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Volumn 3, Issue 4, 2000, Pages 227-231

A novel PS1 mutation (W165G) in a Japanese family with early-onset Alzheimer's disease

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EID: 23044523107     PISSN: 14616130     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (11)

References (19)
  • 1
    • 0029162670 scopus 로고
    • Tau in cerebrospinal fluid : A potential diagnostic marker in Alzheimer's disease
    • Aral H, Terajima M, Miura M et al. (1995). Tau in cerebrospinal fluid : a potential diagnostic marker in Alzheimer's disease. Ann Neurol 38,649-652.
    • (1995) Ann Neurol , vol.38 , pp. 649-652
    • Aral, H.1    Terajima, M.2    Miura, M.3
  • 2
    • 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. (1995). The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Gen 11,219-222.
    • (1995) Nature Gen , vol.11 , pp. 219-222
    • Clark, R.F.1    Hutton, M.2    Fuldner, R.A.3
  • 3
    • 0026088977 scopus 로고
    • Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
    • Goate A, Chartier-Hartin M-C, Mullan M et al. (1991). Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349,704-706.
    • (1991) Nature , vol.349 , pp. 704-706
    • Goate, A.1    Chartier-Hartin, M.-C.2    Mullan, M.3
  • 4
    • 0033615580 scopus 로고    scopus 로고
    • The presenilins in Alzheimer's disease - Proteolysis holds the key
    • Haass C and Strooper BD (1999). The presenilins in Alzheimer's disease - proteolysis holds the key. Science 286,916-919.
    • (1999) Science , vol.286 , pp. 916-919
    • Haass, C.1    Strooper, B.D.2
  • 5
    • 0031052381 scopus 로고    scopus 로고
    • Amyloid, the presenilins and Alzheimer's disease
    • Hardy J (1997). Amyloid, the presenilins and Alzheimer's disease. TINS20.154-159.
    • (1997) TINS , vol.20 , pp. 154-159
    • Hardy, J.1
  • 6
    • 0030825243 scopus 로고    scopus 로고
    • A novel method for making nested deletion and its application for sequencing of a 300 kb region of human APP locus
    • Hattori M, Tsukahara F, Furuhata Y et al. (1997). A novel method for making nested deletion and its application for sequencing of a 300 kb region of human APP locus. Nucleic Acid Res 25,1802-1808.
    • (1997) Nucleic Acid Res , vol.25 , pp. 1802-1808
    • Hattori, M.1    Tsukahara, F.2    Furuhata, Y.3
  • 7
    • 0028169925 scopus 로고
    • Visualization of A ;42(43) and A ;40 in senile plaques with end-specific A ; monoclonals : Evidence that an initially deposited species is A ;42(43)
    • Iwatsubo T, Odaka A, Suzuki N et al. (1994). Visualization of A ;42(43) and A ;40 in senile plaques with end-specific A ; monoclonals : evidence that an initially deposited species is A ;42(43). Neuron 13,45-53.
    • (1994) Neuron , vol.13 , pp. 45-53
    • Iwatsubo, T.1    Odaka, A.2    Suzuki, N.3
  • 8
    • 0029116848 scopus 로고
    • Facilitation of lin-72-mediated signaling by Sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene
    • Levitan D and Greenwald I (1995). Facilitation of lin-72-mediated signaling by Sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene. Nature 377,351-354.
    • (1995) Nature , vol.377 , pp. 351-354
    • Levitan, D.1    Greenwald, I.2
  • 9
    • 0029087026 scopus 로고
    • Candidate gene for the chromosome 1 familial Alzheimer's disease locus
    • Levy-Lahad E, Wasco W, Poorkaj P et al. (1995). Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269,973-977.
    • (1995) Science , vol.269 , pp. 973-977
    • Levy-Lahad, E.1    Wasco, W.2    Poorkaj, P.3
  • 10
    • 0029984784 scopus 로고    scopus 로고
    • Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene
    • Levy-Lahad E, Poorkaj P, Wang K et al. (1996). Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene. Genomics 34,198-204.
    • (1996) Genomics , vol.34 , pp. 198-204
    • Levy-Lahad, E.1    Poorkaj, P.2    Wang, K.3
  • 11
    • 0034621824 scopus 로고    scopus 로고
    • Photoactivated -secretase inhibitors directed to the active site covalently label presenilin 1
    • Li Y-M, Xu M, Lai M-T et al. (2000). Photoactivated -secretase inhibitors directed to the active site covalently label presenilin 1. Nature 405,689-694.
    • (2000) Nature , vol.405 , pp. 689-694
    • Li, Y.-M.1    Xu, M.2    Lai, M.-T.3
  • 12
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease : Report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Serviced Task Force on Alzheimer's Disease
    • McKhann G, Drachmen D, Folstein M et al. (1984). Clinical diagnosis of Alzheimer's disease : report of the NINCDS-ADRDA work group under the auspices of Department of Health and Human Serviced Task Force on Alzheimer's Disease. Neurology 34,939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachmen, D.2    Folstein, M.3
  • 13
    • 0029009543 scopus 로고
    • Japanese familial Alzheimer's disease
    • Nagano K, Katsuya T, Kamino K et al. (1994). Japanese familial Alzheimer's disease. Jpn J Geriatr32,111-121.
    • (1994) Jpn J Geriatr , vol.32 , pp. 111-121
    • Nagano, K.1    Katsuya, T.2    Kamino, K.3
  • 14
    • 0029554875 scopus 로고
    • A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene
    • Perez-Tur J, Froelich S, Prihar G et al. (1995). A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. AfewoReport?, 297-301.
    • (1995) AfewoReport? , pp. 297-301
    • Perez-Tur, J.1    Froelich, S.2    Prihar, G.3
  • 15
    • 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's disease
    • Rogaev El, Sherrington R, Wu C et al. (1997). Analysis of the 5 sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early-onset Alzheimer's disease. Genomics 40,415-424.
    • (1997) Genomics , vol.40 , pp. 415-424
    • Rogaev, E.I.1    Sherrington, R.2    Wu, C.3
  • 16
    • 0029004341 scopus 로고
    • Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
    • Sherrington R, Rogaev El, Liang Y et al. (1995). Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375,754-760.
    • (1995) Nature , vol.375 , pp. 754-760
    • Sherrington, R.1    Rogaev, E.I.2    Liang, Y.3
  • 17
    • 0033583047 scopus 로고    scopus 로고
    • The biological and pathological function of presenilin-1 Delta exon 9 mutation is independent of its defect to undergo proteolytic processing
    • Steiner H, Romig H, Grim MG et al. (1999). The biological and pathological function of presenilin-1 Delta exon 9 mutation is independent of its defect to undergo proteolytic processing. J Biol Chem 274, 7615-7618.
    • (1999) J Biol Chem , vol.274 , pp. 7615-7618
    • Steiner, H.1    Romig, H.2    Grim, M.G.3
  • 18
    • 0029914688 scopus 로고    scopus 로고
    • Apolipoprotein E and Alzheimer's disease
    • Strittmatter WJ and Roses AD (1996). Apolipoprotein E and Alzheimer's disease. Ann Rev Neurosci 19,53-77.
    • (1996) Ann Rev Neurosci , vol.19 , pp. 53-77
    • Strittmatter, W.J.1    Roses, A.D.2
  • 19
    • 0025801744 scopus 로고
    • Apolipoprotein E genotyping by one-stage PCR
    • Wenham PR, Price WH, Blundell G (1991). Apolipoprotein E genotyping by one-stage PCR. Lancet 337,1158-1159.
    • (1991) Lancet , vol.337 , pp. 1158-1159
    • Wenham, P.R.1    Price, W.H.2    Blundell, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.