De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic Cardiomyopathy: Etiology, Diagnosis, and Treatment

(2010) Srijita Sen-Chowdhry et al.   Annual Review of Medicine

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy

(2010) Marzia De Bortoli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

(2010) Ellen Otten et al.   HEART RHYTHM

Compound and Digenic Heterozygosity Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy

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

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

(2010) Luis Vernengo et al.   NEUROMUSCULAR DISORDERS

Missense Variants in Plakophilin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy Patients – Disease-Causing or Innocent Bystanders?

(2009) Alex Hørby Christensen et al.   CARDIOLOGY

Desmoglein-2 and Desmocollin-2 Mutations in Dutch Arrhythmogenic Right Ventricular Dysplasia/Cardiomypathy Patients

(2009) Zahurul A. Bhuiyan et al.   Circulation-Cardiovascular Genetics

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare “disease of the desmosome” with multiple clinical presentations

(2009) Thomas Herren et al.   Clinical Research in Cardiology

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

(2009) J. Peter van Tintelen et al.   HEART RHYTHM

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

Vimentin Coil 1A—A Molecular Switch Involved in the Initiation of Filament Elongation

(2009) Markus Meier et al.   JOURNAL OF MOLECULAR BIOLOGY

Disease mutations in the “head” domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties

(2009) Sarika Sharma et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

(2008) Nancy D. Merner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

(2008) M.A. Simpson et al.   CARDIOLOGY

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy

(2008) Maximilian G. Posch et al.   MOLECULAR GENETICS AND METABOLISM

Variations in DSG2: V56M, V158G and V920G are not pathogenic for arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Maximilian G Posch et al.   Nature clinical practice. Cardiovascular medicine

Molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Hendrik Milting et al.   Nature clinical practice. Cardiovascular medicine

Mechanisms of Disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2008) Mark M Awad et al.   Nature clinical practice. Cardiovascular medicine