Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
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TREM2 in CNS homeostasis and neurodegenerative diseaseDifferential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosisInsight on Mutation-Induced Resistance from Molecular Dynamics Simulations of the Native and Mutated CSF-1R and KITThe CSF-1 receptor ligands IL-34 and CSF-1 exhibit distinct developmental brain expression patterns and regulate neural progenitor cell maintenance and maturationHereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy seriesThe M1 and M2 paradigm of macrophage activation: time for reassessmentMacrophage biology in development, homeostasis and diseaseAdult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.Impact of the next-generation sequencing data depth on various biological result inferences.Insights into TREM2 biology by network analysis of human brain gene expression data.Enlarging the nosological spectrum of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.Charting Frontotemporal Dementia: From Genes to Networks.Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophyClinical and genetic characterization of leukoencephalopathies in adults.CSF-1 receptor signaling in myeloid cellsBiochemical markers of neurodegeneration in hereditary diffuse leucoencephalopathy with spheroids.The Pathophysiological Role of Microglia in Dynamic Surveillance, Phagocytosis and Structural Remodeling of the Developing CNS.Regulation of Embryonic and Postnatal Development by the CSF-1 Receptor.Promotion of Tumor Invasion by Tumor-Associated Macrophages: The Role of CSF-1-Activated Phosphatidylinositol 3 Kinase and Src Family Kinase Motility Signaling.Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.Systemic inflammation and the brain: novel roles of genetic, molecular, and environmental cues as drivers of neurodegeneration.Host microbiota constantly control maturation and function of microglia in the CNS.A Comprehensive Profile of ChIP-Seq-Based PU.1/Spi1 Target Genes in MicrogliaRare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosisPhenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP).Differential effects of CSF-1R D802V and KIT D816V homologous mutations on receptor tertiary structure and allosteric communicationThe MAPK ERK5, but not ERK1/2, inhibits the progression of monocytic phenotype to the functioning macrophage.Characterizing newly repopulated microglia in the adult mouse: impacts on animal behavior, cell morphology, and neuroinflammation.Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.USP18 lack in microglia causes destructive interferonopathy of the mouse brain.Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.The use of next-generation sequencing in movement disordersInvolvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.MRI characteristics and scoring in HDLS due to CSF1R gene mutations.R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia
P2860
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P2860
Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Mutations in the colony stimul ...... encephalopathy with spheroids.
@ast
Mutations in the colony stimul ...... encephalopathy with spheroids.
@en
type
label
Mutations in the colony stimul ...... encephalopathy with spheroids.
@ast
Mutations in the colony stimul ...... encephalopathy with spheroids.
@en
prefLabel
Mutations in the colony stimul ...... encephalopathy with spheroids.
@ast
Mutations in the colony stimul ...... encephalopathy with spheroids.
@en
P2093
P2860
P50
P356
P1433
P1476
Mutations in the colony stimul ...... encephalopathy with spheroids.
@en
P2093
Aleksandra Wojtas
Alexandra M Nicholson
Alexandra Soto-Ortolaza
Alexandros C Tselis
Bernardino Ghetti
Bradley B Miller
Bradley F Boeve
Christian Wider
Christina Sundal
Daniel F Broderick
P2860
P2888
P304
P356
10.1038/NG.1027
P407
P50
P577
2011-12-25T00:00:00Z