC configuration to repeat instability of the Machado-Joseph disease gene. Hum. Genet. 98:1996;643-645.
    • (1996) Hum. Genet. , vol.98 , pp. 643-645
    • Matsumura, R.1    Takayanagi, T.2    Murata, K.3    Futamura, N.4    Hirano, M.5    Ueno, S.6
  • 6
    • 0035010910 scopus 로고    scopus 로고
    • A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan
    • Mori M., Adachi Y., Kusumi M., Nakashima K. A genetic epidemiological study of spinocerebellar ataxias in Tottori prefecture, Japan. Neuroepidermiology. 20:2001;144-149.
    • (2001) Neuroepidermiology , vol.20 , pp. 144-149
    • Mori, M.1    Adachi, Y.2    Kusumi, M.3    Nakashima, K.4
  • 7
    • 0035869516 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 6: Founder effect in Western Japan
    • Mori M., Adachi Y., Kusumi M., Nakashima K. Spinocerebellar ataxia type 6: founder effect in Western Japan. J. Neurol. Sci. 185:2001;43-47.
    • (2001) J. Neurol. Sci. , vol.185 , pp. 43-47
    • Mori, M.1    Adachi, Y.2    Kusumi, M.3    Nakashima, K.4
  • 11
    • 0031007352 scopus 로고    scopus 로고
    • Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon
    • Stevanin G., Lebre A.S., Mathieux C., Cancel G., Abbas N., Didierjean O., Durr A., Trottier Y., Agid Y., Brice A. Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon. Am. J. Hum. Genet. 60:1997;1548-1552.
    • (1997) Am. J. Hum. Genet. , vol.60 , pp. 1548-1552
    • Stevanin, G.1    Lebre, A.S.2    Mathieux, C.3    Cancel, G.4    Abbas, N.5    Didierjean, O.6    Durr, A.7    Trottier, Y.8    Agid, Y.9    Brice, A.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.