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Volumn 136, Issue 1-2, 1996, Pages 101-107

Analysis of CAG trinucleotide expansion associated with Machado-Joseph disease

Author keywords

Anticipation; CAG repeat; Machado Joseph disease; Somatic mosaicism; Sperm; Spinocerebellar ataxia type 1

Indexed keywords

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA BASE COMPOSITION; FEMALE; HUMAN; HUMAN CELL; MACHADO JOSEPH DISEASE; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPERM;

EID: 0029969662     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(95)00307-N     Document Type: Article
Times cited : (32)

References (17)
  • 4
    • 0029035710 scopus 로고
    • Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1
    • Chong, S.S., McCall, A.E., Cota, J., Subramony, S.-H., Orr, H.T., Hughes, M.R. and Zoghbi, H.Y. (1995) Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet., 10: 344-350.
    • (1995) Nature Genet. , vol.10 , pp. 344-350
    • Chong, S.S.1    McCall, A.E.2    Cota, J.3    Subramony, S.-H.4    Orr, H.T.5    Hughes, M.R.6    Zoghbi, H.Y.7
  • 5
    • 0027495515 scopus 로고
    • Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
    • Chung, M., Ranum, L.P.W., Duvick, L.A., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet., 5: 254-258.
    • (1993) Nature Genet. , vol.5 , pp. 254-258
    • Chung, M.1    Ranum, L.P.W.2    Duvick, L.A.3    Servadio, A.4    Zoghbi, H.Y.5    Orr, H.T.6
  • 6
    • 0017871680 scopus 로고
    • Autosomal dominant system degeneration in Portuguese families of the Azores Islands: A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions
    • Coutinho, P. and Andrade, C. (1978) Autosomal dominant system degeneration in Portuguese families of the Azores Islands: a new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions. Neurology, 28: 703-709.
    • (1978) Neurology , vol.28 , pp. 703-709
    • Coutinho, P.1    Andrade, C.2
  • 8
    • 0001172320 scopus 로고
    • Autosomal dominant spinocerebellar ataxia: Clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred
    • Gardner, K., Alderson, K., Galster, B., Kaplan, C., Leppert, M. and Ptacek, L. (1994) Autosomal dominant spinocerebellar ataxia: clinical description of a distinct hereditary ataxia and genetic localization to chromosome 16 (SCA4) in a Utah kindred (abstract). Neurology, 44 (suppl. 2): 921S.
    • (1994) Neurology , vol.44 , Issue.2 SUPPL.
    • Gardner, K.1    Alderson, K.2    Galster, B.3    Kaplan, C.4    Leppert, M.5    Ptacek, L.6
  • 10
    • 0018938538 scopus 로고
    • Presumably Azorean disease in a presumably non-Portuguese family
    • Healton, E.B., Brust, J.C.M., Kerr, D.L., Resor, S. and Penn, A. (1980) Presumably Azorean disease in a presumably non-Portuguese family. Neurology, 30: 1084-1089.
    • (1980) Neurology , vol.30 , pp. 1084-1089
    • Healton, E.B.1    Brust, J.C.M.2    Kerr, D.L.3    Resor, S.4    Penn, A.5
  • 15
    • 0025800526 scopus 로고
    • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352: 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 17
    • 0018872672 scopus 로고
    • Clinical criteria for diagnosis of Machado-Joseph disease: Report of a non-Azorean Portuguese family
    • Lima, L. and Coutinho, P. (1980) Clinical criteria for diagnosis of Machado-Joseph disease: report of a non-Azorean Portuguese family. Neurology, 30: 319-22.
    • (1980) Neurology , vol.30 , pp. 319-322
    • Lima, L.1    Coutinho, P.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.