ArticleNeuromuscular disorders : NMD2014
GNE myopathy: new name and new mutation nomenclature.
Article in Neuromuscular disorders : NMD, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
47 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- Alternative Dosing Strategies to Enhance the Absorption of N-Acetyl-D-Mannosamine Monohydrate (ManNAc) in Healthy Adult Males.Clinical drug investigation · 2026Trial
- Impact of Food on the Oral Absorption of N-Acetyl-D-Mannosamine in Healthy Men and Women.Clinical pharmacology in drug development · 2024Trial
- GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects.Journal of clinical medicine · 2026Review
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Article
- Absolute bioavailability and intravenous pharmacokinetics of N-acetyl-D-mannosamine in humans.British journal of clinical pharmacology · 2026Article
- Molecular genetics and therapeutic development for GNE myopathy.Journal of human genetics · 2025Review
- GNE myopathy with premature ovarian failure: Case report and review of the literature.Molecular genetics and metabolism reports · 2025Article
- Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.Annals of Indian Academy of Neurology · 2025Article
- 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.Internal medicine (Tokyo, Japan) · 2025Article
- RecessiveGenes · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- GNE Myopathy: Genotype - Phenotype Correlation and Disease Progression in an Indian Cohort.Journal of neuromuscular diseases · 2024Observational
- Glycation Interferes with the Activity of the Bi-Functional UDP-Biomolecules · 2023Article
- Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.Journal of neuromuscular diseases · 2023Article
- Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy.NPJ Regenerative medicine · 2022Article
- Gene analysis and clinical features of 22 GNE myopathy patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- GNE myopathy: History, etiology, and treatment trials.Frontiers in neurology · 2022Review
- Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.Molecular neurobiology · 2021Article
Corrections and comments
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Authors and funding
8 authors.
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Abstract
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.