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Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.

Neurology - 29 Nov 2016

Ayrignac Xavier, Mouzat Kevin, Magnin Eloi, Berger Eric, Carra-Dallière Clarisse, Lumbroso Serge, Labauge Pierre

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Macrophage Colony-Stimulating Factor

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Identifiers

PMID: 27895249
DOI: 10.1212/WNL.0000000000003370

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Research trail→

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Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.PMID 27895249Read ↗

Author response: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.Semantic proximity Read ↗

Summary author response: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.Semantic proximity Read ↗

Letter re: Mystery Case: CSF-1R mutation is a cause of intracranial cerebral calcifications, cysts, and leukoencephalopathy.Semantic proximity Read ↗

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification.Semantic proximity Read ↗

Novel partial deletions, frameshift and missense mutations of CSF1R in patents with CSF1R-related leukoencephalopathy.Semantic proximity Read ↗

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosisSemantic proximity Read ↗

Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings.Semantic proximity Read ↗

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroidsSemantic proximity Read ↗

The First Autopsy-Proven Case of CSF1R-Related Leukoencephalopathy Harboring the p.Cys774Arg Mutation.Semantic proximity Read ↗

Brain Calcifications: Genetic, Molecular, and Clinical Aspects.Semantic proximity Read ↗

Primary brain calcification: an international study reporting novel variants and associated phenotypes.Semantic proximity Read ↗

CSF1R-related leukoencephalopathy.Semantic proximity Read ↗

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