Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Long term clinical follow-up and natural history in a cohort of Italian patients with GNE myopathy: the experience of a single centre.
Pugliese A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
Xing Y et al.
Orphanet Journal of Rare Diseases, 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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K et al.
Muscle & Nerve, 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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Clinical, genetic, and pathological characterization of GNE myopathy in China.
Lv XQ et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
Discordant manifestations in Italian brothers with GNE myopathy.
Dotti MT et al.
Journal of the Neurological Sciences, 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
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
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
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family.
Stober A et al.
Neuromuscular Disorders : Nmd, 2010
Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent.
Saechao C et al.
Genetic Testing and Molecular Biomarkers, 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
Hereditary inclusion body myopathy: a decade of progress.
Huizing M et al.
Biochimica Et Biophysica Acta, 2009
Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.
Reinke SO et al.
Biological Chemistry, 2009
Hyposialylation of neprilysin possibly affects its expression and enzymatic activity in hereditary inclusion-body myopathy muscle.
Broccolini A et al.
Journal of Neurochemistry, 2008
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
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
Sparks S et al.
Bmc Neurology, 2007
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Savelkoul PJ et al.
Molecular Genetics and Metabolism, 2006
Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy.
Nonaka I et al.
Current Neurology and Neuroscience Reports, 2005
Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.
Broccolini A et al.
Human Mutation, 2004
Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene.
Hong Y et al.
The Journal of Biological Chemistry, 2003
Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.
Eisenberg I et al.
Human Mutation, 2003
A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees.
Arai A et al.
Annals of Neurology, 2002
The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.
Eisenberg I et al.
Nature Genetics, 2001
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