CSF1R mutations link POLD and HDLS as a single disease entity. - Wikidata - awgldk - TriplyDB

CSF1R mutations link POLD and HDLS as a single disease entity.

CSF1R mutations link POLD and HDLS as a single disease entity.

http://www.wikidata.org/entity/Q36841490

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Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series Regulation of microglial survival and proliferation in health and diseases.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.Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy CSF-1 receptor signaling in myeloid cells Regulation of Embryonic and Postnatal Development by the CSF-1 Receptor.The pallidopyramidal syndromes: nosology, aetiology and pathogenesis.Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP).Characterizing newly repopulated microglia in the adult mouse: impacts on animal behavior, cell morphology, and neuroinflammation.Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.TREM2 regulates microglial cell activation in response to demyelination in vivo.The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease.Emerging Roles for CSF-1 Receptor and its Ligands in the Nervous System.An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders.Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Microglial priming in neurodegenerative disease.Microglial Interferon Signaling and White Matter.A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation.CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Pathologic Correlation of Paramagnetic White Matter Lesions in Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.A novel autosomal dominant leukodystrophy with specific MRI pattern.The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.Adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) and Nasu-Hakola disease: lesion staging and dynamic changes of axons and microglial subsets.Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).MRI pattern approach of adult-onset inherited leukoencephalopathies.Neuroaxonal Dystrophy and Cavitating Leukoencephalopathy of Chihuahua Dogs.A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression.Pleiotropic Impacts of Macrophage and Microglial Deficiency on Development in Rats with Targeted Mutation of the Locus Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

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P2860

CSF1R mutations link POLD and HDLS as a single disease entity.

http://www.wikidata.org/entity/Q36841490

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2013 nî lūn-bûn

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name

CSF1R mutations link POLD and HDLS as a single disease entity.

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CSF1R mutations link POLD and HDLS as a single disease entity.

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CSF1R mutations link POLD and HDLS as a single disease entity.

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P1476

CSF1R mutations link POLD and HDLS as a single disease entity.

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P2093

Alexandra M Nicholson

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Christian Wider

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H Brent Clark

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Matt C Baker

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Neill R Graff-Radford

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Nicola J Rutherford

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Nicole A Finch

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Peter T Nelson

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P2860

Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature.

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

Adult pigment type (Peiffer) of sudanophilic leukodystrophy. Pathological and morphometrical studies on two autopsy cases of siblings.

Hereditary diffuse leucoencephalopathy with spheroids.

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity.

CSF-1 regulation of the wandering macrophage: complexity in action.

MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

Microarray analysis of RNA processing and modification.

The dominant form of the pigmentary orthochromatic leukodystrophy.

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1033-1040

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10.1212/WNL.0B013E31828726A7

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11

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Rosa Rademakers

Dennis W. Dickson

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Zbigniew K Wszolek

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23408870

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