Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
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
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K et al.
Muscle & Nerve, 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
Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.
Xu Z et al.
Clinical Case Reports, 2022
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
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
Atypical presentation of GNE myopathy with asymmetric hand weakness.
de Dios JK et al.
Neuromuscular Disorders : Nmd, 2014
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
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Leoyklang P et al.
Biomarkers in Medicine, 2014
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S et al.
Journal of Neuromuscular Diseases, 0
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