Associated Papers
Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.
Chumakova OS et al.
Frontiers in Cardiovascular Medicine, 2025
40574817 (PubMed )
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A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.
Claes L et al.
Neuropediatrics, 2023
Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.
Noureddine M et al.
Frontiers in Physiology, 2023
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.
Onore ME et al.
International Journal of Molecular Sciences, 2022
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
Hypertrophic Cardiomyopathy: Diverse Pathophysiology Revealed by Genetic Research, Toward Future Therapy.
Hayashi T
The Keio Journal of Medicine, 2020
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.
Riley LG et al.
European Journal of Human Genetics : Ejhg, 2019
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.
Hayashi T et al.
Journal of Human Genetics, 2018
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy.
Harada H et al.
Journal of Human Genetics, 2018
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