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
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
Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.
Yang AW et al.
Molecular Biology of the Cell, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
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
Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.
Maerkens A et al.
Journal of Proteomics, 2013
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
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
[Desmin filaments and their disorganization associated with myofibrillar myopathies].
Joanne P et al.
Biologie Aujourd'hui, 2011
[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
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
Claeys KG et al.
Acta Neuropathologica, 2009
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene.
Claeys KG et al.
Neuromuscular Disorders : Nmd, 2008
156th ENMC International Workshop: desmin and protein aggregate myopathies, 9-11 November 2007, Naarden, The Netherlands.
Goebel HH et al.
Neuromuscular Disorders : Nmd, 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