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Volumn 84, Issue 2, 2014, Pages 206-208

Homozygosity of the autosomal dominant alzheimer disease presenilin 1 E280A mutation

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN; PRESENILIN 1; PSEN1 PROTEIN, HUMAN;

EID: 84925941618     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/wnl.0000000000001130     Document Type: Note
Times cited : (15)

References (7)
  • 1
    • 8044226013 scopus 로고    scopus 로고
    • Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation
    • Lopera F, Ardilla A, Martínez A, et al. Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation. JAMA 1997;277: 793-799.
    • (1997) JAMA , vol.277 , pp. 793-799
    • Lopera, F.1    Ardilla, A.2    Martínez, A.3
  • 2
    • 84908223294 scopus 로고    scopus 로고
    • Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease
    • Lalli MA, Cox HC, Arcila ML, et al. Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease. Alzheimers Dement 2014;10(5 suppl):S277-S283.
    • (2014) Alzheimers Dement , vol.10 , Issue.5 , pp. S277-S283
    • Lalli, M.A.1    Cox, H.C.2    Arcila, M.L.3
  • 3
    • 80055034288 scopus 로고    scopus 로고
    • Alzheimer's prevention initiative: A plan to accelerate the evaluation of presymptomatic treatments
    • Reiman EM, Langbaum JB, Fleisher AS, et al. Alzheimer's prevention initiative: A plan to accelerate the evaluation of presymptomatic treatments. J Alzheimers Dis 2011;26 (suppl 3):321-329.
    • (2011) J Alzheimers Dis , vol.26 , pp. 321-329
    • Reiman, E.M.1    Langbaum, J.B.2    Fleisher, A.S.3
  • 4
    • 0031026470 scopus 로고    scopus 로고
    • Dominance and homozygosity
    • Zlotogora J. Dominance and homozygosity. Am J Med Genet 1997;68:412-416.
    • (1997) Am J Med Genet , vol.68 , pp. 412-416
    • Zlotogora, J.1
  • 5
    • 84903539808 scopus 로고    scopus 로고
    • The Alzheimer's prevention initiative composite cognitive test score: Sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 E280A mutation carriers
    • Ayutyanont N, Langbaum JB, Hendrix SB, et al. The Alzheimer's prevention initiative composite cognitive test score: sample size estimates for the evaluation of preclinical Alzheimer's disease treatments in presenilin 1 E280A mutation carriers. J Clin Psychiatry 2014;75:652-660.
    • (2014) J Clin Psychiatry , vol.75 , pp. 652-660
    • Ayutyanont, N.1    Langbaum, J.B.2    Hendrix, S.B.3
  • 6
    • 79951726286 scopus 로고    scopus 로고
    • Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: A retrospective cohort study
    • Acosta-Baena N, Sepulveda-Falla D, Lopera-Gomez CM, et al. Pre-dementia clinical stages in presenilin 1 E280A familial early-onset Alzheimer's disease: A retrospective cohort study. Lancet Neurol 2011;10:213-220.
    • (2011) Lancet Neurol , vol.10 , pp. 213-220
    • Acosta-Baena, N.1    Sepulveda-Falla, D.2    Lopera-Gomez, C.M.3
  • 7
    • 33947201115 scopus 로고    scopus 로고
    • Loss-of-function presenilin mutations in Alzheimer disease: Talking point on the role of presenilin mutations in Alzheimer disease
    • De Strooper B. Loss-of-function presenilin mutations in Alzheimer disease: Talking point on the role of presenilin mutations in Alzheimer disease. EMBO Rep 2007;8: 141-146.
    • (2007) EMBO Rep , vol.8 , pp. 141-146
    • De Strooper, B.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.