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Volumn 73, Issue 6, 2009, Pages 414-415

Ataxia-telangiectasia: Without ataxia or telangiectasia?

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN;

EID: 69449091556     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181b39140     Document Type: Editorial
Times cited : (8)

References (10)
  • 1
    • 3242876404 scopus 로고    scopus 로고
    • Ataxia-telangiectasia, an evolving phenotype
    • Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair 2004;3:1187-1196.
    • (2004) DNA Repair , vol.3 , pp. 1187-1196
    • Chun, H.H.1    Gatti, R.A.2
  • 2
    • 0037472924 scopus 로고    scopus 로고
    • DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation
    • Bakkenist CJ, Kastan MB. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation. Nature 2003;412:499-506.
    • (2003) Nature , vol.412 , pp. 499-506
    • Bakkenist, C.J.1    Kastan, M.B.2
  • 4
    • 1842614985 scopus 로고    scopus 로고
    • Slow Progression of Ataxia-Telangiectasia with Double Missense and in Frame Splice Mutations
    • Dork T, Bendix-Walters R, Wegner RD, Stumm M. Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. Am J Med Genet A 2004;126A:272-277. (Pubitemid 38420639)
    • (2004) American Journal of Medical Genetics , vol.126 A , Issue.3 , pp. 272-277
    • Dork, T.1    Bendix-Waltes, R.2    Wegner, R.-D.3    Stumm, M.4
  • 6
    • 69449090994 scopus 로고    scopus 로고
    • Clinical spectrum of ataxia-telangiectasia in adulthood
    • Verhagen MMM, Abdo WF, Willemsen MAAP, et al. Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology 2009;73:430-437.
    • (2009) Neurology , vol.73 , pp. 430-437
    • Verhagen, M.M.M.1    Abdo, W.F.2    Willemsen, M.A.A.P.3
  • 8
    • 62149091065 scopus 로고    scopus 로고
    • Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes
    • Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem 2009;55:463-472.
    • (2009) Clin Chem , vol.55 , pp. 463-472
    • Nahas, S.A.1    Butch, A.W.2    Du, L.3    Gatti, R.A.4
  • 10
    • 58349092535 scopus 로고    scopus 로고
    • Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: Mutations with increased cancer risk
    • Mitui M, Nahas SA, Du LT, et al. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk. Hum Mutat 2009;30:12-21.
    • (2009) Hum Mutat , vol.30 , pp. 12-21
    • Mitui, M.1    Nahas, S.A.2    Du, L.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.