A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations-Reference-Cited by-同舟云学术

A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

Published:2020 Issue:2 Volume:16 Page:338
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Han Ji Yeon¹^ORCID,Kim Soo Yeon¹^ORCID,Cheon Jung-Eun²^ORCID,Choi Murim³^ORCID,Lee Jin Sook⁴^ORCID,Chae Jong-Hee¹^ORCID

Affiliation:

1. Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

2. Department of Radiology, Seoul National University College of Medicine, Seoul, Korea.

3. Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.

4. Department of Pediatrics, Gachon Institute of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.

Funder

National Research Foundation of Korea

Korea Health Industry Development Institute

Publisher

Korean Neurological Association

Subject

Neurology (clinical),Neurology

Link

https://www.thejcn.com/pdf/10.3988/jcn.2020.16.2.338

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Distinct Interaction Modes for the Eukaryotic RNA Polymerase Alpha-like Subunits;Molecular and Cellular Biology;2023-05-24

2. Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease;Frontiers in Pediatrics;2022-05-24

3. The First Korean Siblings With Adult-Onset 4H Leukodystrophy Related to Nonsynonymous POLR3B Mutations;Neurology Genetics;2022-04-13

4. Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia;International Journal of Molecular Sciences;2021-03-15