Associated Papers
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
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
Desmin and its molecular chaperone, the αB-crystallin: How post-translational modifications modulate their functions in heart and skeletal muscles?
Claeyssen C et al.
Biochimie, 2024
Age and Sex Differences in the Genetics of Cardiomyopathy.
Akinrinade O et al.
Journal of Cardiovascular Translational Research, 2023
DES c.1360C>T: A Rare Desmin Variant Causing Early Distal Myopathy and Cardiomyopathy.
Dias R et al.
Cureus, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
De novo and inherited variants in coding and regulatory regions in genetic cardiomyopathies.
Vadgama N et al.
Human Genomics, 2022
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Janin A et al.
Molecular Diagnosis & Therapy, 2022
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
Arbustini E et al.
European Heart Journal, 2022
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith E et al.
Journal of the American Heart Association, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Mixed-Etiology Restrictive Cardiomyopathy (Desminopathy and Hemochromatosis) with Complex Liver Lesions.
Lutokhina Y et al.
Genes, 2022
Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death.
Neves R et al.
Circulation. Genomic and Precision Medicine, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Case report: Whole-exome sequencing identifies a novel DES mutation (p. E434K) in a Chinese family with cardiomyopathy and sudden cardiac death.
Liu YX et al.
Frontiers in Cardiovascular Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
Isolated left bundle branch block in the young: case reports and review of literature.
Kohli U et al.
Pacing and Clinical Electrophysiology : Pace, 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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Desmin-related myopathy characterized by non-compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection.
Tamiya R et al.
Esc Heart Failure, 2020
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
Kubánek M et al.
Journal of Clinical Medicine, 2020
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.
Oomen AWGJ et al.
Heartrhythm Case Reports, 2018
Isolated left bundle branch block progressing to complete heart block and asystole: A novel presentation of a desmin mutation.
Gearhart AS et al.
Heartrhythm Case Reports, 2018
Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.
Cerino M et al.
Muscle & Nerve, 2017
Genomic Triangulation and Coverage Analysis in Whole-Exome Sequencing-Based Molecular Autopsies.
Shanks GW et al.
Circulation. Cardiovascular Genetics, 2017
αB-crystallin is a sensor for assembly intermediates and for the subunit topology of desmin intermediate filaments.
Sharma S et al.
Cell Stress & Chaperones, 2017
Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.
Proost D et al.
The Journal of Molecular Diagnostics : Jmd, 2017
The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most.
Ackerman JP et al.
Mayo Clinic Proceedings, 2016
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.
Finsterer J et al.
Clinical Medicine Insights. Cardiology, 2016
Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Que D 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, 2015
Immunoblot as a potential diagnostic tool for myofibrillar myopathies.
Marini M et al.
Electrophoresis, 2015
Myofibrillar myopathies: State of the art, present and future challenges.
Béhin A et al.
Revue Neurologique, 2015
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Autophagic vacuolar pathology in desminopathies.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2015
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
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A et al.
The Journal of Biological Chemistry, 2012