Condition: Hereditary Diffuse Leukoencephalopathy with Spheroids


rs387906662 in CSF1R gene and Hereditary Diffuse Leukoencephalopathy with Spheroids PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 24532199 2014 Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 24198292 2013 De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS).

PMID 24034409 2013 A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 24094860 2013 Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids.

PMID 2470618 1989 Involvement of tryptase-related cellular protease(s) in human immunodeficiency virus type 1 infection.

PMID 25012610 2014 A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids.

PMID 25311247 2015 Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis.