Associated Papers
Targeting astrocytic CLC2(CLCN2) restores myelin regeneration through inhibition of SPP1/CD44 signaling pathway in leukoencephalopathy.
Yang L et al.
Molecular Psychiatry, 2026
Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review.
Lee YJ et al.
Stem Cell Reviews and Reports, 2025
Ion channels research in hPSC-RPE cells: bridging benchwork to clinical applications.
Xu P et al.
Journal of Translational Medicine, 2024
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
Expanding the phenotypic spectrum of CLCN2-related leucoencephalopathy and ataxia.
Nóbrega PR et al.
Brain Communications, 2024
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.
Xu P et al.
Human Genetics, 2023
Co-occurrence of CLCN2-related leukoencephalopathy and SPG56.
Almasoudi W et al.
Clinical Parkinsonism & Related Disorders, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Generation of an iPSC line (SKLOi001-A) from a patient with CLCN2-related leukoencephalopathy.
Chen Z et al.
Stem Cell Research, 2020
CLCN2-related leukoencephalopathy: a case report and review of the literature.
Guo Z et al.
Bmc Neurology, 2019
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