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Volumn 57, Issue 4, 2001, Pages 621-625

Screening for PS1 mutations in a referral-based series of AD cases: 21 Novel mutations

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

EID: 0035964209     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.4.621     Document Type: Article
Times cited : (195)

References (26)
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    • Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease
    • (1996) Lancet , vol.347 , pp. 509-512
    • Wragg, M.1    Hutton, M.2    Talbot, C.3
  • 11
    • 0031569390 scopus 로고    scopus 로고
    • Analysis of the 5′ sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease
    • (1997) Genomics , vol.40 , pp. 415-424
    • Rogaev, E.I.1    Sherrington, R.2    Wu, C.3
  • 19
    • 0034595640 scopus 로고    scopus 로고
    • The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced abeta 42 production mediated by familial early onset Alzheimer's disease-linked PS variants
    • (2000) Biol Chem , vol.275 , pp. 17136-17142
    • Saura, C.A.1    Tomita, T.2    Soriano, S.3
  • 20
    • 0033583047 scopus 로고    scopus 로고
    • The biological and pathological function of the presenilin-1 exon 9 mutation is independent of its defect to undergo proteolytic processing
    • (1999) J Biol Chem , vol.274 , pp. 7615-7618
    • Steiner, H.1    Romig, H.2    Grim, M.G.3
  • 22
    • 0033762710 scopus 로고    scopus 로고
    • Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations
    • (2000) Ann Neurol , vol.48 , pp. 806-808
    • Houlden, H.1    Baker, M.2    McGowan, E.3
  • 23
    • 8244260610 scopus 로고    scopus 로고
    • Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype
    • (1997) Neuroreport , vol.8 , pp. 1537-1542
    • Kwok, J.B.1    Taddei, K.2    Hallupp, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.