Associated Papers
Clinical and Pathological Features of CSF1R-Related Disorder Associated with the p.R777Q Pathogenic Variant.
Chmiela T et al.
Journal of Movement Disorders, 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
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
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
Global Presence and Penetrance of CSF1R-Related Disorder.
Dulski J et al.
Neurology. Genetics, 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
Four Swedish cases of CSF1R-related leukoencephalopathy: Visualization of clinical phenotypes.
Rosenstein I et al.
Acta Neurologica Scandinavica, 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
Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia mimicking systemic lupus erythematosus cerebral vasculitis.
Lubomski M et al.
Journal of the Neurological Sciences, 2018
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 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
Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).
Hoffmann S et al.
Brain Pathology (zurich, Switzerland), 2014
[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 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
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R et al.
Jama 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