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
Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.
Voinescu OR et al.
Medicina (kaunas, Lithuania), 2024
Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.
Yang Z et al.
Reviews in Cardiovascular Medicine, 2022
Genetic Insights into Primary Restrictive Cardiomyopathy.
Brodehl A et al.
Journal of Clinical Medicine, 2022
Desmin Modulates Muscle Cell Adhesion and Migration.
Hakibilen C et al.
Frontiers in Cell and Developmental Biology, 2022
Desmin variants: Trigger for cardiac arrhythmias?
Su W et al.
Frontiers in Cell and Developmental Biology, 2022
Genetic Restrictive Cardiomyopathy: Causes and Consequences-An Integrative Approach.
Cimiotti D et al.
International Journal of Molecular Sciences, 2021
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
The desmin network is a determinant of the cytoplasmic stiffness of myoblasts.
Charrier EE et al.
Biology of the Cell, 2018
Myofibrillar Myopathies: New Perspectives from Animal Models to Potential Therapeutic Approaches.
Batonnet-Pichon S et al.
Journal of Neuromuscular Diseases, 2017
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.
Charrier EE et al.
Biophysical Journal, 2016
Desmin in muscle and associated diseases: beyond the structural function.
Hnia K et al.
Cell and Tissue Research, 2015
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
Joanne P et al.
Skeletal Muscle, 2013
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
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy.
Levin J et al.
Journal of Neuropathology and Experimental Neurology, 2010
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.
Goldfarb LG et al.
The Journal of Clinical Investigation, 2009
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation".
Grasso M et al.
International Journal of Cardiology, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.
Pruszczyk P et al.
International Journal of Cardiology, 2007
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Bär H et al.
Human Mutation, 2007
Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6.
Horev L et al.
Human Heredity, 0