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Quantifying prion disease penetrance using large population control cohorts

Quantifying prion disease penetrance using large population control cohorts

http://www.wikidata.org/entity/Q36639581

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Analysis of protein-coding genetic variation in 60,706 humans New insights into the generation and role of de novo mutations in health and disease Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation."Big Data" Gets Personal.Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.The biological function of the cellular prion protein: an update Sporadic Creutzfeldt-Jakob Disease in 2 Plasma Product Recipients, United Kingdom ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research.Interaction between Prion Protein's Copper-Bound Octarepeat Domain and a Charged C-Terminal Pocket Suggests a Mechanism for N-Terminal Regulation.Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.The current state of clinical interpretation of sequence variants.Misfolding leads the way to unraveling signaling pathways in the pathophysiology of prion diseases.Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.Developing Therapeutics for PrP Prion Diseases.METHODS TO ENSURE THE REPRODUCIBILITY OF BIOMEDICAL RESEARCH.Prion protein is required for tumor necrosis factor alpha (TNFα)-triggered nuclear factor kappa B (NF-κB) signaling and cytokine production.Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes.Decoding disease-causing mechanisms of missense mutations from supramolecular structures.Towards authentic transgenic mouse models of heritable PrP prion diseases.Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.Using high-resolution variant frequencies to empower clinical genome interpretation.Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.A novel prion protein variant in a patient with semantic dementia.The Rotterdam Study: 2018 update on objectives, design and main results.Food functionality research as a new national project in special reference to improvement of cognitive and locomotive abilities.Estimation of minimal disease prevalence from population genomic data: Application to primary familial brain calcification.First case of V180I rare mutation in a Brazilian patient with Creutzfeldt-Jakob disease.An in vivo 11C-PK PET study of microglia activation in Fatal Familial Insomnia.Translational medicine in the Age of Big Data.Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.Comprehensive and Methodical: Diagnostic and Management Approaches to Rapidly Progressive Dementia.Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases.

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Quantifying prion disease penetrance using large population control cohorts

http://www.wikidata.org/entity/Q36639581

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2016 nî lūn-bûn

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2016 թվականի հունվարին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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name

Quantifying prion disease penetrance using large population control cohorts

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Quantifying prion disease penetrance using large population control cohorts

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Quantifying prion disease penetrance using large population control cohorts

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SCITRANSLMED.AAD5169

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Science Translational Medicine

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Quantifying prion disease penetrance using large population control cohorts

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Alison Boyd

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Anna Kähler

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Anna Ladogana

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Anna Poleggi

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Annemieke Rozemuller

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Armin Giese

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Casper Jansen

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Claudia Ponto

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Daniel G MacArthur

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Elodie Bouaziz-Amar

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P2860

Novel mutation of the PRNP gene of a clinical CJD case

Hardy, Weinberg and language impediments

Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice

Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering

Analysis of protein-coding genetic variation in 60,706 humans

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

Mice devoid of PrP are resistant to scrapie

The prion's elusive reason for being

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10.1126/SCITRANSLMED.AAD5169

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322

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Cornelia M. van Duijn

André Uitterlinden

Mark Joseph Daly

Sven J van der Lee

Konrad J. Karczewski

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2016-01-01T00:00:00Z

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291392758

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26791950

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Prion protein family

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4774245

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