(Q30881638)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

0 references

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Guy Helman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Simona Orcesi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Carla Uggetti

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

8

Roberta La Piana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Heather Gordish-Dressman

11

object named as

Heather Gordisch-Dressman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

author name string

Adeline Vanderver

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Morgan Prust

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Nadja Kadom

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Scott Demarest

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Jichuan Wang

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

Marjo S van der Knaap

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

John H Livingston

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

publication date

22 December 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

Journal of Child Neurology

26 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

volume

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

page(s)

1343-1348

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

26 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutieres syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutières syndrome: description of a late onset case

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutières syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

Aicardi-Goutières syndrome: an update and results of interferon-alpha 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=4476968

Acute neurological dysfunction associated with destructive lesions of the basal ganglia in children

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4476968

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0883073814562252

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1177%2F0883073814562252

Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25535058

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1177/0883073814562252

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

PubMed publication ID

25535058

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25535058%20AND%20SRC:MED&resulttype=core&format=json