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APOE genotype: No influence on galantamine treatment efficacy nor on rate of decline in Alzheimer's disease
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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Wide range in age of onset for chromosome 1-related familial Alzheimer's disease
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Describes role of APOE in wide variations in age of onset in PS2 mutation carriers
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Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: Consensus of the Consortium for Frontotemporal Lobar Degeneration
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Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice
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Describes in vivo interaction of APP and PS1
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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
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Describes mutations in progranulin as a cause of FTD
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Familial dementia caused by polymerization of mutant neuroserpin
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Describes mutations in neuroserpin as a cause of inherited dementia
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Davis, R.L.1
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12
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0033535504
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A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain
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Describes the role of the presenilins in γ-secretase activity
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De Strooper, B.1
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Farrer LA, Sherbatich T, Keryanov SA, et al. Association between angiotensin-converting enzyme and Alzheimer disease. Arch Neurol 2000;57(2):210-214. Describes ACE1 as a candidate gene for AD.
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34248513254
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Frontotemporal dementia: Recommendations for therapeutic studies, designs, and approaches
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Reviews nosology of FTD and its applications
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Reviews FTD
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APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin-nicastrin complexes
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Describes assembly of the presenilin γ-secretase complex
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8144230876
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Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members
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Describes the effect of knocking out more than one APP-like gene; suggests that this family has critical, but overlapping, activities
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Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency
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Human Prion Point Mutations. http://www.mad-cow.org/ prion_point_mutations.html. Updated November 16, 2000. Accessed September 13, 2007.
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Human Prion Point Mutations
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20
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0035947207
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Metabolic regulation of brain Abeta by neprilysin
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Shows that neprilysin is a key enzyme involved in APP and Aβ metabolism
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Iwata, N.1
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The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
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Describes cloning of APP
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Kang, J.1
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Furin mediates enhanced production of fibrillogenic ABri peptides in familial British dementia
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Describes mechanism by which familial British dementia and familial Danish dementia occur
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Kim, S.H.1
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Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia
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Describes mutations causing FTD and Paget disease
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Risk of dementia among relatives of Alzheimer's disease patients in the MIRAGE study: What is in store for the oldest old?
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Lautenschlager NT, Cupples LA, Rao VS, et al. Risk of dementia among relatives of Alzheimer's disease patients in the MIRAGE study: what is in store for the oldest old? Neurology 1996;46(3):641-650. Epidemiologic analysis suggests multiple genes cause Alzheimer disease (AD).
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Lautenschlager, N.T.1
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Rao, V.S.3
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25
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4444253260
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Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics
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Describes a new AD locus on chromosome 18
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Lee JH, Mayeux R, Mayo D, et al. Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics. Mol Psychiatry 2004;9(11):1042-1051. Describes a new AD locus on chromosome 18.
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Lee, J.H.1
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A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation
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Protein aggregation mechanisms
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Levy JR, Sumner CJ, Caviston JP, et al. A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. J Cell Biol 2006;172(5):733-745. Protein aggregation mechanisms.
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Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome
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Progranulin mutations cause corticobasal disease or FTD
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APOE modulates risk of AD
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30
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33847224449
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APOE epsilon3 gene transfer attenuates brain damage after experimental stroke
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Suggests that a principal mechanism of APOE's effect is on brain repair following diverse injuries
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McColl BW, McGregor AL, Wong A, et al. APOE epsilon3 gene transfer attenuates brain damage after experimental stroke. J Cereb Blood Flow Metab 2007;27(3):477-487. Suggests that a principal mechanism of APOE's effect is on brain repair following diverse injuries.
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33846612007
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Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
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Another gene causing FTD. Suggests FTD is a constellation of mechanistically unrelated diseases, such as Parkinson disease
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Susceptibility locus for Alzheimer's disease on chromosome 10
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Maps a new locus for AD to chromosome 10
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33749632259
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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
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Identifies a protein that accumulates in some cases of ALS and/or FTD
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Neumann, M.1
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Predictors of cognitive decline after cardiac operation
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APOE is a risk factor for poor cognitive outcome after cardiac surgery
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Newman MF, Croughwell ND, Blumenthal JA, et al. Predictors of cognitive decline after cardiac operation. Ann Thorac Surg 1995;59(5):1326- 1330. APOE is a risk factor for poor cognitive outcome after cardiac surgery.
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Newman, M.F.1
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0029666413
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The apolipoprotein E epsilon 4 allele is associated with increased neuritic plaques and cerebral amyloid angiopathy in Alzheimer's disease and in Lewy body variant
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APOE is also a risk factor for dementia with Lewy bodies
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Olichney JM, Hansen LA, Galasko D, et al. The apolipoprotein E epsilon 4 allele is associated with increased neuritic plaques and cerebral amyloid angiopathy in Alzheimer's disease and in Lewy body variant. Neurology 1996;47(1):190-196. APOE is also a risk factor for dementia with Lewy bodies.
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Olichney, J.M.1
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Pardossi-Piquard R, Petit A, Kawarai T, et al. Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP. Neuron 2005;46(4):541-554. Describes the interaction of Aβ producing and degradation pathways via the presenilin γ-secretase.
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Pardossi-Piquard R, Petit A, Kawarai T, et al. Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP. Neuron 2005;46(4):541-554. Describes the interaction of Aβ producing and degradation pathways via the presenilin γ-secretase.
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Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12
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A putative AD locus on chromosome 12
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Pericak-Vance MA, Bass MP, Yamaoka LH, et al. Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12. JAMA 1997;278(15):1237-1241. A putative AD locus on chromosome 12.
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Pericak-Vance MA, Grubber J, Bailey LR, et al. Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol 2000;35(9-10):1343-1352. A putative AD locus on chromosome 12.
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Insulin-degrading enzyme regulates extracellular levels of amyloid beta-protein by degradation
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Insulin-degrading enzyme is another putative Aβ degrading enzyme
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Epidemiological and clinical trials evidence about a preventive role for statins in Alzheimer's disease
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Reviews clinical evidence for and against the role of statins in preventing AD
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Rogaeva E, Meng Y, Lee JH, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007;39(2):168-177. Identifies SORL1 as an AD gene.
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Rogaeva E, Meng Y, Lee JH, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007;39(2):168-177. Identifies SORL1 as an AD gene.
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Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations
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Describes cost-effective protocol for screening for PS1 mutation in families with dementia
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Complex disease-associated pharmacogenetics: Drug efficacy, drug safety, and confirmation of a pathogenetic hypothesis (Alzheimer's disease)
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Reviews role of pharmacogenomics in AD
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