Associated Papers
Case report - Recurrent myocarditis-like episodes in a patient with a rare variant in DES gene: an uncommon hot-phases cardiomyopathy.
Manfrin L et al.
Esc Heart Failure, 2026
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
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y et al.
Scientific Reports, 2023
37932340 (PubMed )
Supplement: 41598_2023_46466_MOESM2_ESM.xlsx › P14
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
37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
36788754 (PubMed )
Supplement: MGG3-11-e2143-s005.xlsx › Foglio1
Heterozygous desmin gene (DES) mutation contributes to familial dilated cardiomyopathy.
Huang YS et al.
The Journal of International Medical Research, 2021
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Mazzarotto F et al.
Circulation, 2020
31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S3
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
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Prevalence of desmin mutations in dilated cardiomyopathy.
Taylor MR et al.
Circulation, 2007
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