1.      Bachmann-Gagescu R, Dempsey JC, Phelps IG, et al. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020;182(10):2293-2308. doi:10.1002/ajmg.a.61399

2.      Bender F, Synofzik M, Schöls L, et al. Natural history of polymerase gamma–related ataxia. Mov Disord. 2021;36(11):2652-2660. doi:10.1002/mds.28713

3.      Coarelli G, Wirth T, Tranchant C, Koenig M, Dürr A, Anheim M. The inherited cerebellar ataxias: an update. J Neurol. 2023;270(1):208-222. doi:10.1007/s00415-022-11383-6

4.      Gonçalves FG, Cuvillier J, Morales H, et al. Pediatric CNS mitochondrial disorders—imaging. RadioGraphics. 2020;40(4):1225-1245. doi:10.1148/rg.2020200052

5.      Lynch DR, Chin MP, Delatycki MB, et al. Safety and efficacy of omaveloxolone in Friedreich ataxia (MOXIe Study). Ann Neurol. 2021;89(2):212-225. doi:10.1002/ana.25934

6.      Lynch DR, Johnson J, Mathews KD, et al. Delayed-start analysis of the MOXIe extension. Mov Disord. 2023;38(2):313-320. doi:10.1002/mds.29286

7.      Paprocka J, Nowak M, Chuchra P, Śmigiel R. COQ8A-ataxia in primary coenzyme Q deficiency. Metabolites. 2022;12(10):955. doi:10.3390/metabo12100955

8.      Rahman S. Mitochondrial disease in children. J Intern Med. 2020;287(6):609-633. doi:10.1111/joim.13054

9.      Rothblum-Oviatt C, Wright J, Lefton-Greif MA, et al. Ataxia-telangiectasia: a review. Orphanet J Rare Dis. 2016;11:159. doi:10.1186/s13023-016-0543-7

10.  Spinocerebellar ataxia. Nat Rev Dis Primers. 2019;5(1):25. doi:10.1038/s41572-019-0081-4

11.  Traber MG. Human vitamin E deficiency. Free Radic Biol Med. 2024;213:285-292. doi:10.1016/j.freeradbiomed.2024.01.024