메뉴 건너뛰기




Volumn 57, Issue 12, 2012, Pages 807-808

Pentanucleotide repeat-primed PCR for genetic diagnosis of spinocerebellar ataxia type 31

Author keywords

genetic testing; repeat primed PCR; spinocerebellar ataxia type 31

Indexed keywords

DNA FRAGMENT; NUCLEOTIDE DERIVATIVE; PENTANUCLEOTIDE; UNCLASSIFIED DRUG;

EID: 84871499779     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.112     Document Type: Article
Times cited : (12)

References (6)
  • 1
    • 71849083831 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n
    • Sato, N., Amino, T., Kobayashi, K., Asakawa, S., Ishiguro, T., Tsunemi, T. et al. Spinocerebellar ataxia type 31 is associated with 'inserted' penta-nucleotide repeats containing (TGGAA)n. Am. J. Hum. Genet. 85, 544-557 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 544-557
    • Sato, N.1    Amino, T.2    Kobayashi, K.3    Asakawa, S.4    Ishiguro, T.5    Tsunemi, T.6
  • 2
    • 78650043023 scopus 로고    scopus 로고
    • Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan
    • Sakai, H., Yoshida, K., Shimizu, Y., Morita, H., Ikeda, S. & Matsumoto, N. Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan. Neurogenetics 11, 409-415 (2010).
    • (2010) Neurogenetics , vol.11 , pp. 409-415
    • Sakai, H.1    Yoshida, K.2    Shimizu, Y.3    Morita, H.4    Ikeda, S.5    Matsumoto, N.6
  • 3
    • 0030462492 scopus 로고    scopus 로고
    • A general method for the detection of large CAG repeat expansions by fluorescent PCR
    • Warner, J. P., Barron, L. H., Goudie, D., Kelly, K., Dow, D., Fitzpatrick, D. R. et al. A general method for the detection of large CAG repeat expansions by fluorescent PCR. J. Med. Genet. 33, 1022-1026 (1996).
    • (1996) J. Med. Genet. , vol.33 , pp. 1022-1026
    • Warner, J.P.1    Barron, L.H.2    Goudie, D.3    Kelly, K.4    Dow, D.5    Fitzpatrick, D.R.6
  • 4
    • 2342633210 scopus 로고    scopus 로고
    • Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
    • Cagnoli, C., Michielotto, C., Matsuura, T., Ashizawa, T., Margolis, R. L., Holmes, S. E. et al. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J. Mol. Diagn. 6, 96-100 (2004).
    • (2004) J. Mol. Diagn. , vol.6 , pp. 96-100
    • Cagnoli, C.1    Michielotto, C.2    Matsuura, T.3    Ashizawa, T.4    Margolis, R.L.5    Holmes, S.E.6
  • 5
    • 32944454491 scopus 로고    scopus 로고
    • Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay
    • Cagnoli, C., Stevanin, G., Michielotto, C., Gerbino Promis, G., Brussino, A., Pappi, P. et al. Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay. J. Mol. Diagn. 8, 128-132 (2006).
    • (2006) J. Mol. Diagn. , vol.8 , pp. 128-132
    • Cagnoli, C.1    Stevanin, G.2    Michielotto, C.3    Gerbino Promis, G.4    Brussino, A.5    Pappi, P.6
  • 6
    • 34249075682 scopus 로고    scopus 로고
    • Clinical and genetic characterizations of 16q-linked autosomal dominant spinocer-ebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population
    • Nozaki, H., Ikeuchi, T., Kawakami, A., Kimura, A., Koide, R., Tsuchiya, M. et al. Clinical and genetic characterizations of 16q-linked autosomal dominant spinocer-ebellar ataxia (AD-SCA) and frequency analysis of AD-SCA in the Japanese population. Mov. Disord 22, 857-862 (2007).
    • (2007) Mov. Disord , vol.22 , pp. 857-862
    • Nozaki, H.1    Ikeuchi, T.2    Kawakami, A.3    Kimura, A.4    Koide, R.5    Tsuchiya, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.