Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A et al.
Genes, 2022
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
Hinderlich S et al.
Topics in Current Chemistry, 2015
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
GNE myopathy: new name and new mutation nomenclature.
Huizing M et al.
Neuromuscular Disorders : Nmd, 2014
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
Saechao C et al.
Genetic Testing and Molecular Biomarkers, 2010
Select a paper to view details