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
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult-Onset Leukoencephalopathy.
Lopriore P et al.
American Journal of Medical Genetics. Part A, 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
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
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 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
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
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
From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.
Guo L et al.
Journal of Human Genetics, 2021
Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground.
Tipton PW et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
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
Recent Advances in Basic Research for CSF1R-Microglial Encephalopathy.
Wang YL et al.
Frontiers in Aging Neuroscience, 2021
Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development.
Papapetropoulos S et al.
Frontiers in Neurology, 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
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 (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
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 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
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
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.
Robinson JL et al.
Acta Neuropathologica Communications, 2015
[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].
Schuberth M et al.
Der Nervenarzt, 2014
Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.
Konno T et al.
Neurology, 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
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R et al.
Jama Neurology, 2013
CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson AM et al.
Neurology, 2013
CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
Mitsui J et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2012
The use of next-generation sequencing in movement disorders.
Krebs CE et al.
Frontiers in Genetics, 2012
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R et al.
Nature Genetics, 2011