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
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
Brodehl A et al.
The Journal of Biological Chemistry, 2012
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
Genetics and pathogenesis of distal muscular dystrophies.
Udd B
Advances in Experimental Medicine and Biology, 2009
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H et al.
Human Mutation, 2007
New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.
Lapouge K et al.
Journal of Cell Science, 2006
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.
Arias M et al.
Neuromuscular Disorders : Nmd, 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
Structural and functional analysis of a new desmin variant causing desmin-related myopathy.
Goudeau B et al.
Human Mutation, 2001
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Sugawara M et al.
Neurology, 2000