(Q30951687)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

8 March 2020

main subject

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

James A. Nicoll

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Nicola Foulds

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Simon R Hammans

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

David W Ellison

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Adam Ditchfield

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sarah Beck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Sarah Ennis

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

15 May 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

5

1 reference

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8 March 2020

page(s)

10042

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

8 March 2020

copyright license

start time

15 May 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Colony-stimulating factor 1 receptor signaling is necessary for microglia viability, unmasking a microglia progenitor cell in the adult brain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

CSF1R mutations link POLD and HDLS as a single disease entity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

BEDTools: a flexible suite of utilities for comparing genomic features

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

The Sequence Alignment/Map format and SAMtools

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432561

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

21 June 2018

1 reference

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.

21 January 2018

1 reference

Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.

21 January 2018

1 reference

Hereditary diffuse leukoencephalopathy with axonal spheroids caused by R782H mutation in CSF1R: case report.

21 January 2018

1 reference

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/SREP10042

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

8 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25975230%20AND%20SRC:MED&resulttype=core&format=json