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Volumn 60, Issue 1, 1996, Pages 78-81

Neuropathological diagnosis and CAG repeat expansion in Huntington's disease

Author keywords

Brain pathology; CAG repeat; Huntington's disease

Indexed keywords

PHENOTHIAZINE; REPETITIVE DNA;

EID: 0030052018     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.60.1.78     Document Type: Article
Times cited : (27)

References (8)
  • 1
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993;72:971-83.
    • (1993) Cell , vol.72 , pp. 971-983
  • 2
    • 0343098805 scopus 로고
    • A study comparing mutation triplet repeat size and phenotypes in patients with Huntington's disease
    • Neal JW, Fenton I, Macmillan JC, et al. A study comparing mutation triplet repeat size and phenotypes in patients with Huntington's disease. Neurodegeneration 1994;3: 73-7.
    • (1994) Neurodegeneration , vol.3 , pp. 73-77
    • Neal, J.W.1    Fenton, I.2    Macmillan, J.C.3
  • 4
    • 0027261537 scopus 로고
    • Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
    • Snell R, MacMillan JC, Cheadle JP, et al. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 1993;4:393-7.
    • (1993) Nature Genetics , vol.4 , pp. 393-397
    • Snell, R.1    MacMillan, J.C.2    Cheadle, J.P.3
  • 5
    • 0028339385 scopus 로고
    • Somatic and gonadal mosaicism of the Huntington disease gene repeat in brain and sperm
    • Telenius H, Kremer B, Goldberg YP, et al. Somatic and gonadal mosaicism of the Huntington disease gene repeat in brain and sperm. Nature Genetics 1994;6:409-14.
    • (1994) Nature Genetics , vol.6 , pp. 409-414
    • Telenius, H.1    Kremer, B.2    Goldberg, Y.P.3
  • 6
    • 0027363951 scopus 로고
    • Gametic but not somatic instability of CAG repeat length in Huntington's disease
    • McDonald ME, Barnes G, Srinidhi J, et al. Gametic but not somatic instability of CAG repeat length in Huntington's disease. J Med Genetics 1993;30:982-6.
    • (1993) J Med Genetics , vol.30 , pp. 982-986
    • McDonald, M.E.1    Barnes, G.2    Srinidhi, J.3
  • 7
    • 0022408984 scopus 로고
    • Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea
    • Upadhyaya M, Reynolds GP, Harper PS. Recombinant DNA studies on stored necropsy brain samples from patients with Huntington's chorea. J Clin Pathol 1985; 38:1093-5.
    • (1985) J Clin Pathol , vol.38 , pp. 1093-1095
    • Upadhyaya, M.1    Reynolds, G.P.2    Harper, P.S.3
  • 8
    • 23444451921 scopus 로고
    • Huntington's disease without CAG expansion: Phenocopies or errors in assignment?
    • Andrew SE, Goldberg YP, Kremer B, et al. Huntington's disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet 1994;54:852-63.
    • (1994) Am J Hum Genet , vol.54 , pp. 852-863
    • Andrew, S.E.1    Goldberg, Y.P.2    Kremer, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.