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Volumn 65, Issue 3, 2013, Pages 235-246

Personal genomics for Alzheimer's disease

Author keywords

Alzheimer's disease; Copy number variations; Next generation sequencer; Rare variants; Whole genome sequence

Indexed keywords

AMYLOID PRECURSOR PROTEIN; APOLIPOPROTEIN; PRESENILIN 1; PRESENILIN 2;

EID: 84875868918     PISSN: 18816096     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (27)
  • 1
    • 0000293742 scopus 로고
    • Über eine eigenartige Erkrankung der Hirnrinde
    • Alzheimer A: Über eine eigenartige Erkrankung der Hirnrinde. Allg Z Psychiat Med 64: 146-148, 1907
    • (1907) Allg Z Psychiat Med , vol.64 , pp. 146-148
    • Alzheimer, A.1
  • 3
    • 84875846205 scopus 로고    scopus 로고
    • Japanese source
  • 6
    • 84856541277 scopus 로고    scopus 로고
    • Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families
    • Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, et al: Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One 7: e31039, 2012
    • (2012) PLoS One , vol.7
    • Cruchaga, C.1    Haller, G.2    Chakraverty, S.3    Mayo, K.4    Vallania, F.L.5
  • 7
    • 84868030363 scopus 로고    scopus 로고
    • Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort
    • Jin SC, Pastor P, Cooper B, Cervantes S, Benitez BA, et al: Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort. Alzheimers Res Ther 4: 34, 2012
    • (2012) Alzheimers Res Ther , vol.4 , pp. 34
    • Jin, S.C.1    Pastor, P.2    Cooper, B.3    Cervantes, S.4    Benitez, B.A.5
  • 8
    • 84863081896 scopus 로고    scopus 로고
    • The role of variation at AßPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease
    • Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, et al: The role of variation at AßPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis 28: 377-387, 2012
    • (2012) J Alzheimers Dis , vol.28 , pp. 377-387
    • Gerrish, A.1    Russo, G.2    Richards, A.3    Moskvina, V.4    Ivanov, D.5
  • 12
    • 64549083246 scopus 로고    scopus 로고
    • Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese
    • Takei N, Miyashita A, Tsukie T, Arai H, Asada T, et al: Genetic association study on in and around the APOE in late-onset Alzheimer disease in Japanese. Genomics 93: 441-448, 2009
    • (2009) Genomics , vol.93 , pp. 441-448
    • Takei, N.1    Miyashita, A.2    Tsukie, T.3    Arai, H.4    Asada, T.5
  • 17
    • 69449108391 scopus 로고    scopus 로고
    • Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease
    • Kasuga K, Shimohata T, Nishimura A, Shiga A, Mizuguchi T, et al: Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease. J Neurol Neurosurg Psychiatry 80: 1050-1052, 2009
    • (2009) J Neurol Neurosurg Psychiatry , vol.80 , pp. 1050-1052
    • Kasuga, K.1    Shimohata, T.2    Nishimura, A.3    Shiga, A.4    Mizuguchi, T.5
  • 18
    • 84860764162 scopus 로고    scopus 로고
    • Role of common and rare APP DNA sequence variants in Alzheimer disease
    • Hooli BV, Mohapatra G, Mattheisen M, Parrado AR, Roehr JT, et al: Role of common and rare APP DNA sequence variants in Alzheimer disease. Neurology 78: 1250-1257, 2012
    • (2012) Neurology , vol.78 , pp. 1250-1257
    • Hooli, B.V.1    Mohapatra, G.2    Mattheisen, M.3    Parrado, A.R.4    Roehr, J.T.5
  • 19
    • 80055045412 scopus 로고    scopus 로고
    • Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
    • Thonberg H, Fallström M, Björkström J, Schoumans J, Nennesmo I, et al: Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient. BMC Res Notes 4: 476, 2011
    • (2011) BMC Res Notes , vol.4 , pp. 476
    • Thonberg, H.1    Fallström, M.2    Björkström, J.3    Schoumans, J.4    Nennesmo, I.5
  • 20
    • 82755161904 scopus 로고    scopus 로고
    • Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
    • McNaughton D, Knight W, Guerreiro R, Ryan N, Lowe J, et al: Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiol Aging 33: 426e13-426e21, 2012
    • (2012) Neurobiol Aging , vol.33
    • McNaughton, D.1    Knight, W.2    Guerreiro, R.3    Ryan, N.4    Lowe, J.5
  • 21
    • 84861202762 scopus 로고    scopus 로고
    • A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease
    • Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, et al: A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet 20: 613-617, 2012
    • (2012) Eur J Hum Genet , vol.20 , pp. 613-617
    • Rovelet-Lecrux, A.1    Legallic, S.2    Wallon, D.3    Flaman, J.M.4    Martinaud, O.5
  • 23
    • 84864471159 scopus 로고    scopus 로고
    • A mutation in APP protects against Alzheimer's disease and age-related cognitive decline
    • Jonsson T, Atwal JK, Steinberg S, Snaedal J, Jonsson PV, et al: A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature 488: 96-99, 2012
    • (2012) Nature , vol.488 , pp. 96-99
    • Jonsson, T.1    Atwal, J.K.2    Steinberg, S.3    Snaedal, J.4    Jonsson, P.V.5
  • 24
    • 62449330486 scopus 로고    scopus 로고
    • A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis
    • Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, et al: A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis. Science 323: 1473-1477, 2009
    • (2009) Science , vol.323 , pp. 1473-1477
    • Di Fede, G.1    Catania, M.2    Morbin, M.3    Rossi, G.4    Suardi, S.5
  • 25
    • 78651100067 scopus 로고    scopus 로고
    • Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features
    • Giaccone G, Morbin M, Moda F, Botta M, Mazzoleni G, et al: Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features. Acta Neuropathol 120: 803-812, 2010
    • (2010) Acta Neuropathol , vol.120 , pp. 803-812
    • Giaccone, G.1    Morbin, M.2    Moda, F.3    Botta, M.4    Mazzoleni, G.5
  • 26
    • 84866368227 scopus 로고    scopus 로고
    • High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
    • Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, et al: High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 17: 875-879, 2012
    • (2012) Mol Psychiatry , vol.17 , pp. 875-879
    • Pottier, C.1    Hannequin, D.2    Coutant, S.3    Rovelet-Lecrux, A.4    Wallon, D.5
  • 27
    • 84875865440 scopus 로고    scopus 로고
    • Exorne sequencing of extended late-onset Alzheimer's disease families identifies a variant in the TTC3 gene (abstract of poster presentation).
    • Züchner S, Kohli M, Naj A, Hamilton K, Rajbhandary R, et al: Exorne sequencing of extended late-onset Alzheimer's disease families identifies a variant in the TTC3 gene (abstract of poster presentation). Alzheimers Dement 8(Suppl): 679(P4-136), 2012
    • (2012) Alzheimers Dement , vol.8 , Issue.SUPPL.
    • Züchner, S.1    Kohli, M.2    Naj, A.3    Hamilton, K.4    Rajbhandary, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.