Cited by

• The diagnostic value of saccades in movement disorder patients: a practical guide and review.

  Termsarasab P, Thammongkolchai T, Rucker JC, Frucht SJ. Termsarasab P, et al. J Clin Mov Disord. 2015 Oct 15;2:14. doi: 10.1186/s40734-015-0025-4. eCollection 2015. J Clin Mov Disord. 2015. PMID: 26788350 Free PMC article. Review.
• Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

  Pauly MG, Brüggemann N, Efthymiou S, Grözinger A, Diaw SH, Chelban V, Turchetti V, Vona B, Tadic V, Houlden H, Münchau A, Lohmann K. Pauly MG, et al. Int J Mol Sci. 2023 Jan 18;24(3):1874. doi: 10.3390/ijms24031874. Int J Mol Sci. 2023. PMID: 36768210 Free PMC article. Review.
• Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families.

  Basri R, Yabe I, Soma H, Sasaki H. Basri R, et al. J Hum Genet. 2007;52(10):848-855. doi: 10.1007/s10038-007-0182-x. Epub 2007 Sep 5. J Hum Genet. 2007. PMID: 17805477
• Saccades during symmetrical vergence.

  Coubard OA, Kapoula Z. Coubard OA, et al. Graefes Arch Clin Exp Ophthalmol. 2008 Apr;246(4):521-36. doi: 10.1007/s00417-007-0714-2. Epub 2007 Nov 22. Graefes Arch Clin Exp Ophthalmol. 2008. PMID: 18034354
• Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

  Seong E, Insolera R, Dulovic M, Kamsteeg EJ, Trinh J, Brüggemann N, Sandford E, Li S, Ozel AB, Li JZ, Jewett T, Kievit AJA, Münchau A, Shakkottai V, Klein C, Collins CA, Lohmann K, van de Warrenburg BP, Burmeister M. Seong E, et al. Ann Neurol. 2018 Jun;83(6):1075-1088. doi: 10.1002/ana.25220. Epub 2018 Jun 30. Ann Neurol. 2018. PMID: 29604224 Free PMC article.