Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Is Cardiac Transplantation Still a Contraindication in Patients with Muscular Dystrophy-Related End-Stage Dilated Cardiomyopathy? A Systematic Review.
Politano L
International Journal of Molecular Sciences, 2024
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Desmin variants in cardiomyopathies - the hard yards in defining pathogenicity.
Walsh R
International Journal of Cardiology, 2021
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
Fischer B et al.
International Journal of Cardiology, 2021
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A et al.
Circulation. Cardiovascular Genetics, 2013
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
Chourbagi O et al.
Experimental Cell Research, 2011
Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.
Zlotogorski A et al.
Experimental Dermatology, 1998
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