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Venglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD: Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial.
Gansevoort RT, Hariri A, Minini P, Ahn C, Chapman AB, Horie S, Knebelmann B, Mrug M, Ong ACM, Pei YPC, Torres VE, Modur V, Antonshchuk I, Perrone RD. Gansevoort RT, et al. Among authors: knebelmann b. Am J Kidney Dis. 2023 May;81(5):517-527.e1. doi: 10.1053/j.ajkd.2022.10.016. Epub 2022 Dec 17. Am J Kidney Dis. 2023. PMID: 36535535 Free article. Clinical Trial.
Correction: The 2019 and 2021 International workshops on Alport syndrome.
Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: knebelmann b. Eur J Hum Genet. 2024 Jan;32(1):130. doi: 10.1038/s41431-023-01286-z. Eur J Hum Genet. 2024. PMID: 36690832 Free PMC article. No abstract available.
Effects of Bardoxolone Methyl in Alport Syndrome.
Warady BA, Pergola PE, Agarwal R, Andreoli S, Appel GB, Bangalore S, Block GA, Chapman AB, Chin MP, Gibson KL, Goldsberry A, Iijima K, Inker LA, Kashtan CE, Knebelmann B, Mariani LH, Meyer CJ, Nozu K, O'Grady M, Rheault MN, Silva AL, Stenvinkel P, Torra R, Chertow GM. Warady BA, et al. Among authors: knebelmann b. Clin J Am Soc Nephrol. 2022 Dec;17(12):1763-1774. doi: 10.2215/CJN.02400222. Epub 2022 Nov 21. Clin J Am Soc Nephrol. 2022. PMID: 36411058 Free PMC article. Clinical Trial.
Sparsentan versus Irbesartan in Focal Segmental Glomerulosclerosis.
Rheault MN, Alpers CE, Barratt J, Bieler S, Canetta P, Chae DW, Coppock G, Diva U, Gesualdo L, Heerspink HJL, Inrig JK, Kirsztajn GM, Kohan D, Komers R, Kooienga LA, Lieberman K, Mercer A, Noronha IL, Perkovic V, Radhakrishnan J, Rote W, Rovin B, Tesar V, Trimarchi H, Tumlin J, Wong MG, Trachtman H; DUPRO Steering Committee and DUPLEX Investigators. Rheault MN, et al. N Engl J Med. 2023 Dec 28;389(26):2436-2445. doi: 10.1056/NEJMoa2308550. Epub 2023 Nov 3. N Engl J Med. 2023. PMID: 37921461 Clinical Trial.
A wave of deep intronic mutations in X-linked Alport syndrome.
Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G. Boisson M, et al. Among authors: knebelmann b. Kidney Int. 2023 Aug;104(2):367-377. doi: 10.1016/j.kint.2023.05.006. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230224 Free article.
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, Boyer O, Knebelmann B, Heidet L, Saunier S, Chen X, Burgun A. Faviez C, et al. Among authors: knebelmann b. Orphanet J Rare Dis. 2024 Feb 10;19(1):55. doi: 10.1186/s13023-024-03063-7. Orphanet J Rare Dis. 2024. PMID: 38336713 Free PMC article.
Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.
Groothoff JW, Metry E, Deesker L, Garrelfs S, Acquaviva C, Almardini R, Beck BB, Boyer O, Cerkauskiene R, Ferraro PM, Groen LA, Gupta A, Knebelmann B, Mandrile G, Moochhala SS, Prytula A, Putnik J, Rumsby G, Soliman NA, Somani B, Bacchetta J. Groothoff JW, et al. Among authors: knebelmann b. Nat Rev Nephrol. 2023 Mar;19(3):194-211. doi: 10.1038/s41581-022-00661-1. Epub 2023 Jan 5. Nat Rev Nephrol. 2023. PMID: 36604599 Review.
Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.
Prot-Bertoye C, Jung V, Tostivint I, Roger K, Benoist JF, Jannot AS, Van Straaten A, Knebelmann B, Guerrera IC, Courbebaisse M. Prot-Bertoye C, et al. Among authors: knebelmann b. Clin Kidney J. 2024 Feb 22;17(3):sfae040. doi: 10.1093/ckj/sfae040. eCollection 2024 Mar. Clin Kidney J. 2024. PMID: 38510798 Free PMC article.
HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial.
Bais T, Meijer E, Kramers BJ, Vart P, Vervloet M, Salih M, Bammens B, Demoulin N, Todorova P, Müller RU, Halbritter J, Paliege A, Gall EC, Knebelmann B, Torra R, Ong ACM, Karet Frankl FE, Gansevoort RT. Bais T, et al. Among authors: knebelmann b. Trials. 2024 Feb 14;25(1):120. doi: 10.1186/s13063-024-07952-x. Trials. 2024. PMID: 38355627 Free PMC article.
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
Saei H, Morinière V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschké P, Dorval G. Saei H, et al. Among authors: knebelmann b. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21. iScience. 2023. PMID: 37456840 Free PMC article.
161 results