Associated Papers
PRKAG2 Syndrome: Clinical Features, Imaging Findings and Cardiac Events.
Sudomir M et al.
Biomedicines, 2025
Cardiomyopathy: pathogenesis and therapeutic interventions.
Huang S et al.
Medcomm, 2024
When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review.
Micaglio E et al.
International Journal of Molecular Sciences, 2024
Biomarkers and Proteomics in Sarcomeric Hypertrophic Cardiomyopathy in the Young-FGF-21 Highly Associated with Overt Disease.
Österberg AW et al.
Journal of Cardiovascular Development and Disease, 2024
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Application of CRISPR-Cas9 gene editing for congenital heart disease.
Seok H et al.
Clinical and Experimental Pediatrics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Phenotypic expression and clinical outcomes in a South Asian PRKAG2 cardiomyopathy cohort.
Ahamed H et al.
Scientific Reports, 2020
Gene therapy for inherited arrhythmias.
Bezzerides VJ et al.
Cardiovascular Research, 2020
Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.
Hu D et al.
Ebiomedicine, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.
Lu C et al.
Journal of Translational Medicine, 2018
Human γ2-AMPK Mutations.
Yavari A et al.
Methods in Molecular Biology (clifton, N.j.), 2018
Molecular Pathogenesis of Familial Wolff-Parkinson-White Syndrome.
Miyamoto L
The Journal of Medical Investigation : Jmi, 2018
A novel, de novo mutation in the PRKAG2 gene: infantile-onset phenotype and the signaling pathway involved.
Xu Y et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2017
A novel PRKAG2 mutation in a Chinese family with cardiac hypertrophy and ventricular pre-excitation.
Yang KQ et al.
Scientific Reports, 2017
High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.
Thevenon J et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2017
Genome editing with CRISPR/Cas9 in postnatal mice corrects PRKAG2 cardiac syndrome.
Xie C et al.
Cell Research, 2016
Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.
Liu Y et al.
Plos One, 2013
Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H et al.
The New England Journal of Medicine, 2008
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
Aggarwal V et al.
Annals of Pediatric Cardiology, 0