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Volumn 61, Issue 7, 2003, Pages 1005-1007

PS1 Alzheimer's disease family with spastic paraplegia: The search for a gene modifier

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; PRESENILIN 1;

EID: 10744224527     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.61.7.1005     Document Type: Article
Times cited : (23)

References (10)
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  • 2
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    • Variant Alzheimer disease with spastic paraparesis: Neuropathological phenotype
    • Verkkoniemi A, Kalimo H, Paetau A, et al. Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype. J Neuropathol Exp Neurol 2001;60:483-492.
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  • 3
    • 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
    • Crook, R.1    Verkkoniemi, A.2    Perez-Tur, J.3
  • 4
    • 0034076439 scopus 로고    scopus 로고
    • Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination?
    • Hiltunen M, Helisalmi S, Mannermaa A, et al. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination? Eur J Hum Genet 2000;8:259-266.
    • (2000) Eur J Hum Genet , vol.8 , pp. 259-266
    • Hiltunen, M.1    Helisalmi, S.2    Mannermaa, A.3
  • 5
    • 0032721512 scopus 로고    scopus 로고
    • Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
    • Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet 1999;23:296-303.
    • (1999) Nat Genet , vol.23 , pp. 296-303
    • Hazan, J.1    Fonknechten, N.2    Mavel, D.3
  • 6
    • 0035184654 scopus 로고    scopus 로고
    • Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
    • Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet 2001;29:326-331.
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 7
    • 0032511186 scopus 로고    scopus 로고
    • Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
    • Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983.
    • (1998) Cell , vol.93 , pp. 973-983
    • Casari, G.1    De Fusco, M.2    Ciarmatori, S.3
  • 8
    • 0037044295 scopus 로고    scopus 로고
    • Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities
    • O'Riordan S, McMonagle P, Janssen JC, et al. Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. Neurology 2002;59:1108-1110.
    • (2002) Neurology , vol.59 , pp. 1108-1110
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  • 9
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    • Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes
    • Lippa CF, Fujiwara H, Mann DM, et al. Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes. Am J Pathol 1998;153:1365-1370.
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  • 10
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.