메뉴 건너뛰기




Volumn 60, Issue 12, 2001, Pages 1137-1152

Ectopic white matter neurons, a developmental abnormality that may be caused by the PSEN1 S169L mutation in a case of familial AD with myoclonus and seizures

Author keywords

Alzheimer disease; Amyloid beta protein; Epilepsy; Myoclonus; Neuronal migration; Presenilin mutation; Tau protein

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1;

EID: 0035208657     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnen/60.12.1137     Document Type: Article
Times cited : (54)

References (63)
  • 13
    • 0033776069 scopus 로고    scopus 로고
    • Novel presenilin 1 mutations associated with early onset of dementia in a family with both earlyonset and late-onset Alzheimer disease
    • (2000) Arch Neurol , vol.57 , pp. 1454-1457
    • Devi, G.1    Fotiou, A.2    Jyrinji, D.3
  • 21
    • 0025908356 scopus 로고
    • The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease
    • (1991) Neurology , vol.41 , pp. 479-486
    • Mirra, S.S.1    Heyman, A.2    McKeel, D.3
  • 22
    • 0030681215 scopus 로고    scopus 로고
    • Consensus recommendations for the postmortem diagnosis of Alzheimer's disease
    • (1997) Neurobiol Aging , Issue.4 SUPPL.
  • 25
    • 0024349528 scopus 로고
    • Monoclonal antibodies to a synthetic peptide homologous with the first 28 amino acids of Alzheimer's disease beta-protein recognize amyloid and diverse glial and neuronal cell types in the central nervous system
    • (1989) Am J Pathol , vol.134 , pp. 973-978
    • Stern, R.A.1    Otvos, L.2    Trojanowski, J.Q.3    Lee, V.M.4
  • 36
    • 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
  • 42
  • 48
    • 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
  • 52
    • 0027451535 scopus 로고
    • Burst suppression and impairment of neocortical ontogenesis: Electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy
    • (1993) Epilepsia , vol.34 , pp. 800-808
    • Spreafico, R.1    Angelini, L.2    Binelli, S.3
  • 54
  • 55
    • 0033966452 scopus 로고    scopus 로고
    • Notch and presenilins in vertebrates and invertebrates: Implications for neuronal development and degeneration
    • (2000) Curr Opin Neurobiol , vol.10 , pp. 50-57
    • Selkoe, D.J.1
  • 56
    • 0033152441 scopus 로고    scopus 로고
    • Presenilins, processing of beta-amyloid precursor protein, and notch signaling
    • (1999) Neuron , vol.23 , pp. 201-204
    • Chan, Y.M.1    Jan, Y.N.2
  • 63
    • 0033588991 scopus 로고    scopus 로고
    • Apoptotic activities of wild-type and Alzheimer's disease-related mutant presenilins in Drosophila melanogaster
    • (1999) J Cell Biol , vol.146 , pp. 1351-1364
    • Ye, Y.1    Fortini, M.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.