메뉴 건너뛰기




Volumn 228, Issue 2, 2005, Pages 125-128

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Author keywords

CADASIL; Cerebral infarction; Notch3; Vascular dementia

Indexed keywords

ARGININE; CYSTEINE; NOTCH3 RECEPTOR;

EID: 13444304264     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.10.019     Document Type: Article
Times cited : (21)

References (20)
  • 3
    • 0033843087 scopus 로고    scopus 로고
    • Genetics and ischaemic stroke
    • A. Hassan, and H.S. Markus Genetics and ischaemic stroke Brain 123 2000 1784 1812
    • (2000) Brain , vol.123 , pp. 1784-1812
    • Hassan, A.1    Markus, H.S.2
  • 4
    • 0026664380 scopus 로고
    • A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy
    • J.L. Mas, A. Dilouya, and J. de Recondo A familial disorder with subcortical ischemic strokes, dementia, and leukoencephalopathy Neurology 42 1992 1015 1019
    • (1992) Neurology , vol.42 , pp. 1015-1019
    • Mas, J.L.1    Dilouya, A.2    De Recondo, J.3
  • 5
    • 16044362074 scopus 로고    scopus 로고
    • Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia
    • A. Joutel, C. Corpechot, A. Ducros, K. Vahedi, H. Chabriat, and P. Mouton Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature 383 1996 707 710
    • (1996) Nature , vol.383 , pp. 707-710
    • Joutel, A.1    Corpechot, C.2    Ducros, A.3    Vahedi, K.4    Chabriat, H.5    Mouton, P.6
  • 6
    • 0027479304 scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12
    • E. Tournier-Lasserve, A. Joutel, J. Melki, J. Weissenbach, G.M. Lathrop, and H. Chabriat Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy maps to chromosome 19q12 Nat. Genet. 3 1993 256 259
    • (1993) Nat. Genet. , vol.3 , pp. 256-259
    • Tournier-Lasserve, E.1    Joutel, A.2    Melki, J.3    Weissenbach, J.4    Lathrop, G.M.5    Chabriat, H.6
  • 8
    • 1542716772 scopus 로고    scopus 로고
    • Diagnostic strategies in CADASIL
    • S.A.J. Lesnik Oberstein Diagnostic strategies in CADASIL Neurology 60 2003 2019 2020
    • (2003) Neurology , vol.60 , pp. 2019-2020
    • Lesnik Oberstein, S.A.J.1
  • 9
    • 0036447730 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan
    • M. Uchino, T. Hirano, E. Uyama, and Y. Hashimoto Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan Ann. N.Y. Acad. Sci. 977 2002 273 278
    • (2002) Ann. N.Y. Acad. Sci. , vol.977 , pp. 273-278
    • Uchino, M.1    Hirano, T.2    Uyama, E.3    Hashimoto, Y.4
  • 11
    • 0037317752 scopus 로고    scopus 로고
    • Mutation of the Notch3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family
    • N. Suwanwela, A. Srikiatkhachorn, S. Tangwongchai, K. Phanthumchina, and N. Suwanwela Mutation of the Notch3 gene in a Thai cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy family J. Med. Assoc. Thai. 86 2003 178 182
    • (2003) J. Med. Assoc. Thai. , vol.86 , pp. 178-182
    • Suwanwela, N.1    Srikiatkhachorn, A.2    Tangwongchai, S.3    Phanthumchina, K.4    Suwanwela, N.5
  • 12
    • 0036393522 scopus 로고    scopus 로고
    • CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor
    • A. Utku, Y. Celik, O. Uyguner, M. Yuksel-Apak, and B. Wollnik CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor Eur. J. Neurol. 9 2002 23 28
    • (2002) Eur. J. Neurol. , vol.9 , pp. 23-28
    • Utku, A.1    Celik, Y.2    Uyguner, O.3    Yuksel-Apak, M.4    Wollnik, B.5
  • 13
    • 0038278343 scopus 로고    scopus 로고
    • Genetic, clinical and pathological studies of CADASIL in Japan: A partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis
    • Y. Santa, E. Uyama, H. Chui de, M. Arima, S. Kotorii, and K. Takahashi Genetic, clinical and pathological studies of CADASIL in Japan: a partial contribution of Notch3 mutations and implications of smooth muscle cell degeneration for the pathogenesis J. Neurol. Sci. 15 2003 79 84
    • (2003) J. Neurol. Sci. , vol.15 , pp. 79-84
    • Santa, Y.1    Uyama, E.2    De C., H.3    Arima, M.4    Kotorii, S.5    Takahashi, K.6
  • 16
    • 0016823810 scopus 로고
    • Mini mental state. A practical method for grading the cognitive state of patients for clinician
    • M.F. Folsteine, S.E. Folstein, and P.R. McHugh Mini mental state. A practical method for grading the cognitive state of patients for clinician J. Psychiatr. Res. 12 1975 189 198
    • (1975) J. Psychiatr. Res. , vol.12 , pp. 189-198
    • Folsteine, M.F.1    Folstein, S.E.2    McHugh, P.R.3
  • 18
    • 0032781960 scopus 로고    scopus 로고
    • Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL
    • M. Mayer, A. Straube, R. Bruening, I. Uttner, D. Pongratz, and T. Gasser Muscle and skin biopsies are a sensitive diagnostic tool in the diagnosis of CADASIL J. Neurol. 246 1999 526 532
    • (1999) J. Neurol. , vol.246 , pp. 526-532
    • Mayer, M.1    Straube, A.2    Bruening, R.3    Uttner, I.4    Pongratz, D.5    Gasser, T.6
  • 19
    • 0035845708 scopus 로고    scopus 로고
    • Increased prevalence of vascular dementia in Japan: A community-based epidemiological study
    • M. Ikeda, K. Hokoishi, N. Maki, A. Nebu, N. Tachibana, and K. Komori Increased prevalence of vascular dementia in Japan: a community-based epidemiological study Neurology 57 2001 839 844
    • (2001) Neurology , vol.57 , pp. 839-844
    • Ikeda, M.1    Hokoishi, K.2    Maki, N.3    Nebu, A.4    Tachibana, N.5    Komori, K.6
  • 20
    • 0036449718 scopus 로고    scopus 로고
    • Vascular dementia in Japan
    • T. Yanagihara Vascular dementia in Japan Ann. N.Y. Acad. Sci. 977 2002 24 28
    • (2002) Ann. N.Y. Acad. Sci. , vol.977 , pp. 24-28
    • Yanagihara, T.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.