Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
Xing Y et al.
Orphanet Journal of Rare Diseases, 2025
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Jiao K et al.
Journal of Medical Genetics, 2024
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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
37647632 (PubMed )
Supplement: BLOOD_BLD-2023-020118-mmc3.xlsx › ST3.3
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A et al.
Genes, 2022
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
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
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Kurochkina N et al.
Glycobiology, 2010
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO et al.
Biological Chemistry, 2009
Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.
Del Bo R et al.
Muscle & Nerve, 2003
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S et al.
Journal of Neuromuscular Diseases, 0
The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.
Awasthi K et al.
Neurology India, 0
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