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Page 1
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: sharpe c. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Analysis of EEG patterns and genotypes in patients with Angelman syndrome.
Vendrame M, Loddenkemper T, Zarowski M, Gregas M, Shuhaiber H, Sarco DP, Morales A, Nespeca M, Sharpe C, Haas K, Barnes G, Glaze D, Kothare SV. Vendrame M, et al. Among authors: sharpe c. Epilepsy Behav. 2012 Mar;23(3):261-5. doi: 10.1016/j.yebeh.2011.11.027. Epub 2012 Feb 16. Epilepsy Behav. 2012. PMID: 22341959
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.
Achieving Benchmarks for National Quality Indicators Reduces Recurrence and Progression in Non-muscle-invasive Bladder Cancer.
Mariappan P, Johnston A, Trail M, Hamid S, Hollins G, Dreyer BA, Ramsey S, Padovani L, Garau R, Enriquez JG, Boden A, Maresca G, Simpson H, Hasan R, Sharpe C, Thomas BG, Chaudhry AH, Khan RS, Bhatt JR, Ahmad I, Nandwani GM, Dimitropoulos K, Makaroff L, Shaw J, Graham C, Hendry D; Scot BC Quality OPS Clinical Collaborative. Mariappan P, et al. Among authors: sharpe c. Eur Urol Oncol. 2024 Jan 30:S2588-9311(24)00037-3. doi: 10.1016/j.euo.2024.01.012. Online ahead of print. Eur Urol Oncol. 2024. PMID: 38296735 Free article.
Post-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury.
Taquet M, Skorniewska Z, Zetterberg H, Geddes JR, Mummery CJ, Chalmers JD, Ho LP, Horsley A, Marks M, Poinasamy K, Raman B, Leavy OC, Richardson M, Elneima O, McAuley HJC, Shikotra A, Singapuri A, Sereno M, Saunders RM, Harris VC, Houchen-Wolloff L, Mansoori P, Greening NJ, Harrison EM, Docherty AB, Lone NI, Quint J, Greenhalf W, Wain LV, Brightling CE, Evans RE, Harrison PJ, Koychev I; PHOSP-COVID Study Collaborative Group. Taquet M, et al. Brain Commun. 2023 Dec 27;6(1):fcad357. doi: 10.1093/braincomms/fcad357. eCollection 2024. Brain Commun. 2023. PMID: 38229877 Free PMC article.
Accelarated immune ageing is associated with COVID-19 disease severity.
Lord JM, Veenith T, Sullivan J, Sharma-Oates A, Richter AG, Greening NJ, McAuley HJC, Evans RA, Moss P, Moore SC, Turtle L, Gautam N, Gilani A, Bajaj M, Wain LV, Brightling C, Raman B, Marks M, Singapuri A, Elneima O, Openshaw PJM, Duggal NA; PHOSP-COVID Study collaborative group; ISARIC4C investigators. Lord JM, et al. Immun Ageing. 2024 Jan 11;21(1):6. doi: 10.1186/s12979-023-00406-z. Immun Ageing. 2024. PMID: 38212801 Free PMC article.
277 results