Cited by

• 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.
• Different origins of mutations at the Machado-Joseph locus (MJD1).

  Iughetti P, Zatz M, Bueno MR, Marie SK. Iughetti P, et al. J Med Genet. 1996 May;33(5):439. doi: 10.1136/jmg.33.5.439. J Med Genet. 1996. PMID: 8733063 Free PMC article. No abstract available.
• Ancestry of the Brazilian TP53 c.1010G>A (p.Arg337His, R337H) Founder Mutation: Clues from Haplotyping of Short Tandem Repeats on Chromosome 17p.

  Paskulin DD, Giacomazzi J, Achatz MI, Costa S, Reis RM, Hainaut P, dos Santos SE, Ashton-Prolla P. Paskulin DD, et al. PLoS One. 2015 Nov 30;10(11):e0143262. doi: 10.1371/journal.pone.0143262. eCollection 2015. PLoS One. 2015. PMID: 26618902 Free PMC article.
• SCA3: neurological features, pathogenesis and animal models.

  Riess O, Rüb U, Pastore A, Bauer P, Schöls L. Riess O, et al. Cerebellum. 2008;7(2):125-37. doi: 10.1007/s12311-008-0013-4. Cerebellum. 2008. PMID: 18418689 Review.
• Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

  Lee HS, Sambuughin N, Cervenakova L, Chapman J, Pocchiari M, Litvak S, Qi HY, Budka H, del Ser T, Furukawa H, Brown P, Gajdusek DC, Long JC, Korczyn AD, Goldfarb LG. Lee HS, et al. Am J Hum Genet. 1999 Apr;64(4):1063-70. doi: 10.1086/302340. Am J Hum Genet. 1999. PMID: 10090891 Free PMC article.