Nucleotide metabolism, leukodystrophies, and <scp>CNS</scp> pathologyFrancesco Gavazzi, Laura Adang, Lauren Charlton et al.|Journal of Inherited Metabolic Disease|2024Cited by 14
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G. Calame, Adeline Vanderver, Emma K. Wiener et al.|medRxiv|2026Cited by 1