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
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
The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.
Silva AMS et al.
Journal of Neuropathology and Experimental Neurology, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Phenotypic Patterns of Cardiomyopathy Caused by Mutations in the Desmin Gene. A Clinical and Genetic Study in Two Inherited Heart Disease Units.
Ripoll-Vera T et al.
Revista Espanola De Cardiologia (english Ed.), 2015
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Olivé M et al.
Neuromuscular Disorders : Nmd, 2011
Molecular pathology of myofibrillar myopathies.
Ferrer I et al.
Expert Reviews in Molecular Medicine, 2008
Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies.
Olivé M et al.
Neuropathology and Applied Neurobiology, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
Olivé M et al.
Neuromuscular Disorders : Nmd, 2007
[Myofibrillar myopathies: another complex myopathic syndrome].
Olivé M et al.
Neurologia (barcelona, Spain), 2001