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Last Updated: 10/31/2025
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Found 691 publications
Perioperative Considerations in a Patient With Oculopharyngeal Muscular Dystrophy: A Case Report.
Journal: Cureus
Published: August 18, 2025
Untargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Journal: International journal of molecular sciences
Published: July 29, 2025
Disease-specific genetic diagnostic strategies for muscle diseases unresolved by short-read sequencing.
Journal: Journal of human genetics
Published: July 25, 2025
Treatment Guidelines and Rehabilitation in Spinal Muscular Atrophy and Duchenne's Muscular Dystrophy.
Journal: Physical medicine and rehabilitation clinics of North America
Published: June 28, 2025
Oculopharyngeal Muscular Dystrophy Is Not Responsive to Immunosuppressant Treatment.
Journal: Journal of clinical neuromuscular disease
Published: June 13, 2025
Current understanding of skeletal muscle repeat expansion disorders.
Journal: Current opinion in neurology
Published: June 09, 2025
Insights into the heterogeneity of oculopharyngeal muscular dystrophy.
Journal: Neurogenetics
Published: May 20, 2025
Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
Journal: Orphanet journal of rare diseases
Published: March 27, 2025
Multiscale Simulations and Profiling of Human Thymidine Phosphorylase Mutations: Insights into Structural, Dynamics, and Functional Impacts in Mitochondrial Neurogastrointestinal Encephalopathy.
Journal: The journal of physical chemistry. B
Published: March 20, 2025
Double seronegative myasthenia gravis and mimics: a retrospective cross-sectional study by two tertiary centers in the Southern Italy.
Journal: Journal of neurology
Published: March 16, 2025
Oculopharyngeal Muscular Dystrophy Responding to Treatment: A Report of 2 Cases.
Journal: Journal of clinical neuromuscular disease
Published: February 26, 2025
Last Updated: 10/31/2025