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.f4.xlsx › Sheet1
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
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Grandis M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010
Gene symbol: GNE. Disease: Inclusion body myopathy.
Bruno C et al.
Human Genetics, 2008
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Del Bo R et al.
Muscle & Nerve, 2003
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