1. Štěrbová, K, Vlčková, M, Hansíková, H, Pavlíček, P, Laššuthová, Petra. 2021. Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review. In Neurogenetics, 22, 359-364. doi:10.1007/s10048-021-00659-0. https://pubmed.ncbi.nlm.nih.gov/34415467/
2. Vafaee-Shahi, Mohammad, Farhadi, Mohammad, Razmara, Ehsan, Alizadeh, Rafieh, Falah, Masoumeh. 2021. Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations. In Irish journal of medical science, 191, 1877-1890. doi:10.1007/s11845-021-02736-7. https://pubmed.ncbi.nlm.nih.gov/34374940/
3. Tanaka, Ryosuke, Takeguchi, Ryo, Kuroda, Mami, Kaname, Tadashi, Takahashi, Satoru. 2022. Novel NARS2 variant causing leigh syndrome with normal lactate levels. In Human genome variation, 9, 12. doi:10.1038/s41439-022-00191-z. https://pubmed.ncbi.nlm.nih.gov/35508527/
4. Yagasaki, Hideaki, Sano, Fumikazu, Narusawa, Hiromune, Yonei, Ayumi, Inukai, Takeshi. 2022. Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome. In American journal of medical genetics. Part A, 188, 2466-2471. doi:10.1002/ajmg.a.62873. https://pubmed.ncbi.nlm.nih.gov/35703918/
5. Mizuguchi, Takeshi, Nakashima, Mitsuko, Kato, Mitsuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi. 2017. PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. In Journal of human genetics, 62, 525-529. doi:10.1038/jhg.2016.163. https://pubmed.ncbi.nlm.nih.gov/28077841/
6. Ait-El-Mkadem Saadi, Samira, Kaphan, Elsa, Morales Jaurrieta, Amaya, Paquis-Flucklinger, Véronique, Rouzier, Cécile. 2022. Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability. In European journal of medical genetics, 65, 104643. doi:10.1016/j.ejmg.2022.104643. https://pubmed.ncbi.nlm.nih.gov/36252909/
智鼠故事 
