메뉴 건너뛰기




Volumn 25, Issue 5, 2010, Pages 623-627

Childhood-onset cadasil: Clinical, imaging, and neurocognitive features

Author keywords

CADASIL; Leukoencephalopathy; Neurocognitive deficit; Notch3

Indexed keywords

NOTCH3 RECEPTOR;

EID: 77953096373     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073810361382     Document Type: Article
Times cited : (22)

References (14)
  • 1
    • 0036019164 scopus 로고    scopus 로고
    • Cadasil:A common form of hereditary arteriopathy causing brain infarcts and dementia
    • Kalimo H, Ruchoux MM, Viitanen M, Kalaria R. CADASIL: a common form of hereditary arteriopathy causing brain infarcts and dementia. Brain Pathol. 2002;12:371-384.
    • (2002) Brain Pathol. , vol.1 , pp. 371-384
    • Kalimo, H.1    Ruchoux, M.M.2    Viitanen, M.3    Kalaria, R.4
  • 2
    • 0029089247 scopus 로고
    • Clinical spectrum of cadasil: A study of 7 families. cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • Chabriat H, Vahedi K, Iba-Zizen M, et al. Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. Lancet. 1995;346:934-939.
    • (1995) Lancet. , vol.34 , pp. 934-939
    • Chabriat, H.1    Vahedi, K.2    Iba-Zizen, M.3
  • 3
    • 16344379266 scopus 로고    scopus 로고
    • Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): The role of mri
    • Fattapposta F, Restuccia R, Pirro C, et al. Early diagnosis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL): the role of MRI. Funct Neurol. 2004;19:239-242.
    • (2004) Funct Neurol. , vol.1 , pp. 239-242
    • Fattapposta, F.1    Restuccia, R.2    Pirro, C.3
  • 4
    • 0034027002 scopus 로고    scopus 로고
    • Distribution of cranial mri abnormalities in patients with symptomatic and subclinical cadasil
    • Coulthard A, Blank SC, Bushby K, et al. Distribution of cranial MRI abnormalities in patients with symptomatic and subclinical CADASIL. Br J Radiol. 2000;73:256-265.
    • (2000) Br J Radiol. , vol.7 , pp. 256-265
    • Coulthard, A.1    Blank, S.C.2    Bushby, K.3
  • 5
    • 1542716772 scopus 로고    scopus 로고
    • Diagnostic strategies in Cadasil
    • Oberstein S. Diagnostic strategies in CADASIL. Neurology. 2003; 60:2019-2020.
    • (2003) Neurology. , vol.6 , pp. 2019-2020
    • Oberstein, S.1
  • 6
    • 0036713510 scopus 로고    scopus 로고
    • Human non-synonymous snps: Server and survey
    • Ramensky V, Bork P, Sunvaey S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30:3894-3900.
    • (2002) Nucleic Acids Res. , vol.3 , pp. 3894-3900
    • Ramensky, V.1    Bork, P.2    Sunvaey, S.3
  • 7
    • 33750353461 scopus 로고    scopus 로고
    • Predicting the effects of amino acid substitutions on protein function
    • Ng PC, Henikoff S. Predicting the effects of amino acid substitutions on protein function. Annu Rev Genomics Hum Genet. 2006; 7:61-80.
    • (2006) Annu Rev Genomics Hum Genet. , vol.7 , pp. 61-80
    • Ng, P.C.1    Henikoff, S.2
  • 8
    • 33846527255 scopus 로고    scopus 로고
    • A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leu- koencephalopathy (CADASIL), diagnosed in the age of puberty
    • Okumura K, Tsuru T, Aizaki K, Akikusa B. A case of cerebral autosomal dominant arteriopathy with subcortical infarcts and leu- koencephalopathy (CADASIL), diagnosed in the age of puberty. No To Hattatsu. 2007;39:49-53.
    • (2007) No to Hattatsu. , vol.3 , pp. 49-53
    • Okumura, K.1    Tsuru, T.2    Aizaki, K.3    Akikusa, B.4
  • 9
    • 2942741093 scopus 로고    scopus 로고
    • Recurrent hemiplegia, normal mri, and notch3 mutation in a 14-year-old: Is this early cadasil?
    • Golomb MR, Sokol DK, Walsh LE, et al. Recurrent hemiplegia, normal MRI, and NOTCH3 mutation in a 14-year-old: is this early CADASIL? Neurology. 2004;62:2331-2332.
    • (2004) Neurology. , vol.6 , pp. 2331-2332
    • Golomb, M.R.1    Sokol, D.K.2    Walsh, L.E.3
  • 10
    • 68549121082 scopus 로고    scopus 로고
    • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male
    • Granild-Jensen J, Jensen UB, Schwartz M, Hansen US. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy resulting in stroke in an 11-year-old male. Dev Med Child Neurol. 2009;51:754-757.
    • (2009) Dev Med Child Neurol. , vol.5 , pp. 754-757
    • Granild-Jensen, J.1    Jensen, U.B.2    Schwartz, M.3    Hansen, U.S.4
  • 11
    • 0034894102 scopus 로고    scopus 로고
    • Phenotype of a homo- zygous cadasil patient in comparison to 9 age-matched heterozygous patients with the same r133c notch3 mutation
    • Tuominen S, Juvonen V, Amberla K, et al. Phenotype of a homo- zygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C notch3 mutation. Stroke. 2001;32:1767-1774.
    • (2001) Stroke. , vol.3 , pp. 1767-1774
    • Tuominen, S.1    Juvonen, V.2    Amberla, K.3
  • 13
    • 33749473075 scopus 로고    scopus 로고
    • Presymptomatic and predictive genetic testing in minors: A systematic review of guidelines and position papers
    • Borry P, Stultiens L, Nys H, et al. Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet. 2006;70:374-381.
    • (2006) Clin Genet. , vol.7 , pp. 374-381
    • Borry, P.1    Stultiens, L.2    Nys, H.3
  • 14
    • 39749195472 scopus 로고    scopus 로고
    • Attitudes regarding predictive genetic testing in minors. A survey of european clinical geneticists
    • Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding predictive genetic testing in minors. A survey of European clinical geneticists. Am J Med Genet C Semin Med Genet. 2008;148C: 78-83.
    • (2008) Am J Med Genet C Semin Med Genet. , pp. 78-83
    • Borry, P.1    Goffin, T.2    Nys, H.3    Dierickx, K.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.