Sage Journals: Discover world-class research

Retricted access

Other

First published 2012-1

Different Mutations in Three Prime Repair Exonuclease 1 and Ribonuclease H2 Genes Affect Clinical Features in Aicardi-Goutières Syndrome

Alberto Izzotti, Mariagrazia Longobardi, Cristina Cartiglia [...]

Journal of Child Neurology

Retricted access

Review article

First published 2011-11

Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations

Georgia Ramantani, Martin Häusler, Pascal Niggemann [...]

Journal of Child Neurology

Retricted access

Research article

First published 2015-3

A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation

Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar [...]

Journal of Child Neurology

Retricted access

Research article

First published 2013-9

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient

I Olivieri, M Cattalini, D Tonduti [...]

Lupus

Retricted access

Review article

First published 2017-05

MDA5-Associated Neuroinflammation and the Singleton–Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum

Insa Buers, Gillian I. Rice, Yanick J. Crow [...]

Journal of Interferon & Cytokine Research

Retricted access

Research article

First published 2013-5

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy,intracranial calcification and acquired moyamoya cerebral vasculopathy

C Troedson, M Wong, J Dalby-Payne [...]

Lupus

Retricted access

Case report

First published 2023-12

Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature

Ivana Markovic, Bosanka Jocic-Jakubi, Zoran Milenkovic

The Neuroradiology Journal

Retricted access

Research article

First published 2017-04

Interferon-Stimulated Gene Expression as a Preferred Biomarker for Disease Activity in Aicardi–Goutières Syndrome

Ben X. Wang, Stephanie A. Grover, Peter Kannu [...]

Journal of Interferon & Cytokine Research

Retricted access

Case report

First published 2019-12

Neuropathological Findings in a Case of IFIH1 -Related Aicardi–Goutières Syndrome

Ahmed Gilani, Laura A Adang, Adeline Vanderver [...]

Pediatric and Developmental Pathology

Free access

Research article

First published 2013-6

Identification of Small-Molecule Inhibitors of the Ribonuclease H2 Enzyme

Rachel White, Barbara Saxty, Jonathan Large [...]

Journal of Biomolecular Screening

Search results