Associated Papers
Integrating evidence from protein domains to identify cancer driver mutations.
Ostroverkhova D et al.
Protein Science : a Publication of the Protein Society, 2026
Apolipoprotein E Polymorphism Is Associated with Age of Onset and Neuropathology in Colony Stimulating Factor 1 Receptor-Related Disorder.
Chmiela T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2026
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
Colony-stimulating factor-1 receptor-related disorder in the Hispanic population.
Chmiela TM et al.
Parkinsonism & Related Disorders, 2025
Microglia replacement halts the progression of microgliopathy in mice and humans.
Wu J et al.
Science (new York, N.y.), 2025
Clinical Diagnosis and Differential Diagnosis Between CSF1R- and AARS2-Related Leukoencephalopathy.
Mao C et al.
Journal of Molecular Neuroscience : Mn, 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
The effect of a dominant kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy on brain development and neuropathology.
Stables J et al.
Neurobiology of Disease, 2024
Therapeutic potential of human microglia transplantation in a chimeric model of CSF1R-related leukoencephalopathy.
Chadarevian JP et al.
Neuron, 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
An adapted protocol to derive microglia from stem cells and its application in the study of CSF1R-related disorders.
Dorion MF et al.
Molecular Neurodegeneration, 2024
CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.
Dulski J et al.
Parkinsonism & Related Disorders, 2024
Modeling CSF-1 receptor deficiency diseases - how close are we?
Chitu V et al.
The Febs Journal, 2022
A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.
Stables J et al.
Development (cambridge, England), 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
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
KinaseMD: kinase mutations and drug response database.
Hu R et al.
Nucleic Acids Research, 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
Hereditary leukodystrophy with axonal spheroids (HDLS) presenting subacutely: a CNS-vasculitis mimic.
Bayat M et al.
Acta Neurologica Belgica, 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 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
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.
Pridans C et al.
Scientific Reports, 2013
Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.
Guerreiro R et al.
Jama Neurology, 2013
CSF1R mutations link POLD and HDLS as a single disease entity.
Nicholson AM et al.
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
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
Rademakers R et al.
Nature Genetics, 2011