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Volumn 62, Issue 7, 2005, Pages 1091-1094

Spectrum of mutations in biopsy-proven CADASIL: Implications for diagnostic strategies

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; NOTCH3 RECEPTOR; CELL SURFACE RECEPTOR; NOTCH RECEPTOR; NOTCH3 PROTEIN, HUMAN; ONCOPROTEIN;

EID: 22844446634     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.62.7.1091     Document Type: Article
Times cited : (153)

References (14)
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    • Dichgans M, Mayer M, Uttner I, et al. The phenotypic spectrum of CADASIL: clinical findings in 102 cases. Ann Neurol. 1998;44:731-739.
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  • 2
    • 3042690581 scopus 로고    scopus 로고
    • A two-year clinical follow-up study in 80 CADASIL subjects: Progression patterns and implications for clinical trials
    • Peters N, Herzog J, Opherk C, Dichgans M. A two-year clinical follow-up study in 80 CADASIL subjects: progression patterns and implications for clinical trials. Stroke. 2004;35:1603-1608.
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  • 3
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    • 0035894640 scopus 로고    scopus 로고
    • Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis
    • Joutel A, Favrole P, Labauge P, et al. Skin biopsy immunostaining with a Notch3 monoclonal antibody for CADASIL diagnosis. Lancet. 2001;358:2049-2051.
    • (2001) Lancet , vol.358 , pp. 2049-2051
    • Joutel, A.1    Favrole, P.2    Labauge, P.3
  • 6
    • 0028113875 scopus 로고
    • Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL
    • Ruchoux MM, Chabriat H, Bousser MG, Baudrimont M, Tournier-Lasserve E. Presence of ultrastructural arterial lesions in muscle and skin vessels of patients with CADASIL. Stroke. 1994;25:2291-2292.
    • (1994) Stroke , vol.25 , pp. 2291-2292
    • Ruchoux, M.M.1    Chabriat, H.2    Bousser, M.G.3    Baudrimont, M.4    Tournier-Lasserve, E.5
  • 8
    • 0031590602 scopus 로고    scopus 로고
    • Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
    • Joutel A, Vahedi K, Corpechot C, et al. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet. 1997;350:1511-1515.
    • (1997) Lancet , vol.350 , pp. 1511-1515
    • Joutel, A.1    Vahedi, K.2    Corpechot, C.3
  • 9
  • 10
    • 0842285690 scopus 로고    scopus 로고
    • Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/Jk signaling pathway
    • Joutel A, Monet M, Domenga V, Riant F, Tournier-Lasserve E. Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/Jk signaling pathway. Am J Hum Genet. 2004;74:338-347.
    • (2004) Am J Hum Genet , vol.74 , pp. 338-347
    • Joutel, A.1    Monet, M.2    Domenga, V.3    Riant, F.4    Tournier-Lasserve, E.5
  • 11
    • 4444321722 scopus 로고    scopus 로고
    • CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk
    • Peters N, Opherk C, Zacherle S, Capell A, Gempel P, Dichgans M. CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk. Exp Cell Res. 2004;299:454-464.
    • (2004) Exp Cell Res , vol.299 , pp. 454-464
    • Peters, N.1    Opherk, C.2    Zacherle, S.3    Capell, A.4    Gempel, P.5    Dichgans, M.6
  • 12
    • 6444242560 scopus 로고    scopus 로고
    • Detection of the founder effect in Finnish CADASIL families
    • Mykkanen K, Savontaus ML, Juvonen V, et al. Detection of the founder effect in Finnish CADASIL families. Eur J Hum Genet. 2004;12:813-819.
    • (2004) Eur J Hum Genet , vol.12 , pp. 813-819
    • Mykkanen, K.1    Savontaus, M.L.2    Juvonen, V.3
  • 14
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    • A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL
    • Mazzei R, Conforti FL, Lanza PL, et al. A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. Neurology. 2004;63:561-564.
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    • Mazzei, R.1    Conforti, F.L.2    Lanza, P.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.