MRI characteristics and scoring in HDLS due to CSF1R gene mutations. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q36146920

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Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis Phenotypic characterization of a Csf1r haploinsufficient mouse model of adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP).Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids.Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.CSF1R mutations link POLD and HDLS as a single disease entity.Capecitabine-induced leukoencephalopathy involving the bilateral corticospinal tracts Emerging Roles for CSF-1 Receptor and its Ligands in the Nervous System.A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.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.MR Spectroscopy in Patients with Hereditary Diffuse Leukoencephalopathy with Spheroids and Asymptomatic Carriers of Colony-stimulating Factor 1 Receptor Mutation.Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.Different stages of white matter changes in the original HDLS family revealed by advanced MRI techniques.A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis.Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.Sporadic Cases with Novel Mutations and Pedigree in Hereditary Leukoencephalopathy with Axonal Spheroids.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).Hereditary diffuse leukoencephalopathy with spheroids - a volumetric and radiological comparison with multiple sclerosis patients and healthy controls.Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].A novel A792D mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids characterized by slow progression.A practical approach to diagnosing adult onset leukodystrophies 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

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

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2012年の論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

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

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

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

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

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

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

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

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Alex Tselis

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Alexandra M Nicholson

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Anne Borjesson-Hanson

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James Garbern

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P2860

Globoid cell leukodystrophy: distinguishing early-onset from late-onset disease using a brain MR imaging scoring method.

Rapid onset frontal leukodystrophy with decreased diffusion coefficient and neuroaxonal spheroids.

White matter disorders with autosomal dominant heredity: a review with personal clinical case studies and their MRI findings.

Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids

Magnetic resonance imaging in cerebral small vessel disease and its use as a surrogate disease marker.

Adrenoleukodystrophy: a scoring method for brain MR observations.

Sporadic adult-onset leukoencephalopathy with neuroaxonal spheroids mimicking cerebral MS.

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.

Hereditary diffuse leucoencephalopathy with spheroids.

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

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