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Volumn 138, Issue 41-42, 2008, Pages 614-617

A novel heterozygous mutation in the NOTCH3 gene causing CADASIL

Author keywords

CADASIL; Mutations; NOTCH3 gene; Stroke

Indexed keywords

GADOLINIUM; HEXAMETHYLPROPYLENE AMINE OXIME TECHNETIUM TC 99M; NOTCH3 RECEPTOR;

EID: 54349119245     PISSN: 14247860     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (15)
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  • 2
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    • Monet M, Domenga V, Lemaire B, Souilhol C, Langa F, Babinet C, et al. The archetypal R90C CADASIL NOTCH3 mutation retains NOTCH3 function in vivo. Hum Mol Genet. 2007;16(8):982-92.
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  • 3
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    • Single gene disorders causing ischaemic stroke
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    • Razvi, S.S.1    Bone, I.2
  • 4
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    • Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome)
    • Arima K, Yanagawa S, Ito N, Ikeda S. Cerebral arterial pathology of CADASIL and CARASIL (Maeda syndrome). Neuropathology. 2003;23(4):327-34.
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    • Arima, K.1    Yanagawa, S.2    Ito, N.3    Ikeda, S.4
  • 5
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  • 6
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    • Federico, A.1    Bianchi, S.2    Dotti, M.T.3
  • 7
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    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Greek family
    • Mandellos D, Limbitaki G, Papadimitriou A, Anastasopoulos D. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in Greek family. Neurol Sci. 2005;26:278-81.
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  • 11
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    • Characteristics of CADASIL in Korea. A novel cysteine-sparing Notch3 mutation
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    • Kim, Y.1    Choi, E.J.2    Choi, C.G.3    Kim, G.4    Choi, J.H.5    Yoo, H.W.6
  • 12
  • 15
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    • The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.