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Pedagogisk retorik : En inbjudan till den muntliga relationens vetenskap

Alla relationsberoende yrkesroller – läkare, lärare med flera – vilar på en gemensam idé: att kunna övertyga andra till att tänka och handla i linje med den aktuella professionens särskilda ansvar och mål. Professionellt handlar färdigheten om att förstå vad uttryck och ord gör med och mot oss när vi människor väljer att lyssna och bli delaktiga i någons yrkeskunnande – eller inte. Pedagogisk reto

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Background: Epidemiological studies that examined the association between Parkinson's disease (PD) and cancers led to inconsistent results, but they face a number of methodological difficulties. Objective: We used results from genome-wide association studies (GWASs) to study the genetic correlation between PD and different cancers to identify common genetic risk factors. Methods: We used individua

Embracing Monogenic Parkinson's Disease : The MJFF Global Genetic PD Cohort

Background: As gene-targeted therapies are increasingly being developed for Parkinson's disease (PD), identifying and characterizing carriers of specific genetic pathogenic variants is imperative. Only a small fraction of the estimated number of subjects with monogenic PD worldwide are currently represented in the literature and availability of clinical data and clinical trial-ready cohorts is lim

Large-scale assessment of polyglutamine repeat expansions in Parkinson disease

OBJECTIVES: We aim to clarify the pathogenic role of intermediate size repeat expansions of SCA2, SCA3, SCA6, and SCA17 as risk factors for idiopathic Parkinson disease (PD).METHODS: We invited researchers from the Genetic Epidemiology of Parkinson's Disease Consortium to participate in the study. There were 12,346 cases and 8,164 controls genotyped, for a total of 4 repeats within the SCA2, SCA3,

Replication of a Novel Parkinson's Locus in a European Ancestry Population

BACKGROUND: A recently published East Asian genome-wide association study of Parkinson;s disease (PD) reported 2 novel risk loci, SV2C and WBSCR17.OBJECTIVES: The objective of this study were to determine whether recently reported novel SV2C and WBSCR17 loci contribute to the risk of developing PD in European and East Asian ancestry populations.METHODS: We report an association analysis of recentl

Whole exome sequencing of familial, combined or complex dystonia

Background: To determine the usefulness of whole exome sequencing(WES) in the diagnostic evaluation of patients and small families withfamilial, combined and/or complex forms of dystonia identified from anadult neurology clinic at a tertiary center, and to set up a computationalpathway for the bioinformatics analyses.Methods: By mail, we contacted all 347 patients from our department whoduring a 4