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Journal of Korean medical science : JKMS, v.23 no.2 = no.121, 2008년, pp.213 - 217
Park, Hyun-Kyung (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) , Na, Duk Lyul (Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) , Lee, Jae-Hong (Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.) , Kim, Jong-Won (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.) , Ki, Chang-Seok (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.)
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Although mutations in three genes, amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2), have been identified as genetic causes of early-onset Alzheimer's disease (EOAD), there has been a single report on a PSEN1 mutation in Koreans. In the present study, we performed a ge...
1 Cruts M van Duijn CM Backhovens H Van den Broeck M Wehnert A Serneels S Sherrington R Hutton M Hardy J St George-Hyslop PH Hofman A Van Broeckhoven C Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease Hum Mol Genet 1998 7 43 51 9384602
2 Finckh U Muller-Thomsen T Mann U Eggers C Marksteiner J Meins W Binetti G Alberici A Hock C Nitsch RM Gal A High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes Am J Hum Genet 2000 66 110 117 10631141
3 Goate A Chartier-Harlin MC Mullan M Brown J Crawford F Fidani L Giuffra L Haynes A Irving N James L Mant R Newton P Rooke K Roques P Talbot C Pericak-Vance M Roses A Williamson R Rossor M Owen M Hardy J Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease Nature 1991 349 704 706 1671712
4 Sherrington R Rogaev EI Liang Y Rogaeva EA Levesque G Ikeda M Chi H Lin C Li G Holman K Tsuda T Mar L Foncin JF Bruni AC Montesi MP Sorbi S Rainero I Pinessi L Nee L Chumakov I Pollen D Brookes A Sanseau P Polinsky RJ Wasco W Da Silva HAR Haines JL Pericak-Vance MA Tanzi RE Roses AD Fraser PE Rommens JM St George-Hyslop PH Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Nature 1995 375 754 760 7596406
5 Rogaev EI Sherrington R Rogaeva EA Levesque G Ikeda M Liang Y Chi H Lin C Holman K Tsuda T Mar L Sorbi S Nacmias B Placentini S Amaducci L Chumakov I Cohen D Lannfelt L Fraser PE Rommens JM St George-Hyslop PH Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene Nature 1995 376 775 778 7651536
6 Levy-Lahad E Wasco W Poorkaj P Romano DM Oshima J Pettingell WH Yu CE Jondro PD Schmidt SD Wang K Crowley AC Fu YH Guenette SY Galas D Nemens E Wijsman EM Bird TD Schellenberg GD Tanzi RE Candidate gene for the chromosome 1 familial Alzheimer's disease locus Science 1995 269 973 977 7638622
7 Corder EH Saunders AM Strittmatter WJ Schmechel DE Gaskell PC Small GW Roses AD Haines JL Pericak-Vance MA Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families Science 1993 261 921 923 8346443
8 Saunders AM Strittmatter WJ Schmechel D George-Hyslop PH Pericak-Vance MA Joo SH Rosi BL Gusella JF Crapper-MacLachlan DR Alberts MJ Hulette C Crain B Goldgaber D Roses AD Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease Neurology 1993 43 1467 1472 8350998
9 van Duijn CM de Knijff P Cruts M Wehnert A Havekes LM Hofman A Van Broeckhoven C Apolipoprotein E4 allele in a population-based study of early-onset Alzheimer's disease Nat Genet 1994 7 74 78 8075646
10 Campion D Dumanchin C Hannequin D Dubois B Belliard S Puel M Thomas-Anterion C Michon A Martin C Charbonnier F Raux G Camuzat A Penet C Mesnage V Martinez M Clerget-Darpoux F Brice A Frebourg T Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum Am J Hum Genet 1999 65 664 670 10441572
11 Lao JI Beyer K Fernandez-Novoa L Cacabelos R A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease Neurogenetics 1998 1 293 296 10732806
12 Esler WP Wolfe MS A portrait of Alzheimer secretases--new features and familiar faces Science 2001 293 1449 1454 11520976
13 Scheuner D Eckman C Jensen M Song X Citron M Suzuki N Bird TD Hardy J Hutton M Kukull W Larson E Levy-Lahad E Viitanen M Peskind E Poorkaj P Schellenberg G Tanzi R Wasco W Lannfelt L Selkoe D Younkin S Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease Nat Med 1996 2 864 870 8705854
14 Ancolio K Dumanchin C Barelli H Warter JM Brice A Campion D Frebourg T Checler F Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease. Proc Natl Acad Sci USA 1999 96 4119 4124 10097173
15 Hong KS Kim SP Na DL Kim JG Suh YL Kim SE Kim JW Clinical and genetic analysis of a pedigree of a thirty-six-year-old familial Alzheimer's disease patient Biol Psychiatry 1997 42 1172 1176 9426887
16 McKhann G Drachman D Folstein M Katzman R Price D Stadlan EM Clinical diagnosis of Alzheimer's disease: report of the NINCDSADRDA Work Group under the auspices of department of health and human services task force on Alzheimer's disease Neurology 1984 34 939 944 6610841
17 Raux G Guyant-Marechal L Martin C Bou J Penet C Brice A Hannequin D Frebourg T Campion D Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update J Med Genet 2005 42 793 795 16033913
18 Rogaeva EA Fafel KC Song YQ Medeiros H Sato C Liang Y Richard E Rogaev EI Frommelt P Sadovnick AD Meschino W Rockwood K Boss MA Mayeux R St George-Hyslop P Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations Neurology 2001 57 621 625 11524469
19 Kwok JB Taddei K Hallupp M Fisher C Brooks WS Broe GA Hardy J Fulham MJ Nicholson GA Stell R St George Hyslop PH Fraser PE Kakulas B Clarnette R Relkin N Gandy SE Schofield PR Martins RN Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype Neuroreport 1997 8 1537 1542 9172170
20 Kang SY Lee WI Apolipoprotein E polymorphism in ischemic stroke patients with different pathogenetic origins Korean J Lab Med 2006 26 210 216 18156727
21 Kim JH Lim HS Kwon OH Polymorphisms of apolipoprotein B and apolipoprotein E in hypobetalipoproteinemic Korean Korean J Lab Med 2002 22 388 394
22 Ki CS Na DL Kim HJ Kim JW Alpha-1 antichymotrypsin and alpha-2 macroglobulin gene polymorphisms are not associated with Korean late-onset Alzheimer's disease Neurosci Lett 2001 302 69 72 11290389
23 Shin MH Kim HN Cui LH Kweon SS Park KS Heo H Nam HS Jeong SK Chung EK Choi JS The effect of apolipoprotein E polymorphism on lipid levels in Korean adults J Korean Med Sci 2005 20 361 366 15953853
24 Janssen JC Beck JA Campbell TA Dickinson A Fox NC Harvey RJ Houlden H Rossor MN Collinge J Early onset familial Alzheimer's disease: Mutation frequency in 31 families Neurology 2003 60 235 239 12552037
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