Associated Papers
Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death.
Lam P et al.
Journal of Neuromuscular Diseases, 2025
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 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
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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 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
Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder.
Sharma S et al.
Cell Biology International, 2025
Beyond sialylation: Exploring the multifaceted role of GNE in GNE myopathy.
Pereira BL et al.
Molecular Genetics and Metabolism, 2025
Disease Progression of GNE Myopathy and Its Relationship With Genotype: A Retrospective, Observational Study in Chinese Patients.
Sun H et al.
Neurology. Genetics, 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
Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan.
Yoshioka W et al.
Journal of Neurology, 2024
Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia.
Jiao K et al.
Muscle & Nerve, 2024
GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation.
Neu CT et al.
Glycobiology, 2024
Understanding pathophysiology of GNE myopathy and current progress towards drug development.
Mashangva F et al.
Journal of Biosciences, 2024
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
Harazi A et al.
Journal of Neuromuscular Diseases, 2024
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
Mitrani-Rosenbaum S et al.
Neuromuscular Disorders : Nmd, 2023
Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway.
Zhang T et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023
Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.
Wei XJ et al.
Frontiers in Neurology, 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
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Ogasawara M et al.
Acta Neuropathologica Communications, 2022
Effect of GNE Mutations on Cytoskeletal Network Proteins: Potential Gateway to Understand Pathomechanism of GNEM.
Yadav R et al.
Neuromolecular Medicine, 2022
Neuromuscular disorders: finding the missing genetic diagnoses.
Koczwara KE et al.
Trends in Genetics : Tig, 2022
Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder.
Sharma S et al.
Biochimie, 2022
Gene analysis and clinical features of 22 GNE myopathy patients.
Guo X 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
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Different electrophysiology patterns in GNE myopathy.
Liu X et al.
Orphanet Journal of Rare Diseases, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy.
Mitrani-Rosenbaum S et al.
Journal of Neuromuscular 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
Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.
Mori-Yoshimura M et al.
Bmj Neurology Open, 2022
Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.
Devi SS et al.
Molecular Neurobiology, 2021
Elucidation of ER stress and UPR pathway in sialic acid-deficient cells: Pathological relevance to GNEM.
Chaudhary P et al.
Journal of Cellular Biochemistry, 2021
Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.
Zhang KY et al.
Journal of Cellular and Molecular Medicine, 2021
Altered Actin Dynamics in Cell Migration of GNE Mutant Cells.
Devi SS et al.
Frontiers in Cell and Developmental Biology, 2021
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 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
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan.
Yoshioka W et al.
Orphanet Journal of Rare Diseases, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020