SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs

(2013) Changsung Kim et al.   NATURE

Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency

(2012) Marina Cerrone et al.   CARDIOVASCULAR RESEARCH

The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy

(2012) Stefania Rizzo et al.   CELL AND TISSUE RESEARCH

Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study

(2012) John Gomes et al.   EUROPEAN HEART JOURNAL

Remodeling of the cardiac sodium channel, connexin43, and plakoglobin at the intercalated disk in patients with arrhythmogenic cardiomyopathy

(2012) Maartje Noorman et al.   HEART RHYTHM

Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes

(2011) Matthew Taylor et al.   CIRCULATION

Compound and Digenic Heterozygosity in Desmosome Genes as a Cause of Arrhythmogenic Right Ventricular Cardiomyopathy in Japanese Patients

(2011) Tadashi Nakajima et al.   CIRCULATION JOURNAL

Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy

(2011) AH Christensen et al.   CLINICAL GENETICS

Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy

(2011) Giovanni Quarta et al.   EUROPEAN HEART JOURNAL

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations

(2010) Katja Gehmlich et al.   CARDIOVASCULAR RESEARCH

Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

(2010) Frank I. Marcus et al.   CIRCULATION

Genome-wide association identifies a deletion in the 3′ untranslated region of Striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy

(2010) Kathryn M. Meurs et al.   HUMAN GENETICS

Loss of Plakophilin-2 Expression Leads to Decreased Sodium Current and Slower Conduction Velocity in Cultured Cardiac Myocytes

(2009) Priscila Y. Sato et al.   CIRCULATION RESEARCH

ARVC-Related Mutations in Divergent Region 3 Alter Functional Properties of the Cardiac Ryanodine Receptor

(2008) Andrea Koop et al.   BIOPHYSICAL JOURNAL

Molecular and Clinical Characterization of a Novel SCN5A Mutation Associated With Atrioventricular Block and Dilated Cardiomyopathy

(2008) Junbo Ge et al.   Circulation-Arrhythmia and Electrophysiology

Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation

(2008) D. Erkapic et al.   EUROPACE