Associated Papers
A strategy of microglia replacement alleviates microgliopathy in a CSF1R I794T hotspot mutation mouse model of CSF1R-related disorder.
Li X et al.
Cell Reports. Medicine, 2026
CSF1R mutations in an Italian population of early-onset dementia: a case series.
Pancaldi B et al.
Journal of Neurology, 2026
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.
Mima Y et al.
Internal Medicine (tokyo, Japan), 2026
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
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 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
Microglia replacement halts the progression of microgliopathy in mice and humans.
Wu J et al.
Science (new York, N.y.), 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
Evaluation of Soluble Colony Stimulating Factor 1 Receptor (CSF1R) in Peripheral Blood as a Diagnostic Marker of CSF1R-Related Disorder (CSF1R-RD) in a Murine Model and CSF1R-RD Patients.
Hu B et al.
Annals of Neurology, 2025
Rescue of in vitro models of CSF1R-related adult-onset leukodystrophy by iluzanebart: mechanisms and therapeutic implications of TREM2 agonism.
Larson KC et al.
Journal of Neuroinflammation, 2025
Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
Mao C et al.
Journal of Molecular Neuroscience : Mn, 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
A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the human CSF1R gene.
Malhotra P et al.
Molecular Biology Research Communications, 2025
Case Report: A pharmacist-led precision therapy framework for managing invasive fungal infection in CSF1R-Related leukoencephalopathy post Allo-HSCT.
Lu J et al.
Frontiers in Pharmacology, 2025
The effect of a dominant kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology.
Stables J et al.
Neurobiology of Disease, 2024
Heterozygous missense CSF1R variants hamper in vitro CD34+-derived dendritic cell generation but not in vivo dendritic cell development.
Beerepoot S et al.
Molecular Immunology, 2024
Spectrum of Leukodystrophy and Genetic Leukoencephalopathy in Indian Population Diagnosed by Clinical Exome Sequencing and Clinical Utility.
Manisha KY et al.
Neurology. Genetics, 2024
Global Presence and Penetrance of CSF1R-Related Disorder.
Dulski J et al.
Neurology. Genetics, 2024
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP): Estimation of pathological lesion stage from brain images.
Kinoshita M et al.
Journal of the Neurological Sciences, 2024
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
CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.
Dulski J et al.
Parkinsonism & Related Disorders, 2024
Adult-onset leukoencephalopathy with persistent diffusion restriction dot lesions.
Wu D et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Ishiguro T et al.
European Journal of Neurology, 2023
Adult-onset leukoencephalopathy with axonal spheroids and pigmental glia with diffuse cerebral microbleeds: case report.
Ishikawa R et al.
Acta Neurologica Belgica, 2023
Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions.
Dulski J et al.
Neurologia I Neurochirurgia Polska, 2023
Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes.
Dulski J et al.
Pharmaceutics, 2022
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Alien-hand syndrome with mirror movements in hereditary diffuse leukoencephalopathy with spheroids.
Dongre N et al.
Practical Neurology, 2022
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.
Rosenstein I et al.
Acta Neurologica Scandinavica, 2022
A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.
Stables J et al.
Development (cambridge, England), 2022
Generation of an human induced pluripotent stem cell JTUi007-A from a patient with CSF1R-related leukoencephalopathy carrying heterozygous p.Ile794Thr mutation in CSF1R gene.
Wu J et al.
Stem Cell Research, 2021
Three novel mutations in Chinese patients with CSF1R-related leukoencephalopathy.
Chu M et al.
Annals of Translational Medicine, 2021
Altered structural and functional connectivity in CSF1R-related leukoencephalopathy.
Zhan FX et al.
Brain Imaging and Behavior, 2021
Teaching NeuroImages: Rare Adult-Onset Genetic Leukoencephalopathy.
Rudrabhatla P et al.
Neurology, 2021
Proteolytic Shedding of Human Colony-Stimulating Factor 1 Receptor and its implication.
Wei Y et al.
Journal of Cellular and Molecular Medicine, 2021
Analysis of homozygous and heterozygous Csf1r knockout in the rat as a model for understanding microglial function in brain development and the impacts of human CSF1R mutations.
Patkar OL et al.
Neurobiology of Disease, 2021
Insights Into the Role of CSF1R in the Central Nervous System and Neurological Disorders.
Hu B et al.
Frontiers in Aging Neuroscience, 2021
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration.
Tamhankar PM et al.
Neuropediatrics, 2020
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Xie JJ et al.
Cns Neuroscience & Therapeutics, 2020
Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Mao C et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020
A proposed synergistic effect of CSF1R and NMUR2 variants contributes to binge eating in hereditary diffuse leukoencephalopathy with spheroids.
Liu Q et al.
Annals of Translational Medicine, 2020