Associated Papers
Molecular genetics and therapeutic development for GNE myopathy.
Yoshioka W et al.
Journal of Human Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.
Manis C et al.
Molecules (basel, Switzerland), 2024
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
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.
Derksen A et al.
Human Mutation, 2024
Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN et al.
Genes, 2023
Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.
Zhang KY et al.
Journal of Cellular and Molecular Medicine, 2021
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
Chrisman C et al.
Journal of Clinical Neuromuscular Disease, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.
Carrillo N et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova O et al.
Neuromuscular Disorders : Nmd, 2018
The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.
Bugiardini E et al.
Frontiers in Neurology, 2018
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy.
Xu X et al.
Molecular Genetics and Metabolism, 2017
Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.
Cerino M et al.
Journal of Neuromuscular Diseases, 2015
GNE myopathy: current update and future therapy.
Nishino I et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
Mutation update for GNE gene variants associated with GNE myopathy.
Celeste FV et al.
Human Mutation, 2014