Protein expression studies of desmoplakin mutations in cardiomyopathy patients reveal different molecular disease mechanisms

Intercalated disc abnormalities, reduced Na+ current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes

(2012) Stefania Rizzo et al.   CARDIOVASCULAR RESEARCH

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

(2011) P. Garcia-Pavia et al.   HEART

Prophylactic Implantable Defibrillator in Patients With Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia and No Prior Ventricular Fibrillation or Sustained Ventricular Tachycardia

(2010) Domenico Corrado et al.   CIRCULATION

The Cardiac Desmosome and Arrhythmogenic Cardiomyopathies

(2010) Mario Delmar et al.   CIRCULATION RESEARCH

Prevalence of Desmosomal Protein Gene Mutations in Patients With Dilated Cardiomyopathy

(2010) Perry Elliott et al.   Circulation-Cardiovascular Genetics

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

(2010) Tianhong Xu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy

(2009) L. Carrier et al.   CARDIOVASCULAR RESEARCH

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) Barbara Bauce et al.   HEART RHYTHM

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2009) Paul A. van der Zwaag et al.   HUMAN MUTATION

Desmosomes at a glance

(2009) Bhushan V. Desai et al.   JOURNAL OF CELL SCIENCE

A New Diagnostic Test for Arrhythmogenic Right Ventricular Cardiomyopathy

(2009) Angeliki Asimaki et al.   NEW ENGLAND JOURNAL OF MEDICINE

Plakophilin 2: a critical scaffold for PKCα that regulates intercellular junction assembly

(2008) Amanda E. Bass-Zubek et al.   JOURNAL OF CELL BIOLOGY

Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)

(2008) J. Hansen et al.   NEUROSCIENCE