Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Hydroxyethylamine & phthalimide analogs restoring defects due to GNE dysfunction: rare disease therapeutic significance.
Singh S et al.
Molecular Medicine (cambridge, Mass.), 2025
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
GNE myopathy with premature ovarian failure: Case report and review of the literature.
Yang S et al.
Molecular Genetics and Metabolism Reports, 2025
A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.
Saleem S et al.
Journal of Medical Case Reports, 2025
Clinically relevant variants detected in Chinese children with global developmental delay/intellectual disability: An exome-wide sequencing study.
Qiao Y et al.
Genes & Diseases, 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
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Pereira BL et al.
Molecular Genetics and Metabolism, 2025
Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.
Suzuki N et al.
Journal of Neuromuscular Diseases, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Jiao K et al.
Journal of Medical Genetics, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
[Carrier screening for 223 monogenic diseases in Chinese population: a multi-center study in 33 104 individuals].
Hou W et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2024
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K et al.
Muscle & Nerve, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
Tamanna N et al.
Genes, 2024
Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice.
Huang L et al.
Blood Advances, 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
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
Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.
Pan Y et al.
Translational Pediatrics, 2023
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
Yoshioka W et al.
Scientific Reports, 2022
The role of amyloid β in the pathological mechanism of GNE myopathy.
Zhang T et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Genetic and Clinical Spectrum of GNE Myopathy in Russia.
Murtazina A et al.
Genes, 2022
Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.
Schmitt RE et al.
Npj Regenerative Medicine, 2022
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
Different electrophysiology patterns in GNE myopathy.
Liu X et al.
Orphanet Journal of Rare Diseases, 2022
Distal myopathy due to TCAP variants in four unrelated Chinese patients.
Lv X et al.
Neurogenetics, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy.
Miao J et al.
Medicine, 2020
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
Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
Wu Y et al.
Journal of Cellular and Molecular Medicine, 2018
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Quantification of lectin fluorescence in GNE myopathy muscle biopsies.
Leoyklang P et al.
Muscle & Nerve, 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
CDG Therapies: From Bench to Bedside.
Brasil S et al.
International Journal of Molecular Sciences, 2018
Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions.
Pham ND et al.
The Journal of Biological Chemistry, 2017
GNE myopathy in a Chinese male with a novel homozygous mutation.
Rui B et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Zhu W et al.
Journal of Human Genetics, 2017
Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.
Chan YM et al.
Plos One, 2017
Genetic defects in the hexosamine and sialic acid biosynthesis pathway.
Willems AP et al.
Biochimica Et Biophysica Acta, 2016