Associated Papers
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.
Fisher KS et al.
Epilepsia, 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
Movement Disorders in CSF1R -Related Leukoencephalopathy: A Case Series.
Kamble N et al.
Annals of Indian Academy of Neurology, 2025
CSF1R-Related Adult-Onset Leukoencephalopathy With Axonal Spheroids: A Case Series of Four Asian Indian Patients.
Garg D et al.
Journal of Movement Disorders, 2025
Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
Mao C et al.
Journal of Molecular Neuroscience : Mn, 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
Global Presence and Penetrance of CSF1R-Related Disorder.
Dulski J et al.
Neurology. Genetics, 2024
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies.
Serrano PL et al.
Current Issues in Molecular Biology, 2024
The Phenotypic and Genotypic Spectrum of CSF1R-Related Disorder in China.
Wu J et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.
Ishiguro T et al.
European Journal of Neurology, 2023
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
Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions.
Dulski J et al.
Neurologia I Neurochirurgia Polska, 2023
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
Handwriting impairment in a case of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia caused by a novel mutation in the CSF1R gene.
Tsai MC et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
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
Myelopathy in a patient with leukodystrophy due to CSF1R mutation.
Ho VM et al.
Neurology. Genetics, 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
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 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
MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.
Abe T et al.
Magnetic Resonance in Medical Sciences : Mrms : an Official Journal of Japan Society of Magnetic Resonance in Medicine, 2017
CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.
Daida K et al.
Internal Medicine (tokyo, Japan), 2017
Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
Konno T et al.
Ajnr. American Journal of Neuroradiology, 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