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- [1] Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2024,
- [4] Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome FRONTIERS IN IMMUNOLOGY, 2025, 16
- [6] Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report Neurological Sciences, 2020, 41 : 3353 - 3356
- [9] Late onset Aicardi–Goutières syndrome case report: a rare white matter disease mimicking as pseudo-enzyme deficiency Acta Neurologica Belgica, 2022, 122 : 259 - 261