ArticleNeurology. Genetics2020
4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis.
Abstract read
In one paragraph
Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
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
9 citing papers in PubMed.
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.Biomolecules · 2024Review
- Novel Pathogenic Variants inHuman mutation · 2024Article
- Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants inJournal of medical genetics · 2023Article
- RNA Polymerases I and III in development and disease.Seminars in cell & developmental biology · 2023Review
- RNA Polymerase III Subunit Mutations in Genetic Diseases.Frontiers in molecular biosciences · 2021Review
- POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?Faculty reviews · 2021Review
- 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype.American journal of medical genetics. Part A · 2020Article
- POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.Frontiers in cellular neuroscience · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Stephanie M DeGasperisFaculty of Medicine (S.M.D., D.P.), University of Ottawa, ON, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics (G.B.), McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center; MyeliNeuroGene Laboratory (G.B.), Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology (N.I.W.), Emma Children's Hospital, Amsterdam, Netherlands; Amsterdam Neuroscience (N.I.W.), Vrije Universiteit, Netherlands; and Department of Medical Imaging (E.M.) and Division of Neurology (D.P.), CHEO, University of Ottawa, ON, Canada.ORCID 0000-0002-1529-0990
Geneviève BernardFaculty of Medicine (S.M.D., D.P.), University of Ottawa, ON, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics (G.B.), McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center; MyeliNeuroGene Laboratory (G.B.), Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology (N.I.W.), Emma Children's Hospital, Amsterdam, Netherlands; Amsterdam Neuroscience (N.I.W.), Vrije Universiteit, Netherlands; and Department of Medical Imaging (E.M.) and Division of Neurology (D.P.), CHEO, University of Ottawa, ON, Canada.ORCID 0000-0002-9634-2966
Nicole I WolfFaculty of Medicine (S.M.D., D.P.), University of Ottawa, ON, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics (G.B.), McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center; MyeliNeuroGene Laboratory (G.B.), Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology (N.I.W.), Emma Children's Hospital, Amsterdam, Netherlands; Amsterdam Neuroscience (N.I.W.), Vrije Universiteit, Netherlands; and Department of Medical Imaging (E.M.) and Division of Neurology (D.P.), CHEO, University of Ottawa, ON, Canada.ORCID 0000-0003-1721-0728
Elka MillerFaculty of Medicine (S.M.D., D.P.), University of Ottawa, ON, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics (G.B.), McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center; MyeliNeuroGene Laboratory (G.B.), Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology (N.I.W.), Emma Children's Hospital, Amsterdam, Netherlands; Amsterdam Neuroscience (N.I.W.), Vrije Universiteit, Netherlands; and Department of Medical Imaging (E.M.) and Division of Neurology (D.P.), CHEO, University of Ottawa, ON, Canada.ORCID 0000-0003-1075-5952
Daniela PohlFaculty of Medicine (S.M.D., D.P.), University of Ottawa, ON, Canada; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics (G.B.), McGill University; Department Specialized Medicine (G.B.), Division of Medical Genetics, McGill University Health Center; Child Health and Human Development Program (G.B.), Research Institute of the McGill University Health Center; MyeliNeuroGene Laboratory (G.B.), Research Institute of the McGill University Health Center, Montreal, Quebec, Canada; Department of Pediatric Neurology (N.I.W.), Emma Children's Hospital, Amsterdam, Netherlands; Amsterdam Neuroscience (N.I.W.), Vrije Universiteit, Netherlands; and Department of Medical Imaging (E.M.) and Division of Neurology (D.P.), CHEO, University of Ottawa, ON, Canada.ORCID 0000-0002-2996-7210
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.