Associated Papers
Early-onset restrictive cardiomyopathy with life-threatening arrhythmia caused by a homozygous desmin mutation: a case report.
Wang T et al.
Bmc Pediatrics, 2025
Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum.
Alonso-Pérez J et al.
Neurologia, 2025
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
Bermudez-Jimenez FJ et al.
Jacc. Clinical Electrophysiology, 2024
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 2018
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
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
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
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