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 N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
Brodehl A et al.
Cells, 2022
Associations Between Polymorphisms of Endothelial Nitric Oxide Synthase, Matrix Metalloproteinase 3, Angiotensinogen, and Angiotensin II Type 1 Receptor and Risk of Restenosis After Percutaneous Coronary Intervention: A Meta-analysis.
Zhou S et al.
Clinical Therapeutics, 2020
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
New aspects of myofibrillar myopathies.
Kley RA et al.
Current Opinion in Neurology, 2016
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy.
Cabet E et al.
Plos One, 2015
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
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
[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
A myopathy-linked desmin mutation perturbs striated muscle actin filament architecture.
Conover GM et al.
Molecular Biology of the Cell, 2009
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
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Impact of disease mutations on the desmin filament assembly process.
Bär H et al.
Journal of Molecular Biology, 2006
Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.
Bär H et al.
Experimental Cell Research, 2006
Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.
Olivé M et al.
Journal of the Neurological Sciences, 2004
Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes.
Haubold K et al.
Cell Motility and the Cytoskeleton, 2003
Desmin - Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14-16 September 2001, Naarden, The Netherlands.
Goebel HH et al.
Neuromuscular Disorders : Nmd, 2002
Congenital myopathies and related disorders.
Taratuto AL
Current Opinion in Neurology, 2002
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Goudeau B et al.
Human Mutation, 2001