Associated Papers
Uncommon yet impactful - case-based reflections on rare neurologic disorders.
Chmiela T et al.
Neurologia I Neurochirurgia Polska, 2025
CSF1R-related disorder: A clinical, imaging and genetic profile review.
Mahale RR et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
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
Adult-Onset Leukoencephalopathy with Axonal Spheroid and Pigmented Glia: Different Histological Spectrums Presented in Autopsy Cases of Siblings and a Surgical Case of Stereotactic Biopsy.
Kwon HJ et al.
Diagnostics (basel, Switzerland), 2023
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.
Rosenstein I et al.
Acta Neurologica Scandinavica, 2022
Clinical and genetic characterization of adult-onset leukoencephalopathy caused by CSF1R mutations.
Tsai PC et al.
Annals of Clinical and Translational Neurology, 2021
Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.
Hu B et al.
Frontiers in Aging Neuroscience, 2021
34867307 (PubMed )
Supplement: Table_1.pdf
Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.
Wang YL et al.
Frontiers in Aging Neuroscience, 2021
Clinical features and genetic characteristics of hereditary diffuse leukoencephalopathy with spheroids due to CSF1R mutation: a case report and literature review.
Zhuang LP et al.
Annals of Translational Medicine, 2020
CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.
Konno T et al.
Neurology, 2018
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