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1 - 10 of 10 results found for PRKAG2. Did you mean: prag

  1. Clinical characteristics and natural history of PRKAG2 syndrome

    http://iris.ucl.ac.uk/iris/publication/1851937/3

  2. Prevalence and clinical characteristics of mutations in the gene for AMP kinase (PRKAG2)...

    http://iris.ucl.ac.uk/iris/publication/1169457/3

  3. Mutations in PRKAG2 cause Wolf Parkinson White and hypertrophic cardiomyopathy

    http://iris.ucl.ac.uk/iris/publication/1169857/3

  4. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking...

    Mutations in PRKAG2, the gene for the γ2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction

    http://iris.ucl.ac.uk/iris/publication/1512459/7

  5. Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

    © 2020 American College of Cardiology Foundation Background: PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the

    http://iris.ucl.ac.uk/iris/publication/1795366/1

  6. Identification, clinical manifestation and structural mechanisms of mutations in AMPK...

    © 2020 The Authors Background: Although 21 causative mutations have been associated with PRKAG2 syndrome, our understanding of the syndrome remains incomplete. The aim of this project is to further investigate its unique genetic background,

    http://iris.ucl.ac.uk/iris/publication/1776276/1

  7. Gene variants at loci related to blood pressure account for variation in response to...

    © 2019 Lippincott Williams and Wilkins. All rights reserved. Selection of antihypertensive treatment according to self-defined ethnicity is recommended by some guidelines but might be better guided by individual genotype rather than ethnicity or

    http://iris.ucl.ac.uk/iris/publication/1720546/1

  8. Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple...

    Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ∼50,000 SNPs in up to

    http://iris.ucl.ac.uk/iris/publication/960308/7

  9. Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple...

    Blood pressure (BP) is a heritable risk factor for cardiovascular disease. To investigate genetic associations with systolic BP (SBP), diastolic BP (DBP), mean arterial pressure (MAP), and pulse pressure (PP), we genotyped ∼50,000 SNPs in up to

    http://iris.ucl.ac.uk/iris/publication/931529/7

  10. Genome-wide association analyses identify 18 new loci associated with serum urate...

    Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28

    http://iris.ucl.ac.uk/iris/publication/840574/2

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