Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 2023
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A et al.
Genes, 2022
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.
Su F et al.
Experimental and Therapeutic Medicine, 2018
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.
Liu N et al.
Neuroreport, 2015
[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].
Lu XH et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
Ishihara S et al.
Journal of Medical and Dental Sciences, 2008
Select a paper to view details