Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia

11 Apr 2019

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to MicroRNA in disease regulation
Share to Neonatal and fetal brain pathology
Share to Neuroinflammation and Neurodegeneration Mechanisms

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 30982608
DOI: 10.1016/j.ajhg.2019.03.010

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of MicrogliaPMID 30982608Read ↗

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 ↗

CSF1R -related leukoencephalopathySemantic proximity Read ↗

CSF1R-related leukoencephalopathy: experimental models and potential for treatment.Semantic proximity Read ↗

A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood NeurodegenerationSemantic proximity Read ↗

From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.Semantic proximity Read ↗

The effect of a dominant kinase-dead <i>Csf1r</i> mutation associated with adult-onset leukoencephalopathy on brain development and neuropathologySemantic proximity Read ↗

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.Semantic proximity Read ↗

CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology.Semantic proximity Read ↗

CSF1R-related leukoencephalopathy.Semantic proximity Read ↗

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

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with an A792D mutation in the CSF1R gene in a Polish patient.Semantic proximity Read ↗

A kinase-dead Csf1r mutation associated with adult-onset leukoencephalopathy has a dominant inhibitory impact on CSF1R signalling.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.