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
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
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
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
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme.
Bottega R et al.
Haematologica, 2022
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
Li X et al.
Bmc Medical Genetics, 2020
Distal myopathy and thrombocytopenia due to a novel GNE mutation.
Paul P et al.
Journal of the Neurological Sciences, 2020
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.
Izumi R et al.
Neuromuscular Disorders : Nmd, 2014
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