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 biallelic GNE variants identified in a patient with chronic thrombocytopenia without any symptoms of myopathy.
Tsuda S et al.
Annals of Hematology, 2024
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K et al.
Muscle & Nerve, 2024
Epidemiological characteristics of patients with Hutchinson-Gilford progeria syndrome and progeroid laminopathies in China.
Wang J et al.
Pediatric Research, 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
Distal myopathy and thrombocytopenia due to a novel GNE mutation.
Paul P et al.
Journal of the Neurological Sciences, 2020
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