Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2011 Jun 28;108(26):E232; author reply E233.
doi: 10.1073/pnas.1104699108. Epub 2011 Jun 1.

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

Marcel du Moulin, Peter Nürnberg, Yanick J Crow, Frank Rutsch
Comment

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

Marcel du Moulin et al. Proc Natl Acad Sci U S A. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Comment on

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Xin B, et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA. 2011;108:5372–5377. - PMC - PubMed
    1. Rice GI, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41:829–832. - PMC - PubMed
    1. Aicardi J, Crow YJ, Stephenson JBP. Aicardi–Goutières syndrome. GeneReviews. 2005. Available at http://www.genetests.org/ [updated Nov 4, 2010]
    1. Ramesh V, et al. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol. 2010;52:725–732. - PubMed
    1. Thiele H, et al. Cerebral arterial stenoses and stroke: Novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010;31:E1836–E1850. - PMC - PubMed

MeSH terms

Substances

Supplementary concepts