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Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with <i>SAMHD1</i> mutations

1 Jun 2011

Abstract excerpt

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

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Identifiers

PMID: 21633013
DOI: 10.1073/pnas.1104699108

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Related research

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Cerebral vasculopathy is a common feature in Aicardi–Goutières syndrome associated with <i>SAMHD1</i> mutationsPMID 21633013Read ↗

Intracerebral large artery disease in Aicardi–Goutières syndrome implicates SAMHD1 in vascular homeostasisSemantic proximity Read ↗

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseSemantic proximity Read ↗

SAMHD1 Mutations Are Also Responsible for Aicardi-Goutières in the Cree Population.Semantic proximity Read ↗

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Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke.Semantic proximity Read ↗

Early arteriopathy in Aicardi-Goutières syndrome 5. Case report and review of literature.Semantic proximity Read ↗

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.Semantic proximity Read ↗

Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.Semantic proximity Read ↗

A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletionsSemantic proximity Read ↗

[An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1].Semantic proximity Read ↗

[Hereditary cerebral small-vessel disease].Semantic proximity Read ↗

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.Semantic proximity Read ↗

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