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Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical(More)
IMPORTANCE Hexanucleotide repeat expansions in the chromosome 9 open reading frame 72 (C9orf72) gene underlie a significant fraction of frontotemporal dementia and amyotrophic lateral sclerosis. OBJECTIVE To investigate the frequency of C9orf72 repeat expansions in clinically diagnosed late-onset Alzheimer disease (AD). DESIGN, SETTING, AND PATIENTS(More)
BACKGROUND Mutations in DNA methyltransferase 1 (DNMT1) have been identified in 2 autosomal dominant syndromes: 1) hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E); and 2) cerebellar ataxia, deafness, and narcolepsy. Both syndromes have mutations in targeting sequence (TS) domain (exons 20-21), which is important in mediating(More)
A measurement of the ratio of the branching fractions of the B(+) → K(+)μ(+)μ(-) and B(+) → K(+)e(+)e(-) decays is presented using proton-proton collision data, corresponding to an integrated luminosity of 3.0 fb(-1), recorded with the LHCb experiment at center-of-mass energies of 7 and 8 TeV. The value of the ratio of branching fractions for the dilepton(More)
OBJECTIVE Several genome-wide association studies (GWAS) have associated variants in late-onset Alzheimer disease (LOAD) susceptibility genes; however, these single nucleotide polymorphisms (SNPs) have very modest effects, suggesting that single SNP approaches may be inadequate to identify genetic risks. An alternative approach is the use of multilocus(More)
The objective of this study is to examine the association of family-centered care (FCC) with specific health care service outcomes for children with special health care needs (CSHCN). The study is a secondary analysis of the 2005-2006 National Survey of Children with Special Health Care Needs. Receipt of FCC was determined by five questions regarding how(More)
Observations of exotic structures in the J/ψp channel, which we refer to as charmonium-pentaquark states, in Λ_{b}^{0}→J/ψK^{-}p decays are presented. The data sample corresponds to an integrated luminosity of 3 fb^{-1} acquired with the LHCb detector from 7 and 8 TeV pp collisions. An amplitude analysis of the three-body final state reproduces the two-body(More)
Private well owners in Canada are responsible for maintenance, including routine sampling, of their private drinking water supply. Sampling rates in a Southern Ontario community are well below the public health recommendation. A study with private well owners was conducted to improve private well water sampling rates through the removal of two significant(More)
A search for the lepton-flavor-violating decays B(s)0→e(±)μ(∓) and B0→e(±)μ(∓) is performed with a data sample, corresponding to an integrated luminosity of 1.0 fb(-1) of pp collisions at √s=7 TeV, collected by the LHCb experiment. The observed number of B(s)0→e(±)μ(∓) and B0→e(±)μ(∓) candidates is consistent with background expectations. Upper limits on(More)
Measurement of ψ(2S) meson production in pp collisions at √ s = 7 TeV Abstract The differential cross-section for the inclusive production of ψ(2S) mesons in pp collisions at √ s = 7 TeV has been measured with the LHCb detector. The data sample corresponds to an integrated luminosity of 36 pb −1. The ψ(2S) mesons are reconstructed in the decay channels(More)