1. Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nature reviews Disease primers. 2019 Apr 11;5(1):24.

2. Sullivan R, Yau WY, O’Connor E, Houlden H. Spinocerebellar ataxia: an update. Journal of neurology. 2019 Feb 1;266(2):533-44.

3. Ashizawa T, Öz G, Paulson HL. Spinocerebellar ataxias: prospects and challenges for therapy development. Nature Reviews Neurology. 2018 Oct;14(10):590-605.

4. Cui ZT, Mao ZT, Yang R, Li JJ, Jia SS, Zhao JL, et al. Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances. Frontiers in neuroscience. 2024 Jun 4;18:1422442.

5. Schöls L. Autosomal dominant spinocerebellar ataxias. Orphanet Encyclopedia. 2003 Aug.

6. Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, et al. Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series. Journal of neurology. 2013 Oct;260(10):2556-61.

7. Becker-Bense S, Kaiser L, Becker R, Feil K, Muth C, Albert NL, et al. Acetyl-dl-leucine in cerebellar ataxia ([18F]-FDG-PET study): how does a cerebellar disorder influence cortical sensorimotor networks?. Journal of Neurology. 2023 Jan;270(1):44-56.

8. Mehri A, Toosi MB, Tavasoli AR, Saberi-Karimian M. The latest developments for the treatment of ataxia telangiectasia: A narrative review. The Cerebellum. 2024 Dec;23(6):2607-15.

9. Martakis K, Giorgi M, Spanou M, Neubauer BA, Dinopoulos A, Hahn A. N-Acetyl-leucine in progressive CACNA1A ataxia: A case series. European Journal of Paediatric Neurology. 2025 Jan 1;54:64-7.

10. Saberi-Karimian M, Houra M, Jamialahmadi T, Sarvghadi P, Nikbaf M, Akhlaghi S, et al. The effects of N-Acetyl-L-Leucine on the improvement of symptoms in a patient with multiple sulfatase deficiency. The Cerebellum. 2023 Dec;22(6):1250-6.

11. Saberi-Karimian M, Beyraghi-Tousi M, Mirzadeh M, Gumpricht E, Sahebkar A. The effect of N-acetyl-DL-leucine on neurological symptoms in a patient with ataxia-telangiectasia: a case study. The Cerebellum. 2023 Feb;22(1):96-101.

12. Churchill GC, Strupp M, Galione A, Platt FM. Unexpected differences in the pharmacokinetics of N-acetyl-DL-leucine enantiomers after oral dosing and their clinical relevance. PLoS one. 2020 Feb 27;15(2):e0229585.

13. Krasny-Pacini A, Evans J. Single-case experimental designs to assess intervention effectiveness in rehabilitation: A practical guide. Annals of physical and rehabilitation medicine. 2018 May 1;61(3):164-79.

14. Feil K, Adrion C, Teufel J, Bösch S, Claassen J, Giordano I, et al. Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial. BMC neurology. 2017 Jan 10;17(1):7.

15. Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, et al. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia. Trials. 2021 Jan 22;22(1):84.

16. Beyraghi-Tousi M, Sahebkar A, Houra M, Sarvghadi P, Jamialahmadi T, Bagheri R, et al. Efficacy and safety of N-acetyl-L-leucine in patients with ataxia telangiectasia: A randomized, double-blind, placebo-controlled, crossover clinical trial. European Journal of Paediatric Neurology. 2024 May 1;50:57-63.

17. Saberi Z, Shahabi F, Mansouri A, Mardani Kalateh Gheshlagh V, Esmaily H, Hassanpour M, et al. Validity and Reliability of the Scale Assessment and Rating of Ataxia Persian Version Questionnaire. Journal of Cardio-Thoracic Medicine. 2024 Dec 1;12(4):1410-7.

18. Mohamadian H, Akbari H, Gilasi H, Gharlipour Z, Moazami A, Aghajani M, et al. Validation of pediatric quality of life questionnaire (PedsQL) in Kashan city. J Ilam Univ Med Sci. 2014;22(3):10-8.

19. Schniepp R, Strupp M, Wuehr M, Jahn K, Dieterich M, Brandt T, et al. Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxia—a case series. Cerebellum & ataxias. 2016 Apr 12;3(1):8.

20. Feil K, Adrion C, Boesch S, Doss S, Giordano I, Hengel H, et al. Safety and efficacy of acetyl-DL-leucine in certain types of cerebellar ataxia: the ALCAT randomized clinical crossover trial. JAMA network open. 2021 Dec 14;4(12):e2135841.