Associated Papers
Apolipoprotein E Polymorphism Is Associated with Age of Onset and Neuropathology in Colony Stimulating Factor 1 Receptor-Related Disorder.
Chmiela T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
CSF1R-related leukoencephalopathy presenting with early apathy, hypoactivity, and cognitive flattening: a case report of a diagnostic challenge.
Yang W et al.
Frontiers in Human Neuroscience, 2026
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
Microglia replacement halts the progression of microgliopathy in mice and humans.
Wu J et al.
Science (new York, N.y.), 2025
Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
Mao C et al.
Journal of Molecular Neuroscience : Mn, 2025
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.
Wu J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
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
Dominant-acting CSF1R variants cause microglial depletion and altered astrocytic phenotype in zebrafish and adult-onset leukodystrophy.
Berdowski WM et al.
Acta Neuropathologica, 2022
Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations.
Mickeviciute GC et al.
Journal of Internal Medicine, 2022
Gene Expression and Mutational Profile in BAP-1 Inactivated Melanocytic Lesions of Progressive Malignancy from a Patient with Multiple Lesions.
Zhou Y et al.
Genes, 2021
Altered structural and functional connectivity in CSF1R-related leukoencephalopathy.
Zhan FX et al.
Brain Imaging and Behavior, 2021
Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.
Hu B et al.
Frontiers in Aging Neuroscience, 2021
Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.
Wang YL et al.
Frontiers in Aging Neuroscience, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 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
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.
Mochel F et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
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
Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.
Tian WT et al.
Translational Neurodegeneration, 2019
CSF1R-related leukoencephalopathy: A major player in primary microgliopathies.
Konno T et al.
Neurology, 2018
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases.
Codjia P et al.
Ajnr. American Journal of Neuroradiology, 2018
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Integrating the literature on hereditary diffuse leukoencephalopathy with spheroids (HDLS) and pigmentary orthochromatic leukodystrophy (POLD).
Adams SJ et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2018
Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy.
Lakshmanan R et al.
Neurology. Genetics, 2017
Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation.
Konno T et al.
European Journal of Neurology, 2017
CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis.
Prieto-Morin C et al.
Journal of Neurology, 2016
Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.
Lynch DS et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
slan-defined subsets of CD16-positive monocytes: impact of granulomatous inflammation and M-CSF receptor mutation.
Hofer TP et al.
Blood, 2015
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia linked CSF1R mutation: Report of four Korean cases.
Kim EJ et al.
Journal of the Neurological Sciences, 2015
[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].
Schuberth M et al.
Der Nervenarzt, 2014
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
Pridans C et al.
Scientific Reports, 2013
A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.
Ahmed R et al.
Journal of the Neurological Sciences, 2013
CSF1R-related Adult-onset Leukoencephalopathy: The First Reported Case in Spain.
Moreno Loscertales C et al.
Alzheimer Disease and Associated Disorders, 0