Associated Papers
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
Progressive dementia and seizures as distinguishing features in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Kim YJ et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Clinical spectrum of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia in individuals of Korean ancestry.
Kim JR et al.
Scientific Reports, 2025
Distinct patterns of white matter hyperintensity and cortical thickness of CSF1R-related leukoencephalopathy compared with subcortical ischemic vascular dementia.
Kim SJ et al.
Plos One, 2024
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Guo L et al.
Journal of Human Genetics, 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
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
A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids.
Yang X et al.
Frontiers in Genetics, 2019
Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Miura T et al.
Journal of Neurology, 2018
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