Associated Papers
Biosynthetic and genetic pathways related to sialic acid metabolism.
Huang S et al.
The Journal of Biological Chemistry, 2026
Whole-exome sequencing reveals GRHPR gene mutation in a 4-year-old girl with chronic kidney disease: a case report.
Farooq B et al.
Annals of Medicine and Surgery (2012), 2026
Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.
Boonsri P et al.
Plos One, 2026
Novel missense variants associated with GNE myopathy.
Ranta-Aho J et al.
Neuromuscular Disorders : Nmd, 2025
Computational insights into dynamics and conformational stability of N-acetylmannosamine kinase mutations.
Abdel-Naim AB et al.
Journal of Biomolecular Structure & Dynamics, 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
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 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
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 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
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
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
Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort.
Attri S et al.
Open Medicine (warsaw, Poland), 2021
Rapid whole-genome sequencing identifies a homozygous novel variant, His540Arg, in HSD17B4 resulting in D-bifunctional protein deficiency disorder diagnosis.
Savage L et al.
Cold Spring Harbor Molecular Case Studies, 2020
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
Chakravorty S et al.
Muscle & Nerve, 2019
GNE myopathy in Chinese population: hotspot and novel mutations.
Chen Y et al.
Journal of Human Genetics, 2019
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
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
Riazuddin S et al.
Molecular Psychiatry, 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
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
Zhu W et al.
Journal of Human Genetics, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy.
Zhao J et al.
Journal of the Neurological Sciences, 2015
GNE myopathy: current update and future therapy.
Nishino I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.
Weihl CC et al.
Neuromuscular Disorders : Nmd, 2015
Inclusion body myositis - pathomechanism and lessons from genetics.
Murnyák B et al.
Open Medicine (warsaw, Poland), 2015
Two recurrent mutations are associated with GNE myopathy in the North of Britain.
Chaouch A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Atypical presentation of GNE myopathy with asymmetric hand weakness.
de Dios JK et al.
Neuromuscular Disorders : Nmd, 2014
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014
GNE myopathy: new name and new mutation nomenclature.
Huizing M et al.
Neuromuscular Disorders : Nmd, 2014
A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation.
Tanboon J et al.
Case Reports in Neurology, 2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Leoyklang P et al.
Biomarkers in Medicine, 2014
Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.
Sim JE et al.
Yonsei Medical Journal, 2013
Novel GNE mutations in autosomal recessive hereditary inclusion body myopathy patients.
No D et al.
Genetic Testing and Molecular Biomarkers, 2013
Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients.
Lu X et al.
Neurological Research, 2011
[GNE gene mutation analysis in 5 patients with distal myopathy with rimmed vacuoles].
Lu XH et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
Boyden SE et al.
Bmc Medical Genetics, 2011
[Familial and sporadic distal myopathy with rimmed vacuoles: comparison of the clinical, pathological, laboratory test and follow-up data].
Lu XH et al.
Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2011