Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson et al. · Nature Genetics · 2014 · 591 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Trex1 Exonuclease Degrades ssDNA to Prevent Chronic Checkpoint Activation and Autoimmune Disease

Yun‐Gui Yang, Tomas Lindahl, Deborah E. Barnes · Cell · 2007 · 581 citations · Full text

Life Sciences, Immunology, Molecular Biology +16

Human ADAR1 Prevents Endogenous RNA from Triggering Translational Shutdown

Hachung Chung, Jorg J. A. Calis, Xianfang Wu et al. · Cell · 2018 · 559 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

Jean Aicardi, Françoise Goutières · Annals of Neurology · 1984 · 482 citations

Medicine, Neurology, Neuroscience +17