A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
about
Common neuropathological features underlie distinct clinical presentations in three siblings with hereditary diffuse leukoencephalopathy with spheroids caused by CSF1R p.Arg782His.Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutationDiagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics.Sporadic adult-onset leucodystrophy with axonal spheroids and pigmented glia with no mutations in the known targeted genes.
P2860
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@en
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@nl
type
label
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@en
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@nl
prefLabel
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@en
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@nl
P2093
P2860
P1433
P1476
A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.
@en
P2093
Alina Webber
Maria Del Pilar Cortes
Marie-Christine Guiot
Roberta La Piana
P2860
P2888
P304
P356
10.1007/S10048-014-0413-1
P577
2014-07-12T00:00:00Z