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Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Bennett CL, Dastidar S, Arnold FJ, McKinstry SU, Stockford C, Freibaum BD, Sopher BL, Wu M, Seidner G, Joiner W, Taylor JP, West RJH, La Spada AR. Bennett CL, et al. Among authors: taylor jp. Acta Neuropathol Commun. 2023 Oct 17;11(1):164. doi: 10.1186/s40478-023-01665-z. Acta Neuropathol Commun. 2023. PMID: 37845749 Free PMC article.
Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.
Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, Tillman H, Chen PC, Wang Y, Freeman BB 3rd, Li Y, Kim HJ, La Spada AR, Taylor JP. Badders NM, et al. Among authors: taylor jp. Nat Med. 2024 Mar;30(3):909-910. doi: 10.1038/s41591-023-02778-7. Nat Med. 2024. PMID: 38191617 No abstract available.
Long COVID and cardiovascular disease: a prospective cohort study.
Lawson CA, Moss AJ, Arnold JR, Bagot C, Banerjee A, Berry C, Greenwood J, Hughes AD, Khunti K, Mills NL, Neubauer S, Raman B, Sattar N, Leavy OC, Richardson M, Elneima O, McAuley HJ, Shikotra A, Singapuri A, Sereno M, Saunders R, Harris V, Houchen-Wolloff L, Greening NJ, Harrison E, Docherty AB, Lone NI, Quint JK, Chalmers J, Ho LP, Horsley A, Marks M, Poinasamy K, Evans R, Wain LV, Brightling C, McCann GP; PHOSP-COVID Study Collaborative Group. Lawson CA, et al. Open Heart. 2024 May 27;11(1):e002662. doi: 10.1136/openhrt-2024-002662. Open Heart. 2024. PMID: 38802280 Free PMC article.
Development of a comprehensive cardiovascular disease genetic risk assessment test.
Amendola LM, Coffey AJ, Lowry J, Avecilla J, Malhotra A, Chawla A, Thacker S, Taylor JP, Rajkumar R, Brown CM, Golden-Grant K, Hejja R, Lee JA, Medrano P, Milewski B, Mullen F, Walker A, Huertez-Vasquez A, Longoni M, Perry DL, Hostin D, Ajay SS, Kesari A, Strom SP, Margulies E, Belmont J, Lanfear DE, Taft RJ. Amendola LM, et al. Among authors: taylor jp. medRxiv [Preprint]. 2024 May 9:2024.05.06.24306379. doi: 10.1101/2024.05.06.24306379. medRxiv. 2024. PMID: 38766118 Free PMC article. Preprint.
A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
Korff A, Yang X, O'Donovan K, Gonzalez A, Teubner BJ, Nakamura H, Messing J, Yang F, Carisey AF, Wang YD, Patni T, Sheppard H, Zakharenko SS, Chook YM, Taylor JP, Kim HJ. Korff A, et al. Among authors: taylor jp. J Clin Invest. 2024 Apr 15;134(8):e181331. doi: 10.1172/JCI181331. J Clin Invest. 2024. PMID: 38618962 Free PMC article. No abstract available.
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease.
Liew F, Efstathiou C, Fontanella S, Richardson M, Saunders R, Swieboda D, Sidhu JK, Ascough S, Moore SC, Mohamed N, Nunag J, King C, Leavy OC, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Harris VC, Houchen-Wolloff L, Greening NJ, Lone NI, Thorpe M, Thompson AAR, Rowland-Jones SL, Docherty AB, Chalmers JD, Ho LP, Horsley A, Raman B, Poinasamy K, Marks M, Kon OM, Howard LS, Wootton DG, Quint JK, de Silva TI, Ho A, Chiu C, Harrison EM, Greenhalf W, Baillie JK, Semple MG, Turtle L, Evans RA, Wain LV, Brightling C, Thwaites RS, Openshaw PJM; PHOSP-COVID collaborative group; ISARIC investigators. Liew F, et al. Nat Immunol. 2024 Apr;25(4):607-621. doi: 10.1038/s41590-024-01778-0. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589621 Free PMC article.
568 results