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Last Updated: 01/07/2026
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Found 115 publications
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.
Journal: BMC musculoskeletal disorders
Published: August 12, 2025
Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.
Journal: Molecular medicine (Cambridge, Mass.)
Published: July 10, 2025
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.
Journal: Journal of neuromuscular diseases
Published: February 20, 2025
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Journal: Molecular genetics and metabolism
Published: December 28, 2024
Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: November 05, 2024
Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.
Journal: Internal medicine (Tokyo, Japan)
Published: October 20, 2024
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Journal: Journal of neuromuscular diseases
Published: August 30, 2024
A pilot trial for efficacy confirmation of 6'-sialyllactose supplementation in GNE myopathy: Randomized, placebo-controlled trial.
Journal: Molecular genetics and metabolism
Published: June 30, 2024
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
Journal: Journal of neuromuscular diseases
Published: June 14, 2024
Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder.
Journal: Cell biology international
Published: June 12, 2024
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Journal: Journal of medical genetics
Published: May 30, 2024
Last Updated: 01/07/2026