Associated Papers
Caveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.
Santoro F et al.
Journal of Cardiovascular Electrophysiology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.
Blandin CE et al.
Cells, 2021
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies.
Pradhan BS et al.
International Journal of Molecular Sciences, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Cardiac channelopathies: The role of sodium channel mutations.
Fonseca DJ et al.
Revista Portuguesa De Cardiologia, 2018
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.
Magi S et al.
Journal of Biomedical Science, 2017
Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.
Rezazadeh S et al.
The Canadian Journal of Cardiology, 2017
Protein assemblies of sodium and inward rectifier potassium channels control cardiac excitability and arrhythmogenesis.
Willis BC et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2015
Diseases caused by mutations in Nav1.5 interacting proteins.
Kyle JW et al.
Cardiac Electrophysiology Clinics, 2014
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
To be or not to be: long-QT syndrome type 9.
Cutler MJ et al.
Circulation. Cardiovascular Genetics, 2013
Channelopathies from mutations in the cardiac sodium channel protein complex.
Adsit GS et al.
Journal of Molecular and Cellular Cardiology, 2013
Cardiac ion channelopathies and the sudden infant death syndrome.
Wilders R
Isrn Cardiology, 2012
Cardiac ion channel mutations in the sudden infant death syndrome.
Klaver EC et al.
International Journal of Cardiology, 2011
Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.
Wilde AA et al.
Circulation Research, 2011
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.
Catteruccia M et al.
Neuromuscular Disorders : Nmd, 2009
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
Cronk LB et al.
Heart Rhythm, 2007
Sudden infant death syndrome and long QT syndrome: the zealots versus the naysayers.
Border WL et al.
Heart Rhythm, 2007