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Targeting Huntingtin Expression in Patients with Huntington's Disease.
Tabrizi SJ, Leavitt BR, Landwehrmeyer GB, Wild EJ, Saft C, Barker RA, Blair NF, Craufurd D, Priller J, Rickards H, Rosser A, Kordasiewicz HB, Czech C, Swayze EE, Norris DA, Baumann T, Gerlach I, Schobel SA, Paz E, Smith AV, Bennett CF, Lane RM; Phase 1–2a IONIS-HTTRx Study Site Teams. Tabrizi SJ, et al. Among authors: smith av. N Engl J Med. 2019 Jun 13;380(24):2307-2316. doi: 10.1056/NEJMoa1900907. Epub 2019 May 6. N Engl J Med. 2019. PMID: 31059641 Clinical Trial.
Therapeutic Antisense Targeting of Huntingtin.
Smith AV, Tabrizi SJ. Smith AV, et al. DNA Cell Biol. 2020 Feb;39(2):154-158. doi: 10.1089/dna.2019.5188. Epub 2019 Dec 10. DNA Cell Biol. 2020. PMID: 31821021 Review.
A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier F, Simillion C, Bamdadian A, Tortelli R, Byrne LM, Zhang YP, Wolf D, Smith AV, Czech C, Gossens C, Weydt P, Schobel SA, Rodrigues FB, Wild EJ, Lindemann M. Lipsmeier F, et al. Among authors: smith av. J Med Internet Res. 2022 Jun 28;24(6):e32997. doi: 10.2196/32997. J Med Internet Res. 2022. PMID: 35763342 Free PMC article.
Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.
Keener R, Chhetri SB, Connelly CJ, Taub MA, Conomos MP, Weinstock J, Ni B, Strober B, Aslibekyan S, Auer PL, Barwick L, Becker LC, Blangero J, Bleecker ER, Brody JA, Cade BE, Celedon JC, Chang YC, Cupples LA, Custer B, Freedman BI, Gladwin MT, Heckbert SR, Hou L, Irvin MR, Isasi CR, Johnsen JM, Kenny EE, Kooperberg C, Minster RL, Naseri T, Viali S, Nekhai S, Pankratz N, Peyser PA, Taylor KD, Telen MJ, Wu B, Yanek LR, Yang IV, Albert C, Arnett DK, Ashley-Koch AE, Barnes KC, Bis JC, Blackwell TW, Boerwinkle E, Burchard EG, Carson AP, Chen Z, Chen YI, Darbar D, de Andrade M, Ellinor PT, Fornage M, Gelb BD, Gilliland FD, He J, Islam T, Kaab S, Kardia SLR, Kelly S, Konkle BA, Kumar R, Loos RJF, Martinez FD, McGarvey ST, Meyers DA, Mitchell BD, Montgomery CG, North KE, Palmer ND, Peralta JM, Raby BA, Redline S, Rich SS, Roden D, Rotter JI, Ruczinski I, Schwartz D, Sciurba F, Shoemaker MB, Silverman EK, Sinner MF, Smith NL, Smith AV, Tiwari HK, Vasan RS, Weiss ST, Williams LK, Zhang Y, Ziv E, Raffield LM, Reiner AP; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; TOPMed Hematology and Hemostasis Working Group; TOPMed Structural Variation Working Group; Arvanitis M, G… See abstract for full author list ➔ Keener R, et al. Among authors: smith av. Nat Commun. 2024 May 24;15(1):4417. doi: 10.1038/s41467-024-48394-y. Nat Commun. 2024. PMID: 38789417 Free PMC article.
Whole genome sequence analysis of apparent treatment resistant hypertension status in participants from the Trans-Omics for Precision Medicine program.
Armstrong ND, Srinivasasainagendra V, Ammous F, Assimes TL, Beitelshees AL, Brody J, Cade BE, Ida Chen YD, Chen H, de Vries PS, Floyd JS, Franceschini N, Guo X, Hellwege JN, House JS, Hwu CM, Kardia SLR, Lange EM, Lange LA, McDonough CW, Montasser ME, O'Connell JR, Shuey MM, Sun X, Tanner RM, Wang Z, Zhao W, Carson AP, Edwards TL, Kelly TN, Kenny EE, Kooperberg C, Loos RJF, Morrison AC, Motsinger-Reif A, Psaty BM, Rao DC, Redline S, Rich SS, Rotter JI, Smith JA, Smith AV, Irvin MR, Arnett DK. Armstrong ND, et al. Among authors: smith av. Front Genet. 2023 Dec 13;14:1278215. doi: 10.3389/fgene.2023.1278215. eCollection 2023. Front Genet. 2023. PMID: 38162683 Free PMC article.
474 results