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Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease.
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, Detloff PJ, Housman DE, Bates GP. Sathasivam K, et al. Among authors: roos ra. Proc Natl Acad Sci U S A. 2013 Feb 5;110(6):2366-70. doi: 10.1073/pnas.1221891110. Epub 2013 Jan 22. Proc Natl Acad Sci U S A. 2013. PMID: 23341618 Free PMC article.
Cholinergic neuronal defect without cell loss in Huntington's disease.
Smith R, Chung H, Rundquist S, Maat-Schieman ML, Colgan L, Englund E, Liu YJ, Roos RA, Faull RL, Brundin P, Li JY. Smith R, et al. Among authors: roos ra. Hum Mol Genet. 2006 Nov 1;15(21):3119-31. doi: 10.1093/hmg/ddl252. Epub 2006 Sep 20. Hum Mol Genet. 2006. PMID: 16987871
Making (anti-) sense out of huntingtin levels in Huntington disease.
Evers MM, Schut MH, Pepers BA, Atalar M, van Belzen MJ, Faull RL, Roos RA, van Roon-Mom WM. Evers MM, et al. Among authors: roos ra. Mol Neurodegener. 2015 Apr 28;10:21. doi: 10.1186/s13024-015-0018-7. Mol Neurodegener. 2015. PMID: 25928884 Free PMC article.
Orexin loss in Huntington's disease.
Petersén A, Gil J, Maat-Schieman ML, Björkqvist M, Tanila H, Araújo IM, Smith R, Popovic N, Wierup N, Norlén P, Li JY, Roos RA, Sundler F, Mulder H, Brundin P. Petersén A, et al. Among authors: roos ra. Hum Mol Genet. 2005 Jan 1;14(1):39-47. doi: 10.1093/hmg/ddi004. Epub 2004 Nov 3. Hum Mol Genet. 2005. PMID: 15525658
542 results