메뉴 건너뛰기




Volumn 53, Issue 6, 1998, Pages 469-473

Presenilin 1 Met146Leu variant due to an A→T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina

Author keywords

Familial early onset Alzheimer's disease; Met146Leu substitution; Presenilin 1 mutations

Indexed keywords

AMYLOID PRECURSOR PROTEIN; LEUCINE; METHIONINE; PRESENILIN 1;

EID: 0031820213     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb02597.x     Document Type: Article
Times cited : (24)

References (21)
  • 1
    • 0021207461 scopus 로고
    • Alzheimer's disease and Down's syndrome: Sharing of unique cerebrovascular amyloid fibril protein
    • Glenner GG, Wong CW. Alzheimer's disease and Down's syndrome: sharing of unique cerebrovascular amyloid fibril protein. Biochem Biophys Research Commun 1984: 122 (3): 1131-1135.
    • (1984) Biochem Biophys Research Commun , vol.122 , Issue.3 , pp. 1131-1135
    • Glenner, G.G.1    Wong, C.W.2
  • 7
    • 0029813255 scopus 로고    scopus 로고
    • The presenilin genes: A new gene family involved in Alzheimer's disease pathology
    • Cruts M, Hendriks L, Van Broeckhoven C. The presenilin genes: a new gene family involved in Alzheimer's disease pathology. Human Mol Genet 1996: 5: 1449-1455.
    • (1996) Human Mol Genet , vol.5 , pp. 1449-1455
    • Cruts, M.1    Hendriks, L.2    Van Broeckhoven, C.3
  • 10
    • 0021271971 scopus 로고
    • Clinical diagnosis of Alzheimer's disease: Report of the NINCDS-ADRDA work group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease
    • McKhann G, Drachman D, Folstein M et al. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA work group under the auspices of the Department of Health and Human Services Task Force on Alzheimer's disease. Neurology 1984: 34: 939-944.
    • (1984) Neurology , vol.34 , pp. 939-944
    • McKhann, G.1    Drachman, D.2    Folstein, M.3
  • 11
    • 0017148259 scopus 로고
    • A general method for isolation of high molecular weight DNA from eukaryotes
    • Blin N, Stafford DW. A general method for isolation of high molecular weight DNA from eukaryotes. Nucleic Acid Res 1976: 3: 2303-2308.
    • (1976) Nucleic Acid Res , vol.3 , pp. 2303-2308
    • Blin, N.1    Stafford, D.W.2
  • 12
    • 0025801744 scopus 로고
    • Apolipoprotein E genotyping by one stage PCR
    • Wenham PR, Price WH, Blundall G. Apolipoprotein E genotyping by one stage PCR. Lancet 1991: 337: 11-12.
    • (1991) Lancet , vol.337 , pp. 11-12
    • Wenham, P.R.1    Price, W.H.2    Blundall, G.3
  • 14
    • 0030474298 scopus 로고    scopus 로고
    • Familial Alzheimer's disease co-segregate with a Met146Ile substitution in presenilin-1
    • Jorgensen P, Bus C, Pallisgaard N, Bryder M, Jorgensen AL. Familial Alzheimer's disease co-segregate with a Met146Ile substitution in presenilin-1. Clin Genet 1996: 50: 281-286.
    • (1996) Clin Genet , vol.50 , pp. 281-286
    • Jorgensen, P.1    Bus, C.2    Pallisgaard, N.3    Bryder, M.4    Jorgensen, A.L.5
  • 15
    • 0029411573 scopus 로고    scopus 로고
    • Presenilins and Alzheimer's disease
    • Van Broeckhoven C. Presenilins and Alzheimer's disease. Nat Genet 1996: 11: 230-232.
    • (1996) Nat Genet , vol.11 , pp. 230-232
    • Van Broeckhoven, C.1
  • 18
    • 0029115555 scopus 로고
    • The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early-onset AD families
    • Alzheimer's Disease Collaborative Group. 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
  • 19
    • 0031052381 scopus 로고    scopus 로고
    • Amyloid, the presenilins and Alzheimer's disease
    • Hardy J. Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci 1997: 20 (4): 154-158.
    • (1997) Trends Neurosci , vol.20 , Issue.4 , pp. 154-158
    • Hardy, J.1
  • 21
    • 0030944258 scopus 로고    scopus 로고
    • Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor
    • Fox NC, Kennedy AM, Harvey RJ, Lantos PL, Roques PK, Collinge J, Hardy J, Hutton M, Stevens JM, Warrington EK, Rossor MN. Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. Brain 1997: 120: 491-501.
    • (1997) Brain , vol.120 , pp. 491-501
    • Fox, N.C.1    Kennedy, A.M.2    Harvey, R.J.3    Lantos, P.L.4    Roques, P.K.5    Collinge, J.6    Hardy, J.7    Hutton, M.8    Stevens, J.M.9    Warrington, E.K.10    Rossor, M.N.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.