Associated Papers
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
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
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2016
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
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
Lu X et al.
Neurological Research, 2011
[Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data].
Lu XH et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011
Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles.
Li H et al.
Journal of Human Genetics, 2011
Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
Kurochkina N et al.
Glycobiology, 2010
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family.
Chu CC et al.
Clinical Neurology and Neurosurgery, 2007
Phenotypic variability in a Chinese family with rimmed vacuolar distal myopathy.
Ro LS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
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