Associated Papers
Desmin mutations in cardiomyocytes increase susceptibility to coxsackievirus B3 infection by impairing antiviral IFN-β response and upregulating viral receptors expression.
Callon D et al.
Stem Cell Research & Therapy, 2026
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Deep Characterization of a Greek Patient with Desmin-Related Myofibrillar Myopathy and Cardiomyopathy.
Papadopoulos C et al.
International Journal of Molecular Sciences, 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
A different background of arrhythmia in siblings with a positive family history of sudden death at young age.
Stępień-Wojno M et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Prevalence, pathological mechanisms, and genetic basis of limb-girdle muscular dystrophies: A review.
Taghizadeh E et al.
Journal of Cellular Physiology, 2019
A novel phenotype with splicing mutation identified in a Chinese family with desminopathy.
Fan P et al.
Chinese Medical Journal, 2019
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Restrictive cardiomyopathy due to novel desmin gene mutation.
Ojrzyńska N et al.
Kardiologia Polska, 2017
Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.
Golbus JR et al.
Circulation. Cardiovascular Genetics, 2014
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
Wahbi K et al.
Neuromuscular Disorders : Nmd, 2012
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
Greenberg SA et al.
Annals of Neurology, 2012
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
McDonald KK et al.
Plos One, 2012
How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy.
Clemen CS et al.
Human Mutation, 2009
[Primary immunodeficiency complicated with Bacillus Calmette-Guerin infection: identification and clinical phenotype of a case of novel interleukin-12Rbeta1 gene mutation].
Xie N et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Intermediate filament diseases: desminopathy.
Goldfarb LG et al.
Advances in Experimental Medicine and Biology, 2008
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E et al.
European Journal of Heart Failure, 2006
[PCR-based site-directed mutagenesis and recombinant expression plasmid construction of a SCN5A mutation (K317N) identified in a Chinese family with Brugada syndrome].
Yi SD et al.
Di 1 Jun Yi Da Xue Xue Bao = Academic Journal of the First Medical College of Pla, 2003
Desmin splice variants causing cardiac and skeletal myopathy.
Park KY et al.
Journal of Medical Genetics, 2000
A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates.
Sugawara M et al.
Neurology, 2000
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas MC et al.
The New England Journal of Medicine, 2000