Observational studyNeurology2021
Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy.
2 registry-linked trialsOpen access · greenAbstract readObservational Study
In one paragraph
Observational study in Neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 20 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
3.1field-weighted citation impact, top 7% of its field
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.
A Natural History Study of Patients With GNE Myopathy and GNE-Related Diseases
Mercuri Analysis Contribution on Handicap Evaluation in ArthrogypOsis, a Congenital Neuromuscular Disease
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- A systematic approach to MR spectroscopy of the brain: Indications, protocol, metabolites, and spectral analysis in neurologic diseases.The neuroradiology journal · 2026Review
- Clinical, pathological and genetic characteristics of GNE myopathy: a single-center observational study.BMC musculoskeletal disorders · 2025Observational
- Decoding GNE Myopathy: From Molecular Basis to Therapeutic Advances.Annals of Indian Academy of Neurology · 2025Article
- Myo-Guide: A Machine Learning-Based Web Application for Neuromuscular Disease Diagnosis With MRI.Journal of cachexia, sarcopenia and muscle · 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
- Multi-parameter quantitative magnetic resonance imaging for early detecting skeletal muscle involvement and predicting functional decline in children with Becker muscular dystrophy.Pediatric radiology · 2025Article
- Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy.Molecules (Basel, Switzerland) · 2024Article
- Longitudinal changes in magnetic resonance imaging biomarkers of the gluteal muscle groups and functional ability in Duchenne muscular dystrophy: a 12-month cohort study.Pediatric radiology · 2023Article
- Sex-specific associations in multiparametric 3 T MRI measurements in adult livers.Abdominal radiology (New York) · 2023Article
- Clinical utilisation of multimodal quantitative magnetic resonance imaging in investigating muscular damage in Duchenne muscular dystrophy: a study on the association between gluteal muscle groups and motor function.Pediatric radiology · 2023Article
- Longitudinal study of multi-parameter quantitative magnetic resonance imaging in Duchenne muscular dystrophy: hyperresponsiveness of gluteus maximus and detection of subclinical disease progression in functionally stable patients.Journal of neurology · 2023Article
- Glycation Interferes with the Activity of the Bi-Functional UDP-Biomolecules · 2023Article
- Biomarkers: Promising and valuable tools towards diagnosis, prognosis and treatment of Covid-19 and other diseases.Heliyon · 2023Review
- Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.Frontiers in neurology · 2023Article
- The role of amyloid β in the pathological mechanism of GNE myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Article
- 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
- Utilization of T1-Mapping for the pelvic and thigh muscles in Duchenne Muscular Dystrophy: a quantitative biomarker for disease involvement and correlation with clinical assessments.BMC musculoskeletal disorders · 2022Article
- GNE myopathy: History, etiology, and treatment trials.Frontiers in neurology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Chia-Ying LiuFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.ORCID 0000-0002-6408-9089
Jianhua YaoFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.
William C KovacsFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.
Joseph A ShraderFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.
Galen JoeFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.
Ronald OuwerkerkFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.ORCID 0000-0003-3882-9757
Ami K MankodiFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.
William A GahlFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.ORCID 0000-0002-2494-6752
Ronald M SummersFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD.ORCID 0000-0001-8081-7376
Nuria CarrilloFrom Radiology and Imaging Sciences (C.-Y.L., J.Y., W.C.K., R.M.S.) and Rehabilitation Medicine Department (J.A.S., G.J.), Clinical Center, National Institute of Diabetes and Digestive and Kidney Diseases (R.O.), Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (A.K.M.), and Medical Genetics Branch, National Human Genome Research Institute (W.A.G., N.C.), NIH, Bethesda, MD. nuri.carrillo@gmail.com.ORCID 0000-0003-0374-0808
National Institute of Diabetes and Digestive and Kidney Diseases · US
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MHereditary Muscle Disease UnitZIANS003131 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI MANKODI, AMI · 2012 to 2023
$11.7MComputer Aided Detection for Radiologic ImagesZIACL040004 · CLC · CLINICAL CENTER · PI SUMMERS, RONALD M. · 2009 to 2025
$0kAbstract
objectiveTo characterize muscle involvement and evaluate disease severity in patients with GNE myopathy using skeletal muscle MRI and proton magnetic resonance spectroscopy (
methodsSkeletal muscle imaging of the lower extremities was performed in 31 patients with genetically confirmed GNE myopathy, including T1-weighted and short tau inversion recovery (STIR) images, T1 and T2 mapping, and
resultsThe cohort was representative of a wide range of disease progression. Contractile thigh muscle volume ranged from 5.51% to 62.95% and correlated with thigh strength (
conclusionMRI biomarkers can monitor muscle involvement and determine disease severity noninvasively in patients with GNE myopathy. CLINICALTRIALSGOV IDENTIFIER: NCT01417533.
Indexed as
Lipid MetabolismMuscle StrengthAdultAgedDisease ProgressionDistal MyopathiesFemaleHamstring MusclesHumansLegLipidsMagnetic Resonance ImagingMaleMiddle AgedMultienzyme ComplexesMuscle, SkeletalLipidsMultienzyme ComplexesUDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
Identifiers
What OpenQuestion holds
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Read underepoch 390
Registered trials
NCT01417533ClinicalTrials.gov
NCT05137756ClinicalTrials.gov
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.