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
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 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
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M et al.
Acta Neuropathologica Communications, 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