Associated Papers
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
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
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 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
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
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