Associated Papers
Inherited white matter disorders in Japan: focusing on demyelinating leukodystrophy.
Sasaki M
Brain & Development, 2025
Clinical, neuroimaging and genetic findings in the Japanese case series of CLCN2-related leukoencephalopathy.
Orimo K et al.
Journal of the Neurological Sciences, 2025
[Genetic analysis of a child with Leukoencephalopathy with ataxia caused by a homozygous variant of CLCN2 gene and a literature review].
Zhou Z et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
Efficient variant phasing utilizing a replication cycle reaction system.
Mitsutake A et al.
Genetics in Medicine Open, 2025
CLCN2-related leukoencephalopathy with novel compound heterozygous variants followed with magnetic resonance imaging over 17 years: a case report.
Ohira M et al.
Bmc Neurology, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Chloride Voltage-Gated Channel 2 (CLCN2)-Related Leukoencephalopathy Exhibiting Reduced Choline Levels on Magnetic Resonance Spectroscopy.
Ochiai K et al.
Cureus, 2024
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
Ozaki A et al.
Brain & Development, 2020
CLCN2-related leukoencephalopathy: a case report and review of the literature.
Guo Z et al.
Bmc Neurology, 2019
A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
Hoshi M et al.
Brain & Development, 2019
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
26741492 (PubMed )
Supplement: pgen.1005679.s021.xlsx › Prioritized_variants_from_exome
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