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A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.
Hum Mol Genet. 2015 Mar 1;24(5):1211-24. doi: 10.1093/hmg/ddu532. Epub 2014 Oct 15.
Hum Mol Genet. 2015.
PMID: 25320121
Free PMC article.
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
Ashizawa T, Figueroa KP, Perlman SL, Gomez CM, Wilmot GR, Schmahmann JD, Ying SH, Zesiewicz TA, Paulson HL, Shakkottai VG, Bushara KO, Kuo SH, Geschwind MD, Xia G, Mazzoni P, Krischer JP, Cuthbertson D, Holbert AR, Ferguson JH, Pulst SM, Subramony SH.
Ashizawa T, et al.
Orphanet J Rare Dis. 2013 Nov 13;8:177. doi: 10.1186/1750-1172-8-177.
Orphanet J Rare Dis. 2013.
PMID: 24225362
Free PMC article.
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