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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Matsuura T, et al. Among authors: rasmussen a. Nat Genet. 2000 Oct;26(2):191-4. doi: 10.1038/79911. Nat Genet. 2000. PMID: 11017075
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
Matsuura T, Fang P, Lin X, Khajavi M, Tsuji K, Rasmussen A, Grewal RP, Achari M, Alonso ME, Pulst SM, Zoghbi HY, Nelson DL, Roa BB, Ashizawa T. Matsuura T, et al. Among authors: rasmussen a. Am J Hum Genet. 2004 Jun;74(6):1216-24. doi: 10.1086/421526. Epub 2004 May 4. Am J Hum Genet. 2004. PMID: 15127363 Free PMC article.
Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.
Gao R, Matsuura T, Coolbaugh M, Zühlke C, Nakamura K, Rasmussen A, Siciliano MJ, Ashizawa T, Lin X. Gao R, et al. Among authors: rasmussen a. Eur J Hum Genet. 2008 Feb;16(2):215-22. doi: 10.1038/sj.ejhg.5201954. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043721
Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.
Hashem V, Tiwari A, Bewick B, Teive HAG, Moscovich M, Schüele B, Bushara K, Bower M, Rasmussen A, Tsai YC, Clark T, McFarland K, Ashizawa T. Hashem V, et al. Among authors: rasmussen a. PLoS One. 2020 Mar 11;15(3):e0228789. doi: 10.1371/journal.pone.0228789. eCollection 2020. PLoS One. 2020. PMID: 32160188 Free PMC article.
Huntington's disease--like 2 can present as chorea-acanthocytosis.
Walker RH, Rasmussen A, Rudnicki D, Holmes SE, Alonso E, Matsuura T, Ashizawa T, Davidoff-Feldman B, Margolis RL. Walker RH, et al. Among authors: rasmussen a. Neurology. 2003 Oct 14;61(7):1002-4. doi: 10.1212/01.wnl.0000085866.68470.6d. Neurology. 2003. PMID: 14557581
1,328 results