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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: faull rl. 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: faull rl. 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
Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage.
Kuhn A, Goldstein DR, Hodges A, Strand AD, Sengstag T, Kooperberg C, Becanovic K, Pouladi MA, Sathasivam K, Cha JH, Hannan AJ, Hayden MR, Leavitt BR, Dunnett SB, Ferrante RJ, Albin R, Shelbourne P, Delorenzi M, Augood SJ, Faull RL, Olson JM, Bates GP, Jones L, Luthi-Carter R. Kuhn A, et al. Among authors: faull rl. Hum Mol Genet. 2007 Aug 1;16(15):1845-61. doi: 10.1093/hmg/ddm133. Epub 2007 May 21. Hum Mol Genet. 2007. PMID: 17519223
DNA instability in postmitotic neurons.
Gonitel R, Moffitt H, Sathasivam K, Woodman B, Detloff PJ, Faull RL, Bates GP. Gonitel R, et al. Among authors: faull rl. Proc Natl Acad Sci U S A. 2008 Mar 4;105(9):3467-72. doi: 10.1073/pnas.0800048105. Epub 2008 Feb 25. Proc Natl Acad Sci U S A. 2008. PMID: 18299573 Free PMC article.
Fragments of HdhQ150 mutant huntingtin form a soluble oligomer pool that declines with aggregate deposition upon aging.
Marcellin D, Abramowski D, Young D, Richter J, Weiss A, Marcel A, Maassen J, Kauffmann M, Bibel M, Shimshek DR, Faull RL, Bates GP, Kuhn RR, Van der Putten PH, Schmid P, Lotz GP. Marcellin D, et al. Among authors: faull rl. PLoS One. 2012;7(9):e44457. doi: 10.1371/journal.pone.0044457. Epub 2012 Sep 12. PLoS One. 2012. PMID: 22984513 Free PMC article.
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: faull rl. Mol Neurodegener. 2015 Apr 28;10:21. doi: 10.1186/s13024-015-0018-7. Mol Neurodegener. 2015. PMID: 25928884 Free PMC article.
Transcriptome sequencing reveals aberrant alternative splicing in Huntington's disease.
Lin L, Park JW, Ramachandran S, Zhang Y, Tseng YT, Shen S, Waldvogel HJ, Curtis MA, Faull RL, Troncoso JC, Pletnikova O, Ross CA, Davidson BL, Xing Y. Lin L, et al. Among authors: faull rl. Hum Mol Genet. 2016 Aug 15;25(16):3454-3466. doi: 10.1093/hmg/ddw187. Epub 2016 Jul 4. Hum Mol Genet. 2016. PMID: 27378699 Free PMC article.
Brain urea increase is an early Huntington's disease pathogenic event observed in a prodromal transgenic sheep model and HD cases.
Handley RR, Reid SJ, Brauning R, Maclean P, Mears ER, Fourie I, Patassini S, Cooper GJS, Rudiger SR, McLaughlan CJ, Verma PJ, Gusella JF, MacDonald ME, Waldvogel HJ, Bawden CS, Faull RLM, Snell RG. Handley RR, et al. Proc Natl Acad Sci U S A. 2017 Dec 26;114(52):E11293-E11302. doi: 10.1073/pnas.1711243115. Epub 2017 Dec 11. Proc Natl Acad Sci U S A. 2017. PMID: 29229845 Free PMC article.
385 results