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
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
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
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Identification of a de novo splicing mutation in the CSF1R gene in a Chinese patient with hereditary diffuse leukoencephalopathy with spheroids.
Wu X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
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
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
Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.
Oyanagi K et al.
Brain Pathology (zurich, Switzerland), 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
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 new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.
Inui T et al.
Journal of the Neurological Sciences, 2013
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
Pridans C et al.
Scientific Reports, 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 mutation presenting as dementia with Lewy bodies.
Sharma R et al.
Neurocase, 0