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Gene expression in Huntington's disease skeletal muscle: a potential biomarker.
Strand AD, Aragaki AK, Shaw D, Bird T, Holton J, Turner C, Tapscott SJ, Tabrizi SJ, Schapira AH, Kooperberg C, Olson JM. Strand AD, et al. Among authors: bird t. Hum Mol Genet. 2005 Jul 1;14(13):1863-76. doi: 10.1093/hmg/ddi192. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888475
Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.
Mouro Pinto R, Arning L, Giordano JV, Razghandi P, Andrew MA, Gillis T, Correia K, Mysore JS, Grote Urtubey DM, Parwez CR, von Hein SM, Clark HB, Nguyen HP, Förster E, Beller A, Jayadaev S, Keene CD, Bird TD, Lucente D, Vonsattel JP, Orr H, Saft C, Petrasch-Parwez E, Wheeler VC. Mouro Pinto R, et al. Among authors: bird td. Hum Mol Genet. 2020 Aug 29;29(15):2551-2567. doi: 10.1093/hmg/ddaa139. Hum Mol Genet. 2020. PMID: 32761094 Free PMC article.
Duplication within the SEPT9 gene associated with a founder effect in North American families with hereditary neuralgic amyotrophy.
Landsverk ML, Ruzzo EK, Mefford HC, Buysse K, Buchan JG, Eichler EE, Petty EM, Peterson EA, Knutzen DM, Barnett K, Farlow MR, Caress J, Parry GJ, Quan D, Gardner KL, Hong M, Simmons Z, Bird TD, Chance PF, Hannibal MC. Landsverk ML, et al. Hum Mol Genet. 2009 Apr 1;18(7):1200-8. doi: 10.1093/hmg/ddp014. Epub 2009 Jan 12. Hum Mol Genet. 2009. PMID: 19139049 Free PMC article.
Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS).
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, Zabetian CP, Kraemer BC, Bird TD, Raskind WH. Korvatska O, et al. Among authors: bird td. Hum Mol Genet. 2013 Aug 15;22(16):3259-68. doi: 10.1093/hmg/ddt180. Epub 2013 Apr 16. Hum Mol Genet. 2013. PMID: 23595882 Free PMC article.
910 results