Associated Papers
GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.
Alshaikhi OA et al.
Hematology (amsterdam, Netherlands), 2026
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
GNE myopathy with premature ovarian failure: Case report and review of the literature.
Yang S et al.
Molecular Genetics and Metabolism Reports, 2025
Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset.
Sakai K et al.
Internal Medicine (tokyo, Japan), 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
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.
Jiao K et al.
Journal of Medical Genetics, 2024
Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy.
Tamanna N et al.
Genes, 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
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
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
Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review.
Xu Z et al.
Clinical Case Reports, 2022
Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.
Toyama M et al.
Plos One, 2022
GNE myopathy: History, etiology, and treatment trials.
Mullen J et al.
Frontiers in Neurology, 2022
Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review.
Li X et al.
Bmc Medical Genetics, 2020
Distal myopathy and thrombocytopenia due to a novel GNE mutation.
Paul P et al.
Journal of the Neurological Sciences, 2020
Progression of GNE Myopathy Based on the Patient-Reported Outcome.
Park YE et al.
Journal of Clinical Neurology (seoul, Korea), 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
Galactosyl carbohydrate residues on hematopoietic stem/progenitor cells are essential for homing and engraftment to the bone marrow.
Takagaki S et al.
Scientific Reports, 2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 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 in the bedouin population of Kuwait: Genetics, prevalence, and clinical description.
Alrohaif H et al.
Muscle & Nerve, 2018
GNE Myopathy with Prominent Axial Muscle Involvement.
Park JM et al.
Journal of Clinical Neurology (seoul, Korea), 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
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
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Zhu W et al.
Journal of Human Genetics, 2017
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
Genetics of GNE myopathy in the non-Jewish Persian population.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Genetic advances in sporadic inclusion body myositis.
Gang Q et al.
Current Opinion in Rheumatology, 2015
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
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