ArticleNeurology. Genetics2020
Open access · goldAbstract 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 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-weighted citation impact, top 45% of its field
What it found
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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.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- RNA-based discovery and correction of splicing defects caused byMolecular therapy. Nucleic acids · 2026Article
- Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits.Molecular and cellular biology · 2023Article
- Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.International journal of molecular sciences · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 1 institution in 1 country.
Hitoshi KashikiDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Heng LiDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Sachiko MiyamotoDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.ORCID 0000-0003-2124-4795
Hiroe UenoDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Yoshinori TsurusakiDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Chizuru IkedaDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Hirofumi KurataDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Takumi OkadaDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Tomoyuki ShimazuDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Hoseki ImamuraDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Yumi EnomotoDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Jun-Ichi TakanashiDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.ORCID 0000-0002-1147-1938
Kenji KurosawaDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Hirotomo SaitsuDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.ORCID 0000-0003-0723-0960
Ken InoueDepartment of Pediatrics (H.K.), Minamata City General Hospital & Medical Center, Kumamoto; Department of Mental Retardation and Birth Defect Research (H.L., K.I.), National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo; Department of Biochemistry (S.M., H.S.), Hamamatsu University School of Medicine, Shizuoka; Department of Pediatrics (H.U.), Kumamoto Takumadai Rehabilitation Hospital; Kanagawa Children's Medical Center (Y.T., Y.E.), Clinical Research Institute, Yokohama, Kanagawa; Department of Pediatrics (C.I., H.K., T.O., T.S., H.I.), National Hospital Organization Kumamoto Saishun Medical Center, Koshi; Clinical Research Institute, Kanagawa Children's Medical Center, (Y.E.), Yokohama, Kanagawa; Department of Pediatric Neurology (J.T.), Tokyo Women's Medical University Yachiyo Medical Center, Chiba; and Division of Medical Genetics (K.K.), Kanagawa Children's Medical Center, Yokohama, Japan.
Hamamatsu University School of Medicine · JP
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo further clarify the molecular pathogenesis of RNA polymerase III (Pol III)-related leukodystrophy caused by biallelic
methodsExome analysis and molecular functional studies using cell expression and long-read sequencing analyses were performed on 1 family with hypomyelinating leukodystrophy showing no clinical and MRI findings characteristic of Pol III-related leukodystrophy other than hypomyelination.
resultsBiallelic novel
conclusionsThe lack of characteristic clinical findings in this family confirmed the broad clinical spectrum of Pol III-related leukodystrophy. Molecular studies suggested that dysregulation of splicing is the potential downstream pathomechanism for
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