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Volumn 19, Issue 12, 2013, Pages 1173-1174

Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia

Author keywords

Ataxia telangiectasia; Dystonia; Myoclonic head jerks

Indexed keywords

ALPHA FETOPROTEIN; ATM PROTEIN;

EID: 84889101448     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2013.08.013     Document Type: Letter
Times cited : (25)

References (5)
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    • Savitsky K., Bar-Shira A., Gilad S., Rotman G., Ziv Y., Vanagaite L., et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase. Science 1995, 268:1749-1753.
    • (1995) Science , vol.268 , pp. 1749-1753
    • Savitsky, K.1    Bar-Shira, A.2    Gilad, S.3    Rotman, G.4    Ziv, Y.5    Vanagaite, L.6
  • 3
    • 84863267494 scopus 로고    scopus 로고
    • Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites
    • Saunders-Pullman R., Raymond D., Stoessl A.J., Hobson D., Nakamura T., Pullman S., et al. Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. Neurology 2012, 78(9):649-657.
    • (2012) Neurology , vol.78 , Issue.9 , pp. 649-657
    • Saunders-Pullman, R.1    Raymond, D.2    Stoessl, A.J.3    Hobson, D.4    Nakamura, T.5    Pullman, S.6
  • 4
    • 84857062467 scopus 로고    scopus 로고
    • Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study
    • 561-57
    • Verhagen M.M., Last J.I., Hogervorst F.B., Smeets D.F., Roeleveld N., Verheijen F., et al. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Hum Mutat 2012, 33. 561-57.
    • (2012) Hum Mutat , vol.33
    • Verhagen, M.M.1    Last, J.I.2    Hogervorst, F.B.3    Smeets, D.F.4    Roeleveld, N.5    Verheijen, F.6
  • 5
    • 80051591336 scopus 로고    scopus 로고
    • Lymphoid tumours and breast cancers in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours
    • Reiman A., Srinivasan V., Barone G., Last J.I., Wootton L., Davies E.G., et al. Lymphoid tumours and breast cancers in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. Br J Cancer 2011, 105:586-591.
    • (2011) Br J Cancer , vol.105 , pp. 586-591
    • Reiman, A.1    Srinivasan, V.2    Barone, G.3    Last, J.I.4    Wootton, L.5    Davies, E.G.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.