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
A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.
Bueno Marinas M et al.
International Journal of Molecular Sciences, 2024
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
Bermudez-Jimenez FJ et al.
Jacc. Clinical Electrophysiology, 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
Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.
Geryk M et al.
Journal of Cellular Physiology, 2024
Arrhythmogenic Left Ventricular Cardiomyopathy: From Diagnosis to Risk Management.
Mauriello A et al.
Journal of Clinical Medicine, 2024
The Myocardial Accumulation of Aggregated Desmin Protein in a Case of Desminopathy with a de novo DES p.R406W Mutation.
Takegami N et al.
Internal Medicine (tokyo, Japan), 2023
The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.
Tadros HJ et al.
The Application of Clinical Genetics, 2023
Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review.
Bariani R et al.
Journal of Clinical Medicine, 2022
Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Gerull B et al.
Current Heart Failure Reports, 2021
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
James CA et al.
Circulation. Genomic and Precision Medicine, 2021
Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins.
Maggi L et al.
International Journal of Molecular Sciences, 2021
Myocardial fibrosis in arrhythmogenic cardiomyopathy: a genotype-phenotype correlation study.
Segura-Rodríguez D et al.
European Heart Journal. Cardiovascular Imaging, 2020
ACTN2 variant associated with a cardiac phenotype suggestive of left-dominant arrhythmogenic cardiomyopathy.
Good JM et al.
Heartrhythm Case Reports, 2020
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.
Towbin JA et al.
Heart Rhythm, 2019
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Marakhonov AV et al.
Human Mutation, 2019
A novel desmin mutation causing severe left ventricular arrhythmogenic cardiomyopathy/dysplasia.
Bazoukis G et al.
Journal of Thoracic Disease, 2018
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Intermediate filaments in cardiomyopathy.
Tsikitis M et al.
Biophysical Reviews, 2018
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Bermúdez-Jiménez FJ et al.
Circulation, 2018
Arrhythmogenic Cardiomyopathy: Mechanotransduction Going Wrong.
Mestroni L et al.
Circulation, 2018
Clinical and Genetic Diagnosis of Nonischemic Sudden Cardiac Death.
Jiménez-Jáimez J et al.
Revista Espanola De Cardiologia (english Ed.), 2017