Cited by

• Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.

  Gan SR, Ni W, Dong Y, Wang N, Wu ZY. Gan SR, et al. PLoS One. 2015 Aug 12;10(8):e0134405. doi: 10.1371/journal.pone.0134405. eCollection 2015. PLoS One. 2015. PMID: 26266536 Free PMC article.
• Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

  Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Gaspar C, et al. Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20. Am J Hum Genet. 2001. PMID: 11133357 Free PMC article.
• Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

  Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Prudencio M, et al. Sci Transl Med. 2020 Oct 21;12(566):eabb7086. doi: 10.1126/scitranslmed.abb7086. Sci Transl Med. 2020. PMID: 33087504 Free PMC article.
• Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

  Fujioka S, Sundal C, Wszolek ZK. Fujioka S, et al. Orphanet J Rare Dis. 2013 Jan 18;8:14. doi: 10.1186/1750-1172-8-14. Orphanet J Rare Dis. 2013. PMID: 23331413 Free PMC article. Review.
• An isoform of ataxin-3 accumulates in the nucleus of neuronal cells in affected brain regions of SCA3 patients.

  Schmidt T, Landwehrmeyer GB, Schmitt I, Trottier Y, Auburger G, Laccone F, Klockgether T, Völpel M, Epplen JT, Schöls L, Riess O. Schmidt T, et al. Brain Pathol. 1998 Oct;8(4):669-79. doi: 10.1111/j.1750-3639.1998.tb00193.x. Brain Pathol. 1998. PMID: 9804376 Free PMC article.