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Last Updated: 10/31/2025
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Found 389 publications
Adult-onset desmin myopathy in a patient with multiple sclerosis.
Journal: Ideggyogyaszati szemle
Published: October 01, 2025
The p.P51L mutation in human HspB5: Structural and functional changes linked to cardiomyopathy and cataract pathogenesis.
Journal: International journal of biological macromolecules
Published: August 07, 2025
Infrequent, but Not Intricate Radiological and Pathological Diagnosis of Chronic Intestinal Pseudo-Obstruction-Presented in a Two Pediatrics Cases of the Visceral Myopathy.
Journal: Diagnostics (Basel, Switzerland)
Published: July 27, 2025
Review of 40 genes causing congenital myasthenic syndromes.
Journal: Journal of human genetics
Published: June 01, 2025
Ossifying Spindled and Epithelioid Tumor: A Novel Soft Tissue Tumor.
Journal: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Published: May 12, 2025
The role of the N-terminal p.R56Q mutation in modulating oligomerization and chaperone activity of human αB-crystallin in relation to cardiomyopathy.
Journal: Biochimica et biophysica acta. Proteins and proteomics
Published: May 03, 2025
Case Report: Diverse cardiac and muscular phenotypes in DES c.1024A>G (p.Asn342Asp) variant: a case series with limb weakness as the initial presentation.
Journal: Frontiers in cardiovascular medicine
Published: April 11, 2025
Case Report: A first case of desmin-related myofibrillar myopathy due to inheritance from a confirmed mosaic asymptomatic carrier.
Journal: Frontiers in genetics
Published: March 21, 2025
Severe conduction block and cardiomyopathy associated with desminopathy.
Journal: Cardiology in the young
Published: March 14, 2025
Integrated phenotypic and transcriptomic characterization of desmin-related cardiomyopathy in hiPSC-derived cardiomyocytes and machine learning-based classification of disease features.
Journal: European journal of cell biology
Published: March 11, 2025
Consequences of plectin ablation on the various intermediate filament systems in skeletal muscle.
Journal: European journal of cell biology
Published: March 07, 2025
Mutational and clinical spectrum of myofibrillar myopathy in one center from China.
Journal: Journal of neuromuscular diseases
Published: February 20, 2025
Last Updated: 10/31/2025