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Volumn 59, Issue 7, 2002, Pages 1108-1110

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities

Author keywords

[No Author keywords available]

Indexed keywords

PRESENILIN 1;

EID: 0037044295     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.59.7.1108     Document Type: Article
Times cited : (68)

References (10)
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  • 2
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    • Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations
    • Houlden H, Baker M, McGowan E, et al. Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-β concentrations. Ann Neurol 2000;48:806-808.
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  • 3
    • 0029115555 scopus 로고
    • The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
    • Clark RF, Hutton M, Fuldner RA, et al. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nat Genet 1995;11:219-222.
    • (1995) Nat Genet , vol.11 , pp. 219-222
    • Clark, R.F.1    Hutton, M.2    Fuldner, R.A.3
  • 4
    • 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, Martinez 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    Martinez, A.3
  • 6
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    • Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred
    • Lampe TH, Bird TD, Nochlin D, et al. Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. Ann Neurol 1994;36:368-378.
    • (1994) Ann Neurol , vol.36 , pp. 368-378
    • Lampe, T.H.1    Bird, T.D.2    Nochlin, D.3
  • 7
    • 8244260610 scopus 로고    scopus 로고
    • Two novel (M233T and R278T) presenilin 1 mutations in early onset Alzheimer's disease and preliminary evidence for association of presenilin 1 mutations with a novel phenotype
    • Kwok JB, Taddei K, Hallupp M, et al. Two novel (M233T and R278T) presenilin 1 mutations in early onset Alzheimer's disease and preliminary evidence for association of presenilin 1 mutations with a novel phenotype. Neuroreport 1997;8:1537-1542.
    • (1997) Neuroreport , vol.8 , pp. 1537-1542
    • Kwok, J.B.1    Taddei, K.2    Hallupp, M.3
  • 8
    • 0031949628 scopus 로고    scopus 로고
    • A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1
    • Crook R, Verkkoniemi A, Perez-Tur J, et al. A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. Nat Med 1998;4:452-455.
    • (1998) Nat Med , vol.4 , pp. 452-455
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  • 9
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    • White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer's disease
    • Scheltens PH, Barkhof F, Valk J, et al. White matter lesions on magnetic resonance imaging in clinically diagnosed Alzheimer's disease. Brain 1992;115:735-748.
    • (1992) Brain , vol.115 , pp. 735-748
    • Scheltens, P.H.1    Barkhof, F.2    Valk, J.3
  • 10
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    • A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI
    • Aoki M, Abe K, Oda N, et al. A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI. Neurology 1997;48:1118-1120.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.