(Q42782757)

7 November 2017

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations (English)

1 reference

Aicardi-Goutieres syndrome

7 November 2017

1 reference

3

1 reference

7 November 2017

2

Peter Nürnberg

1 reference

7 November 2017

4

Frank Rutsch

1 reference

7 November 2017

Marcel du Moulin

1

1 reference

PMC publication ID

3127916

7 November 2017

language of work or name

English

0 references

publication date

1 June 2011

1 reference

Proceedings of the National Academy of Sciences of the United States of America

7 November 2017

1 reference

7 November 2017

108

1 reference

7 November 2017

26

1 reference

7 November 2017

E232; author reply E233

1 reference

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

7 November 2017

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127916

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127916

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

27 May 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127916

Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis

27 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.1104699108

21 January 2018

Identifiers

DOI

10.1073/PNAS.1104699108

1 reference

7 November 2017

0 references

1 reference

PMC publication ID

3127916

7 November 2017

PubMed publication ID

21633013

1 reference

PMC publication ID

3127916