Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 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
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 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
Diagnostic Value of a Protocolized In-Depth Evaluation of Pediatric Bone Marrow Failure: A Multi-Center Prospective Cohort Study.
Atmar K et al.
Frontiers in Immunology, 2022
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
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
Nationwide patient registry for GNE myopathy in Japan.
Mori-Yoshimura M et al.
Orphanet Journal of Rare Diseases, 2014
25303967 (PubMed )
Supplement: 13023_2014_150_MOESM1_ESM.xlsx › Sheet1
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S et al.
Journal of Neuromuscular Diseases, 0
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