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
GNE Myopathy With Novel Mutations and Pronounced Paraspinal Muscle Atrophy.
Soule T et al.
Frontiers in Neurology, 2018
Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.
Chen SC et al.
Scientific Reports, 2016
26980148 (PubMed )
Supplement: srep23274-s1.pdf
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Cerino M et al.
Journal of Neuromuscular Diseases, 2015
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
A Case of GNE Myopathy Presenting a Rapid Deterioration during Pregnancy.
Sim JE et al.
Journal of Clinical Neurology (seoul, Korea), 2013
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
Sim JE et al.
Yonsei Medical Journal, 2013
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