Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Novel missense variants associated with GNE myopathy.
Ranta-Aho J et al.
Neuromuscular Disorders : Nmd, 2025
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
GNE myopathy with premature ovarian failure: Case report and review of the literature.
Yang S et al.
Molecular Genetics and Metabolism Reports, 2025
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Pereira BL et al.
Molecular Genetics and Metabolism, 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
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
Novel GNE mutations in three Chinese patients with typical GNE myo-pathy.
Ban R et al.
Jpma. the Journal of the Pakistan Medical Association, 2020
Progression of GNE Myopathy Based on the Patient-Reported Outcome.
Park YE et al.
Journal of Clinical Neurology (seoul, Korea), 2019
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients.
Su F et al.
Experimental and Therapeutic Medicine, 2018
Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.
Chen SC et al.
Scientific Reports, 2016
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2016
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles.
Liu N et al.
Neuroreport, 2015
GNE myopathy: current update and future therapy.
Nishino I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.
Hinderlich S et al.
Topics in Current Chemistry, 2015
Nationwide patient registry for GNE myopathy in Japan.
Mori-Yoshimura M et al.
Orphanet Journal of Rare Diseases, 2014
Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
Cho A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
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
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
Sim JE et al.
Yonsei Medical Journal, 2013
Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).
Mori-Yoshimura M et al.
Neuromuscular Disorders : Nmd, 2013
Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
Park YE et al.
Journal of the Neurological Sciences, 2012
Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
Mori-Yoshimura M et al.
Journal of the Neurological Sciences, 2012
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
[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].
Lu XH et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 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
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
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in nuclei and rimmed vacuoles of muscle fibers in DMRV (distal myopathy with rimmed vacuoles).
Ishihara S et al.
Journal of Medical and Dental Sciences, 2008
Hereditary inclusion body myopathy with a novel mutation in the GNE gene associated with proximal leg weakness and necrotizing myopathy.
Motozaki Y et al.
European Journal of Neurology, 2007
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Penner J et al.
Biochemistry, 2006
Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles.
Kim BJ et al.
Journal of Human Genetics, 2006
Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
Noguchi S et al.
The Journal of Biological Chemistry, 2004
The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.
Awasthi K et al.
Neurology India, 0