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
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
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR et al.
Brain Communications, 2024
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W et al.
Clinical Parkinsonism & Related Disorders, 2023
A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.
Ozaki A et al.
Brain & Development, 2020
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
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