Associated Papers
Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.
Shah RA et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2025
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
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
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Desmosomal Arrhythmogenic Cardiomyopathy: The Story Telling of a Genetically Determined Heart Muscle Disease.
Thiene G et al.
Biomedicines, 2023
Role of non-coding variants in cardiovascular disease.
Heshmatzad K et al.
Journal of Cellular and Molecular Medicine, 2023
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
Genetic Background and Clinical Features in Arrhythmogenic Left Ventricular Cardiomyopathy: A Systematic Review.
Bariani R et al.
Journal of Clinical Medicine, 2022
Pregnancy Outcomes in Females With Dilated Cardiomyopathy-Associated Rare Genetic Variants.
Peters S et al.
Circulation. Genomic and Precision Medicine, 2022
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction.
Abou Ziki MD et al.
Human Mutation, 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
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS et al.
The Journal of International Medical Research, 2021
DES mutation associated with cardiac hypertrophy and alternating bundle branch block.
Chen R et al.
Heartrhythm Case Reports, 2021
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family.
Nicolau S et al.
Frontiers in Neurology, 2019
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
Winter L et al.
Acta Neuropathologica, 2016
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Desmin related disease: a matter of cell survival failure.
Capetanaki Y et al.
Current Opinion in Cell Biology, 2015
Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA.
McCormick EM et al.
Frontiers in Genetics, 2015
An unusual phenotype of late-onset desminopathy.
Palmio J et al.
Neuromuscular Disorders : Nmd, 2013
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
van Spaendonck-Zwarts KY et al.
European Journal of Heart Failure, 2013
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy.
Lorenzon A et al.
The American Journal of Cardiology, 2013
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
van Spaendonck-Zwarts KY et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2012
Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks.
Otten E et al.
Heart Rhythm, 2010
Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.
Sharma S et al.
Journal of Molecular Medicine (berlin, Germany), 2009
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene.
van Tintelen JP et al.
Heart Rhythm, 2009
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
Pica EC et al.
Neuromuscular Disorders : Nmd, 2008
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE et al.
European Journal of Medical Genetics, 0