CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
Published 2013 View Full Article
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Title
CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function
Authors
Keywords
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Journal
Scientific Reports
Volume 3, Issue 1, Pages -
Publisher
Springer Nature
Online
2013-10-22
DOI
10.1038/srep03013
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Note: Only part of the references are listed.- Early Involvement of the Corpus Callosum in a Patient with Hereditary Diffuse Leukoencephalopathy with Spheroids Carrying the de novo K793T Mutation of CSF1R
- (2013) Yasufumi Kondo et al. INTERNAL MEDICINE
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- (2013) Jian Luo et al. JOURNAL OF EXPERIMENTAL MEDICINE
- A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids
- (2013) Rebekah Ahmed et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- CSF1R mutations link POLD and HDLS as a single disease entity
- (2013) A. M. Nicholson et al. NEUROLOGY
- Cloning and expression of porcine Colony Stimulating Factor-1 (CSF-1) and Colony Stimulating Factor-1 Receptor (CSF-1R) and analysis of the species specificity of stimulation by CSF-1 and Interleukin 34
- (2012) Deborah J. Gow et al. CYTOKINE
- The CSF-1 receptor ligands IL-34 and CSF-1 exhibit distinct developmental brain expression patterns and regulate neural progenitor cell maintenance and maturation
- (2012) Sayan Nandi et al. DEVELOPMENTAL BIOLOGY
- Macrophage Proliferation Is Regulated through CSF-1 Receptor Tyrosines 544, 559, and 807
- (2012) Wenfeng Yu et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: Case report
- (2012) Michiaki Kinoshita et al. JOURNAL OF THE NEUROLOGICAL SCIENCES
- FLT3 inhibition: a moving and evolving target in acute myeloid leukaemia
- (2012) A Y H Leung et al. LEUKEMIA
- Physical–chemical principles underlying RTK activation, and their implications for human disease
- (2011) Lijuan He et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
- Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot–Marie–Tooth disease type 1X
- (2011) Janos Groh et al. BRAIN
- Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
- (2011) Rosa Rademakers et al. NATURE GENETICS
- Absence of Colony Stimulation Factor-1 Receptor Results in Loss of Microglia, Disrupted Brain Development and Olfactory Deficits
- (2011) Bryna Erblich et al. PLoS One
- CSF-1 receptor structure/function in MacCsf1r-/- macrophages: regulation of proliferation, differentiation, and morphology
- (2008) Wenfeng Yu et al. JOURNAL OF LEUKOCYTE BIOLOGY
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