Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR et al.
American Journal of Medical Genetics. Part A, 2024
Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.
Markovic I et al.
The Neuroradiology Journal, 2023
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ et al.
American Journal of Medical Genetics. Part A, 2015
25604658 (PubMed )
Supplement: supplement_1.docx
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Ramesh V et al.
Developmental Medicine and Child Neurology, 2010
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