Associated Papers
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
A Novel DES L115F Mutation Identified by Whole Exome Sequencing is Associated with Inherited Cardiac Conduction Disease.
Hsu LA et al.
International Journal of Molecular Sciences, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
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
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death.
Brodehl A et al.
Circulation. Cardiovascular Genetics, 2013
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A et al.
The Journal of Biological Chemistry, 2012
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
Chourbagi O et al.
Experimental Cell Research, 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
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
Klauke B et al.
Human Molecular 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
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain.
Vernengo L et al.
Neuromuscular Disorders : Nmd, 2010
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