Marzia De Bortoli

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

<i>KCND3</i> is a novel susceptibility locus for early repolarization

Whole-Exome Sequencing Identifies Pathogenic Variants in <i>TJP1</i> Gene Associated With Arrhythmogenic Cardiomyopathy

Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

A founder <i>MYBPC3</i> mutation results in HCM with a high risk of sudden death after the fourth decade of life

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy

The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

Arrhythmogenic cardiomyopathy: a disease of intercalated discs

Autosomal dominant lateral temporal epilepsy (ADLTE): Novel structural and single-nucleotide LGI1 mutations in families with predominant visual auras

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy

Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

Desmin Mutations and Arrhythmogenic Right Ventricular Cardiomyopathy