Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.
Deng J et al.
Bmc Musculoskeletal Disorders, 2025
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
Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.
Yoshioka W et al.
Annals of Indian Academy of Neurology, 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
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.
Subbotin D et al.
Frontiers in Genetics, 2024
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A et al.
Genes, 2022
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
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
GNE myopathy: from clinics and genetics to pathology and research strategies.
Pogoryelova O et al.
Orphanet Journal of Rare Diseases, 2018
GNE-Myopathy in a Greek Romani Family with Unusual Calf Phenotype and Protein Aggregation Pathology.
Papadimas GK et al.
Journal of Neuromuscular Diseases, 2016
GNE myopathy in Roma patients homozygous for the p.I618T founder mutation.
Chamova T et al.
Neuromuscular Disorders : Nmd, 2015
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: 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
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch 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
Crystal structures of N-acetylmannosamine kinase provide insights into enzyme activity and inhibition.
Martinez J et al.
The Journal of Biological Chemistry, 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
First- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.
Levy R et al.
Human Mutation, 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
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype.
Grandis M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2010
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
Crystal structure of the N-acetylmannosamine kinase domain of GNE.
Tong Y et al.
Plos One, 2009
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Gene symbol: GNE. Disease: Inclusion body myopathy.
Bruno C et al.
Human Genetics, 2008
[Distal myopathy due to mutations of GNE gene: clinical spectrum and diagnosis].
Béhin A et al.
Revue Neurologique, 2008
Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy.
Penner J et al.
Biochemistry, 2006
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands.
Kalaydjieva L et al.
Neuromuscular Disorders : Nmd, 2005
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent.
Bhattacharya S et al.
Journal of Neuromuscular Diseases, 0
The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care.
Awasthi K et al.
Neurology India, 0