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Volumn 51, Issue 8, 2006, Pages 645-651

Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype

Author keywords

Chorea; Movement disorder; Neuroferritinopathy; Transcription factors; Triplet repeats

Indexed keywords


EID: 77952878970     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0001-9     Document Type: Article
Times cited : (26)

References (30)
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    • Andrew SE, Goldberg YP, Theilmann J, Zeisler J, Hayden MR (1994b) A CCG repeat polymorphism adjacent to the CAG repeat in the Huntington disease gene: implications for diagnostic accuracy and predictive testing. Hum Mol Genet 3:65-67 (Pubitemid 2035009)
    • (1994) Human Molecular Genetics , vol.3 , Issue.1 , pp. 65-67
    • Andrew, S.E.1    Goldberg, Y.P.2    Theilmann, J.3    Zeisler, J.4    Hayden, M.R.5
  • 3
    • 0028964340 scopus 로고
    • Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16
    • Atanasoski S, Toldo SS, Malipiero U, Schreiber E, Fries R, Fontana A (1995) Isolation of the human genomic brain-2/N-Oct 3 gene (POUF3) and assignment to chromosome 6q16. Genomics 26:272-280
    • (1995) Genomics , vol.26 , pp. 272-280
    • Atanasoski, S.1    Toldo, S.S.2    Malipiero, U.3    Schreiber, E.4    Fries, R.5    Fontana, A.6
  • 11
    • 0033911804 scopus 로고    scopus 로고
    • Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3
    • DOI 10.1086/302744
    • Kambouris M, Bohlega S, Al-Tahan A, Meyer BF (2000) Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet 66:445-452 (Pubitemid 30468822)
    • (2000) American Journal of Human Genetics , vol.66 , Issue.2 , pp. 445-452
    • Kambouris, M.1    Bohlega, S.2    Al-Tahan, A.3    Meyer, B.F.4
  • 13
    • 0032885515 scopus 로고    scopus 로고
    • A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
    • Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S (1999) A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8:2047-2053
    • (1999) Hum Mol Genet , vol.8 , pp. 2047-2053
    • Koide, R.1    Kobayashi, S.2    Shimohata, T.3    Ikeuchi, T.4    Maruyama, M.5    Saito, M.6    Yamada, M.7    Takahashi, H.8    Tsuji, S.9
  • 27
    • 0031971718 scopus 로고    scopus 로고
    • Laboratory guidelines for Huntington Disease genetic testing
    • The American College of Medical Genetics, American Society of Human Genetics, Huntington Disease Genetic Testing Working Group
    • The American College of Medical Genetics, American Society of Human Genetics, Huntington Disease Genetic Testing Working Group (1998) Laboratory guidelines for Huntington Disease genetic testing. Am J Hum Genet 62:1243-1247
    • (1998) Am J Hum Genet , vol.62 , pp. 1243-1247


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.