Associated Papers
A Novel Homozygous Mutation of the Desmoplakin Gene With Biventricular Arrhythmogenic Cardiomyopathy.
Giannoni A et al.
Jacc. Case Reports, 2025
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 2024
Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure.
Christensen AH et al.
Journal of Medical Genetics, 2022
Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.
Mohammed F et al.
International Journal of Molecular Sciences, 2022
Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.
Grondin S et al.
American Journal of Medical Genetics. Part A, 2020
Structure of the Intermediate Filament-Binding Region of Desmoplakin.
Kang H et al.
Plos One, 2016
Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.
Christensen AH et al.
Journal of Medical Genetics, 2010
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