Associated Papers
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
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
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
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
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
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
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
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.
Rosenstein I et al.
Acta Neurologica Scandinavica, 2022
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
Hereditary diffuse leukoencephalopathy with spheroids mimicking primary progressive aphasia: report of a Greek case.
Stoiloudis P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 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 (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
Clinical and genetic characterization of leukoencephalopathies in adults.
Lynch DS et al.
Brain : a Journal of Neurology, 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
Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.
Shu Y et al.
Bmc 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
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
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.
Foulds N et al.
Scientific Reports, 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
Corpus callosum atrophy in patients with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids: an MRI-based study.
Kinoshita M et al.
Internal Medicine (tokyo, Japan), 2014
[Clinical and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy with spheroids (HDLS)].
Ikeuchi T
Rinsho Shinkeigaku = Clinical Neurology, 2014
A clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases.
Kimura T et al.
Neuropathology and Applied Neurobiology, 2013
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
Pridans C et al.
Scientific Reports, 2013
CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson AM et al.
Neurology, 2013
Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.
Kondo Y et al.
Internal Medicine (tokyo, Japan), 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
Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.
Kinoshita M et al.
Journal of the Neurological Sciences, 2012
[Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): its clinical concept and the review of the previously reported cases].
Ikeda S
Rinsho Shinkeigaku = Clinical Neurology, 2012