Associated Papers
Desmoplakin CSM models unravel mechanisms regulating the binding to intermediate filaments and putative therapeutics for cardiocutaneous diseases.
Badowski C et al.
Scientific Reports, 2024
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
Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy.
Marey I et al.
Open Medicine (warsaw, Poland), 2020
Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy.
Favre B et al.
Circulation. Genomic and Precision Medicine, 2018
Plakophilin 2A is the dominant isoform in human heart tissue: consequences for the genetic screening of arrhythmogenic right ventricular cardiomyopathy.
Gandjbakhch E et al.
Heart (british Cardiac Society), 2011
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