Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.
about
Microvascular pathology and morphometrics of sporadic and hereditary small vessel diseases of the brainAdult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: report of five cases and a new mutation.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.Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids.Atypical MRI features in familial adult onset Alexander disease: case report.CSF1R mutations link POLD and HDLS as a single disease entity.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 mutationA clinicopathological and genetic study of sporadic diffuse leukoencephalopathy with spheroids: a report of two cases.Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with 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).Early pathologic changes in hereditary diffuse leukoencephalopathy with spheroids.Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.[Hereditary diffuse leukencephalopathy with spheroids: a microgliopathy due to CSF1 receptor impairment].CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy.
P2860
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P2860
Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@en
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@nl
type
label
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@en
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@nl
prefLabel
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@en
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@nl
P2093
P1476
Hereditary diffuse leukoenceph ...... utation in CSF1R: case report.
@en
P2093
Kiyomitsu Oyanagi
Kunihiro Yoshida
Michiaki Kinoshita
Shu-ichi Ikeda
Takao Hashimoto
P304
P356
10.1016/J.JNS.2012.03.012
P577
2012-04-14T00:00:00Z