1. Mathew, Thomas, Avati, Amrutha, D'Souza, Delon, Therambil, Manjusha. 2018. Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features. In Epilepsia open, 3, 270-275. doi:10.1002/epi4.12108. https://pubmed.ncbi.nlm.nih.gov/29881806/
2. Xu, Yan, Wu, Bing-Bing, Wang, Hui-Jun, Cheng, Guo-Qiang, Zhou, Yuan-Feng. . A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report. In Translational pediatrics, 9, 707-712. doi:10.21037/tp-20-110. https://pubmed.ncbi.nlm.nih.gov/33209735/
3. Walimbe, Ameya S, Machol, Keren, Kralik, Stephen F, Emrick, Lisa T, Scaglia, Fernando. 2024. Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report. In BMC neurology, 24, 87. doi:10.1186/s12883-024-03571-w. https://pubmed.ncbi.nlm.nih.gov/38438854/
4. van Dijk, Tessa, van Ruissen, Fred, Jaeger, Bregje, Wolf, Nicole I, Poll-The, Bwee Tien. 2016. RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy? In JIMD reports, 33, 87-92. doi:10.1007/8904_2016_584. https://pubmed.ncbi.nlm.nih.gov/27683254/
5. de Valles-Ibáñez, Guillem, Hildebrand, Michael S, Bahlo, Melanie, Scheffer, Ingrid E, Sadleir, Lynette G. 2021. Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype. In Epilepsia open, 7, 170-180. doi:10.1002/epi4.12553. https://pubmed.ncbi.nlm.nih.gov/34717047/
6. Bendeck, Joanna L, Villamizar, Ives, Prieto, Carolina, Celis, Luis G. 2022. [Autosomal recessive heterocygote mutation of the RARS2 gene in a colombian patient with non- consanguineous parents]. In Archivos argentinos de pediatria, 120, e39-e48. doi:10.5546/aap.2022.e39. https://pubmed.ncbi.nlm.nih.gov/35068129/
7. Pronicka, Ewa, Piekutowska-Abramczuk, Dorota, Ciara, Elżbieta, Krajewska-Walasek, Małgorzata, Płoski, Rafał. 2016. New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. In Journal of translational medicine, 14, 174. doi:10.1186/s12967-016-0930-9. https://pubmed.ncbi.nlm.nih.gov/27290639/
8. Nicolle, Romain, Altin, Nami, Siquier-Pernet, Karine, Rausell, Antonio, Cantagrel, Vincent. 2023. A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia. In BMC medical genomics, 16, 143. doi:10.1186/s12920-023-01582-z. https://pubmed.ncbi.nlm.nih.gov/37344844/