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
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Hovhannisyan Y et al.
Stem Cell Research & Therapy, 2024
Desmin mutations impact the autophagy flux in C2C12 cell in mutation-specific manner.
Sukhareva KS et al.
Cell and Tissue Research, 2023
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
Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation.
Shelly S et al.
Neurology, 2021
Desmin mutations result in mitochondrial dysfunction regardless of their aggregation properties.
Smolina N et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
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
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes.
Smolina N et al.
Cell Calcium, 2014
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.
Semmler AL et al.
Orphanet Journal of Rare Diseases, 2014
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
Desminopathies: pathology and mechanisms.
Clemen CS et al.
Acta Neuropathologica, 2013
Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.
Maddison P et al.
European Neurology, 2012
Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.
Olivé M et al.
Neuromuscular Disorders : Nmd, 2011
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14.
Choi BO et al.
Human Mutation, 2011
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
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K et al.
The Journal of Clinical Investigation, 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
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
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
Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P.
Walter MC et al.
Brain : a Journal of Neurology, 2007
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
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.
Dagvadorj A et al.
Muscle & Nerve, 2003
[Radical correction of an atypical variant of aortic coarctation].
Solov'ev GM et al.
Grudnaia I Serdechno-sosudistaia Khirurgiia, 1990
[Cloning and structural analysis of cDNA coding for human prointerleukin-1 alpha and prointerleukin-1 beta].
Kotenko SV et al.
Molekuliarnaia Genetika, Mikrobiologiia I Virusologiia, 1989