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106 results

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Page 1
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: gale dp. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
SGLT2-Inhibition in Patients With Alport Syndrome.
Boeckhaus J, Gale DP, Simon J, Ding J, Zhang Y, Bergmann C, Turner AN, Hall M, Sayer JA, Srivastava S, Kang HG, Cerkauskaite-Kerpauskiene A, Gillion V, Claes KJ, Krueger B, de Fallois J, Walden U, Choi M, Schueler M, Mueller RU, Todorova P, Hohenstein B, Zeisberg M, Friede T, Knebelmann B, Halbritter J, Gross O. Boeckhaus J, et al. Among authors: gale dp. Kidney Int Rep. 2024 Sep 24;9(12):3490-3500. doi: 10.1016/j.ekir.2024.09.014. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698346 Free PMC article.
Scoping Review of Economic Analyses of Rare Kidney Diseases.
Angell B, Wang S, Gadsden T, Moorthy M, Malik C, Barratt J, Devuyst O, Ulasi II, Gale DP, Sengupta A, Palagyi A, Jha V, Jan S. Angell B, et al. Among authors: gale dp. Kidney Int Rep. 2024 Sep 12;9(12):3553-3569. doi: 10.1016/j.ekir.2024.09.004. eCollection 2024 Dec. Kidney Int Rep. 2024. PMID: 39698356 Free PMC article.
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Among authors: gale dp. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort.
Wong K, Pitcher D, Braddon F, Downward L, Steenkamp R, Masoud S, Annear N, Barratt J, Bingham C, Coward RJ, Chrysochou T, Game D, Griffin S, Hall M, Johnson S, Kanigicherla D, Karet Frankl F, Kavanagh D, Kerecuk L, Maher ER, Moochhala S, Pinney J, Sayer JA, Simms R, Sinha S, Srivastava S, Tam FWK, Thomas K, Turner AN, Walsh SB, Waters A, Wilson P, Wong E, Sy KTL, Huang K, Ye J, Nitsch D, Saleem M, Bockenhauer D, Bramham K, Gale DP; RaDaR consortium. Wong K, et al. Among authors: gale dp. Kidney Int Rep. 2024 May 9;9(7):2067-2083. doi: 10.1016/j.ekir.2024.04.062. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081723 Free PMC article.
The role of complement in kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Vivarelli M, Barratt J, Beck LH Jr, Fakhouri F, Gale DP, Goicoechea de Jorge E, Mosca M, Noris M, Pickering MC, Susztak K, Thurman JM, Cheung M, King JM, Jadoul M, Winkelmayer WC, Smith RJH; for Conference Participants. Vivarelli M, et al. Among authors: gale dp. Kidney Int. 2024 Sep;106(3):369-391. doi: 10.1016/j.kint.2024.05.015. Epub 2024 Jun 4. Kidney Int. 2024. PMID: 38844295 Free article.
Developing Therapies for C3 Glomerulopathy: Report of the Kidney Health Initiative C3 Glomerulopathy Trial Endpoints Work Group.
Nester C, Decker DA, Meier M, Aslam S, Bomback AS, Caravaca-Fontán F, Cook TH, Feldman DL, Fremeaux-Bacchi V, Gale DP, Gooch A, Johnson S, Licht C, Mathur M, Pickering MC, Praga M, Remuzzi G, Selvarajah V, Smith RJ, Tabriziani H, van de Kar N, Wang Y, Wong E, Mistry K, Lim M, Portillo C, Balogun S, Trachtman H, Thompson A. Nester C, et al. Among authors: gale dp. Clin J Am Soc Nephrol. 2024 Jun 3;19(9):1201-8. doi: 10.2215/CJN.0000000000000505. Online ahead of print. Clin J Am Soc Nephrol. 2024. PMID: 38829708
A Randomized Controlled Clinical Trial Testing Effects of Lademirsen on Kidney Function Decline in Adults with Alport Syndrome.
Gale DP, Gross O, Wang F, Esteban de la Rosa RJ, Hall M, Sayer JA, Appel G, Hariri A, Liu S, Maski M, Shen Y, Zhang Q, Iqbal S, Kowthalam MU, Lin J, Ding J; HERA Clinical Trial Group. Gale DP, et al. Clin J Am Soc Nephrol. 2024 Aug 1;19(8):995-1004. doi: 10.2215/CJN.0000000000000458. Epub 2024 Jun 3. Clin J Am Soc Nephrol. 2024. PMID: 38829703 Clinical Trial.
106 results