Associated Papers
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
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes.
Sepp R et al.
Diagnostics (basel, Switzerland), 2022
New roles for desmin in the maintenance of muscle homeostasis.
Agnetti G et al.
The Febs Journal, 2022
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS et al.
The Journal of International Medical Research, 2021
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
Kulikova O et al.
Genes, 2021
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Smolina N et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia.
Rosset S et al.
Heartrhythm Case Reports, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Mitochondrial dysfunction in myofibrillar myopathy.
Vincent AE et al.
Neuromuscular Disorders : Nmd, 2016
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
Brodehl A et al.
Journal of Molecular and Cellular Cardiology, 2016
Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular Disorders.
Finsterer J et al.
Clinical Medicine Insights. Cardiology, 2016
Pathogenesis of Arrhythmogenic Cardiomyopathy.
Asimaki A et al.
The Canadian Journal of Cardiology, 2015
FBN1 contributing to familial congenital diaphragmatic hernia.
Beck TF et al.
American Journal of Medical Genetics. Part A, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.
Walsh MA et al.
Circulation. Heart Failure, 2012
Desmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins.
Kostareva A et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2011
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
Hong D et al.
Neuropathology and Applied Neurobiology, 2011
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010
[Clinical characteristics and desmin mutations in patients with desminopathy associated cardiomyopathy from 5 Chinese families].
Hong DJ et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2010
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.
Conover GM et al.
Molecular Biology of the Cell, 2009
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H et al.
Human Mutation, 2007
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
Desmin mutations in a St. Petersburg cohort of cardiomyopathies.
Kostareva A et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2006
Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.
Goudeau B et al.
Human Mutation, 2006
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Neuromuscular implications in left ventricular hypertrabeculation/noncompaction.
Finsterer J et al.
International Journal of Cardiology, 2006
Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.
Bär H et al.
Experimental Cell Research, 2006
Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family.
Yu R et al.
Cardiology, 0