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
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
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
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Pereira BL et al.
Molecular Genetics and Metabolism, 2025
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.
Malfatti E et al.
Clinical Genetics, 2025
PTMD 2.0: an updated database of disease-associated post-translational modifications.
Huang X et al.
Nucleic Acids Research, 2025
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
Tamanna N et al.
Genes, 2024
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Rips J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Evaluation of N-Acetylmannosamine Administration to Restore Sialylation in GNE-Deficient Human Embryonal Kidney Cells.
Peters E et al.
Frontiers in Bioscience (landmark Edition), 2023
Inclusion body myositis: from genetics to clinical trials.
Nagy S et al.
Journal of Neurology, 2023
Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
Attri S et al.
Genes, 2023
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
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
In vivo and in vitro genome editing to explore GNE functions.
Ilouz N et al.
Frontiers in Genome Editing, 2022
GNE myopathy: History, etiology, and treatment trials.
Mullen J et al.
Frontiers in Neurology, 2022
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Thigh and Leg Muscle MRI Findings in GNE Myopathy.
Fatehi F et al.
Journal of Neuromuscular Diseases, 2021
Sequestosome-1 (p62) expression reveals chaperone-assisted selective autophagy in immune-mediated necrotizing myopathies.
Fischer N et al.
Brain Pathology (zurich, Switzerland), 2020
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G et al.
Molecular Genetics & Genomic Medicine, 2020
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Rationale and Design for a Phase 1 Study of N-Acetylmannosamine for Primary Glomerular Diseases.
Huizing M et al.
Kidney International Reports, 2019
Podocyte-Specific Sialylation-Deficient Mice Serve as a Model for Human FSGS.
Niculovic KM et al.
Journal of the American Society of Nephrology : Jasn, 2019
Non-GNE Quadriceps Sparing Distal Myopathy in an Iranian Jewish Patient.
Mishra SK et al.
Journal of Clinical Neuromuscular Disease, 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
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
Mutation in GNE Downregulates Peroxiredoxin IV Altering ER Redox Homeostasis.
Chanana P et al.
Neuromolecular Medicine, 2017
Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.
Garland J et al.
Molecular Genetics & Genomic Medicine, 2017
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
The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant.
Harazi A et al.
Molecular Neurobiology, 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
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Monies D et al.
Human Genomics, 2016
Genetic defects in the hexosamine and sialic acid biosynthesis pathway.
Willems AP et al.
Biochimica Et Biophysica Acta, 2016
GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.
Singh R et al.
Molecular Neurobiology, 2016
Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.
Bennmann D et al.
The Febs Journal, 2016