ArticleNeurology. Genetics2019
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 11% 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Ultra-Orphan drug development for GNE Myopathy: A synthetic literature review and meta-analysis.Journal of neuromuscular diseases · 2025Pooled it
- Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.Orphanet journal of rare diseases · 2023Trial
- Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy.Muscle & nerve · 2026Article
- GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects.Journal of clinical medicine · 2026Review
- Article
- Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.Journal of neuromuscular diseases · 2023Article
- Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.Scientific reports · 2022Article
- 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
- Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.Nature communications · 2022Article
- GNE myopathy: History, etiology, and treatment trials.Frontiers in neurology · 2022Review
- Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy.Journal of neuromuscular diseases · 2022Article
- Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics.Molecular neurobiology · 2021Article
- Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Journal of cellular and molecular medicine · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Congenital myopathies in the adult neuromuscular clinic: Diagnostic challenges and pitfalls.Neurology. Genetics · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 3 countries.
Oksana PogoryelovaInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Ian J WilsonInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Hank MansbachInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Zohar ArgovInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Ichizo NishinoInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
Hanns LochmüllerInstitute of Genetic Medicine (O.P., I.J.W.), Newcastle University, Newcastle upon Tyne, United Kingdom; Ultragenyx Pharmaceutical (H.M.), CA; Department of Neurology (Z.A.), Hadassah-Hebrew University Medical Center, Jerusalem, Israel; Department of Neuromuscular Research (I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan; Department of Neuropediatrics and Muscle Disorders (H.L.), Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany; Centro Nacional de Análisis Genómico (CNAG-CRG) (H.L.), Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST), Barcelona, Catalonia, Spain; and Children's Hospital of Eastern Ontario Research Institute (H.L.), University of Ottawa, Ottawa, Canada and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.
National Center of Neurology and Psychiatry · JPHadassah Medical Center · IL
Funding
Medical Research Council G1002274
Abstract
objectiveTo test the hypothesis that common
methodsSystematic literature review identified 11 articles reporting 759 patients. GNE registry data were used as a second data set. The relative contributions of the
resultsA spectrum of symptoms and large variability of age at onset and nonambulatory status was observed within families and cohorts. We estimated that 20% of variability is explained by
conclusionsGNE myopathy severity significantly varies in all cohorts, with 20% of variability explained by the
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
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.