Associated Papers
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification.
O'Neill MJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Song Y et al.
Frontiers in Cardiovascular Medicine, 2022
Functional testing for variant prioritization in a family with long QT syndrome.
Najari Beidokhti M et al.
Molecular Genetics and Genomics : Mgg, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Utility of Zebrafish Models of Acquired and Inherited Long QT Syndrome.
Simpson KE et al.
Frontiers in Physiology, 2020
Modifier genes for sudden cardiac death.
Schwartz PJ et al.
European Heart Journal, 2018
Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.
Tester DJ et al.
Journal of the American College of Cardiology, 2018
Influence of genetic modifiers on sudden cardiac death cases.
Jenewein T et al.
International Journal of Legal Medicine, 2018
Genetic modulators of the phenotype in the long QT syndrome: state of the art and clinical impact.
Napolitano C et al.
Current Opinion in Genetics & Development, 2015
Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.
Zhang KP et al.
Acta Pharmacologica Sinica, 2014
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
Long QT syndrome: beyond the causal mutation.
Amin AS et al.
The Journal of Physiology, 2013
Sequence and structure-specific elements of HERG mRNA determine channel synthesis and trafficking efficiency.
Sroubek J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013
An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.
Jou CJ et al.
Circulation Research, 2013
Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.
Giudicessi JR et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2013
Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.
Crotti L et al.
Journal of the American College of Cardiology, 2012
Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant.
Crotti L et al.
Heart Rhythm, 2012
KvSNP: accurately predicting the effect of genetic variants in voltage-gated potassium channels.
Stead LF et al.
Bioinformatics (oxford, England), 2011
Pleiotropic mutations in ion channels: what lies behind them?
Crotti L
Heart Rhythm, 2011
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Tan BY et al.
Journal of Cardiovascular Translational Research, 2010
Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy.
Sen-Chowdhry S et al.
Circulation. Cardiovascular Genetics, 2010
Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.
Männikkö R et al.
British Journal of Pharmacology, 2010
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.
Nishio Y et al.
Journal of the American College of Cardiology, 2009
Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.
Zhang X et al.
Bmc Medical Genetics, 2008
Cellular properties of C-terminal KCNH2 long QT syndrome mutations: description and divergence from clinical phenotypes.
Biliczki P et al.
Heart Rhythm, 2008
Importance of Knowing the Genotype and the Specific Mutation When Managing Patients with Long QT Syndrome.
Moss AJ et al.
Circulation. Arrhythmia and Electrophysiology, 2008
Congenital long QT syndrome.
Crotti L et al.
Orphanet Journal of Rare Diseases, 2008
The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?
Scicluna BP et al.
Journal of Cardiovascular Electrophysiology, 2008
[New insights into the long-QT syndrome].
Rossenbacker T et al.
Revista Espanola De Cardiologia, 2007
Genetic polymorphisms and arrhythmia susceptibility.
Makita N et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
Millat G et al.
Clinical Genetics, 2006
The congenital long QT syndromes from genotype to phenotype: clinical implications.
Schwartz PJ
Journal of Internal Medicine, 2006
KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome.
Crotti L et al.
Circulation, 2005