메뉴 건너뛰기




Volumn 12, Issue 2, 2008, Pages 186-189

Ophthalmic features of ataxia telangiectasia-like disorder

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; BINOCULAR CONVERGENCE; CEREBELLUM ATROPHY; CHILD; CLINICAL ARTICLE; CORNEA REFLEX; DISEASE COURSE; EYE DISEASE; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; NEUROIMAGING; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NYSTAGMUS; OPHTHALMOLOGY; PRIORITY JOURNAL; SACCADIC EYE MOVEMENT; SAUDI ARABIA; STRABISMUS; VESTIBULOOCULAR REFLEX;

EID: 41949124251     PISSN: 10918531     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaapos.2007.09.016     Document Type: Article
Times cited : (25)

References (9)
  • 1
    • 33749678963 scopus 로고    scopus 로고
    • Ataxia-telangiectasia and related diseases
    • Frappart P.O., and McKinnon P.J. Ataxia-telangiectasia and related diseases. Neuromol Med 8 (2006) 495-512
    • (2006) Neuromol Med , vol.8 , pp. 495-512
    • Frappart, P.O.1    McKinnon, P.J.2
  • 2
    • 0029057336 scopus 로고
    • A single ataxia telangiectasia gene with a product similar to PI-3 kinase
    • 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 268 (1995) 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
  • 4
    • 3242889151 scopus 로고    scopus 로고
    • Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis
    • Taylor A.M., Groom A., and Byrd P.J. Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis. DNA Repair (Amst) 3 (2004) 1219-1225
    • (2004) DNA Repair (Amst) , vol.3 , pp. 1219-1225
    • Taylor, A.M.1    Groom, A.2    Byrd, P.J.3
  • 5
    • 0033544724 scopus 로고    scopus 로고
    • The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
    • Stewart G.S., Maser R.S., Stankovic T., et al. The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. Cell 99 (1999) 577-587
    • (1999) Cell , vol.99 , pp. 577-587
    • Stewart, G.S.1    Maser, R.S.2    Stankovic, T.3
  • 6
    • 5744246254 scopus 로고    scopus 로고
    • MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
    • Delia D., Piane M., Buscemi G., et al. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder. Hum Mol Genet 13 (2004) 2155-2163
    • (2004) Hum Mol Genet , vol.13 , pp. 2155-2163
    • Delia, D.1    Piane, M.2    Buscemi, G.3
  • 7
    • 12744273401 scopus 로고    scopus 로고
    • Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder
    • Fernet M., Gribaa M., Salih M.A., et al. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 14 (2005) 307-318
    • (2005) Hum Mol Genet , vol.14 , pp. 307-318
    • Fernet, M.1    Gribaa, M.2    Salih, M.A.3
  • 8
    • 0034190618 scopus 로고    scopus 로고
    • Abnormal supranuclear eye movements in the child: A practical guide to examination and interpretation
    • Cassidy L., Taylor D., and Harris C. Abnormal supranuclear eye movements in the child: A practical guide to examination and interpretation. Surv Ophthalmol 44 (2000) 479-506
    • (2000) Surv Ophthalmol , vol.44 , pp. 479-506
    • Cassidy, L.1    Taylor, D.2    Harris, C.3
  • 9
    • 0032885176 scopus 로고    scopus 로고
    • Ocular motor abnormalities in ataxia telangiectasia
    • Lewis R.F., Lederman H.M., and Crawford T.O. Ocular motor abnormalities in ataxia telangiectasia. Ann Neurol 46 (1999) 287-295
    • (1999) Ann Neurol , vol.46 , pp. 287-295
    • Lewis, R.F.1    Lederman, H.M.2    Crawford, T.O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.