• <em>DNAJB2</em> c.184C&gt;T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
• A novel deletion in the C-terminal region of HSPB8 in a family with rimmed vacuolar myopathy
• A novel mutation alters GNE bifunctional enzyme activity and leads to familial inherited GNE diseases
• A novel mutation in the valosin-containing-protein gene found in a Spanish family
• A phase 3 randomized study evaluating sialic acid extended-release for GNE myopathy
• A report on GNE myopathy: Individuals of Rajasthan ancestry share the Roma gene
• Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy
• Aceneuramic Acid Extended Release Administration Maintains Upper Limb Muscle Strength in a 48-week Study of Subjects with GNE Myopathy: Results from a Phase 2, Randomized, Controlled Study
• Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy
• Altered autophagic flux in GNE mutant cells of Indian origin: Potential drug target for GNE myopathy
• C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
• Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis
• Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion
• Clinical, genetic, and pathological characterization of GNE myopathy in China
• Comparison of Serum rAAV Serotype-Specific Antibodies in Patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis, or GNE Myopathy
• Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle
• Different electrophysiology patterns in GNE myopathy
• Distal myopathy due to TCAP variants in four unrelated Chinese patients
• DNAJB2 c.184C>T mutation associated with distal hereditary motor neuropathy with rimmed vacuolar myopathy
• Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan
• Efficacy of Aceneuramic Acid for Distal Myopathy with Rimmed Vacuoles
• Epigenetic Regulation of mRNA Polyadenylation Site Selection
• Evaluation of <em>N</em>-Acetylmannosamine Administration to Restore Sialylation in <em>GNE</em>-Deficient Human Embryonal Kidney Cells
• Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre
• Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan
• Functional characterization of GNE mutations prevalent in Asian subjects with GNE myopathy, an ultra-rare neuromuscular disorder
• Gene analysis and clinical features of 22 GNE myopathy patients
• Genetic and Clinical Spectrum of GNE Myopathy in Russia
• Genetics of GNE myopathy in the non-Jewish Persian population
• Glycation Interferes with the Activity of the Bi-Functional UDP-<em>N</em>-Acetylglucosamine 2-Epimerase/<em>N</em>-Acetyl-mannosamine Kinase (GNE)
• Glycogen accumulation in GNE myopathy
• GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation
• GNE myopathy
• GNE myopathy - A cross-sectional study on spatio-temporal gait characteristics
• GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy
• GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing
• GNE myopathy in a Chinese male with a novel homozygous mutation
• GNE myopathy: a personal trip from bedside observation to therapeutic trials
• GNE myopathy: a prospective natural history study of disease progression
• GNE myopathy: can homozygous asymptomatic subjects give a clue for the identification of protective factors?
• GNE myopathy: from clinics and genetics to pathology and research strategies
• GNE myopathy: new name and new mutation nomenclature
• GNE myopathy: proven failure of sialic acid supplementation what's next?
• GNE myopathy: proven failure of sialic acid supplementation… what's next?
• Granuloma formation in a patient with GNE myopathy: A case report
• Growth deficiency and enhanced basal immunity in Arabidopsis thaliana mutants of EDM2, EDM3 and IBM2 are genetically interlinked
• Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy
• Impaired Autophagy in Retinal Pigment Epithelial Cells Induced from iPS Cell of Distal Myopathy with Rimmed Vacuole Patient
• Interaction between the AAA⁺ ATPase p97 and its cofactor ataxin3 in health and disease: Nucleotide-induced conformational changes regulate cofactor binding
• Large phenotypic diversity by genotype in patients with GNE myopathy: 10 years after the establishment of a national registry in Japan
• Metformin protects fibroblasts from patients with GNE myopathy by restoring autophagic flux via an AMPK/mTOR-independent pathway
• Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele
• Motor axonal neuropathy associated with GNE mutations
• Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A&gt;T, in patients with GNE myopathy
• Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy
• Multiple isogenic GNE-myopathy modeling with mutation specific phenotypes from human pluripotent stem cells by base editors
• Muscle biopsy and UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene mutation analysis in two Chinese patients with distal myopathy with rimmed vacuoles
• Muscle biopsy with dystrophic pattern and rimmed vacuoles: GNE myopathy in a Brazilian patient
• Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent
• Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK
• Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
• Neuromuscular disorders in Israel: A model country for ethnic clusters
• Novel GNE mutations in three Chinese patients with typical GNE myo-pathy
• Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease
• Pharmacokinetics and clinical efficacy of 6'-sialyllactose in patients with GNE myopathy: Randomized pilot trial
• Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan
• 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
• Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy
• Progression of GNE Myopathy Based on the Patient-Reported Outcome
• Pseudoexon activation by deep intronic variation in GNE myopathy with thrombocytopenia
• Quantification of lectin fluorescence in GNE myopathy muscle biopsies
• Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
• Recent advances in establishing a cure for GNE myopathy
• Recessive <em>GNE</em> Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
• Recessive GNE Mutations in Korean Nonaka Distal Myopathy Patients with or without Peripheral Neuropathy
• Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)
• Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy
• Role of HSP70 chaperone in protein aggregate phenomenon of GNE mutant cells: Therapeutic lead for GNE Myopathy
• Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
• Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy
• Slowly progressive distal muscle weakness: neuropathy or myopathy?
• Sporadic Inclusion Body Myositis and Other Rimmed Vacuolar Myopathies
• Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model
• Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts
• Synthesis of 2-Acetamido-1,3,4-Tri-O-Acetyl-2-Deoxy-D-Mannopyranose -6-Phosphate Prodrugs as Potential Therapeutic Agents
• Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders
• Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of <em>N</em>-Acetylmannosamine 6-Phosphate
• Targeting GNE Myopathy: A Dual Prodrug Approach for the Delivery of N-Acetylmannosamine 6-Phosphate
• The Arabidopsis RRM domain proteins EDM3 and IBM2 coordinate the floral transition and basal immune responses
• The Inherited Neuromuscular Disorder GNE Myopathy: Research to Patient Care
• The role of amyloid beta in the pathological mechanism of GNE myopathy
• The role of amyloid β in the pathological mechanism of GNE myopathy
• Therapeutic development for GNE myopathy.
• Thigh and Leg Muscle MRI Findings in GNE Myopathy
• Tissue-specific isoform expression of GNE gene in human tissues
• Understanding pathophysiology of GNE myopathy and current progress towards drug development
• Updated size index valid for both neurogenic and myogenic changes
• Upper body involvement in GNE myopathy assessed by muscle imaging
• Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype
• Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches