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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: truglio g. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
A Model Program for Translational Medicine in Epilepsy Genetics.
Smith LA, Ullmann JF, Olson HE, Achkar CM, Truglio G, Kelly M, Rosen-Sheidley B, Poduri A. Smith LA, et al. Among authors: truglio g. J Child Neurol. 2017 Mar;32(4):429-436. doi: 10.1177/0883073816685654. Epub 2017 Jan 6. J Child Neurol. 2017. PMID: 28056630 Free PMC article.
CanB, a Druggable Cellular Target in Mycobacterium tuberculosis.
Degiacomi G, Gianibbi B, Recchia D, Stelitano G, Truglio GI, Marra P, Stamilla A, Makarov V, Chiarelli LR, Manetti F, Pasca MR. Degiacomi G, et al. Among authors: truglio gi. ACS Omega. 2023 Jul 3;8(28):25209-25220. doi: 10.1021/acsomega.3c02311. eCollection 2023 Jul 18. ACS Omega. 2023. PMID: 37483251 Free PMC article.
The role of staff and contaminated environmental surfaces in spreading of norovirus infection in a long-term health care facility in Italy.
Aprea G, Di Bartolo I, Monini M, D'Angelantonio D, Scattolini S, Boni A, Truglio G, Di Giacobbe S, Serio A, Antoci S, Di Marzio V, Migliorati G, D'Alterio N, Pomilio F. Aprea G, et al. Among authors: truglio g. Vet Ital. 2021 Dec 31;57(4):311-318. doi: 10.12834/VetIt.2479.15150.1. Vet Ital. 2021. PMID: 35593490 Free article.
Focused library of phenyl-fused macrocyclic amidinoureas as antifungal agents.
Balestri LJI, D'Agostino I, Rango E, Vagaggini C, Marchitiello R, Mariotti M, Casian A, Deodato D, Truglio GI, Orofino F, Sanguinetti M, Bugli F, Botta L, Dreassi E. Balestri LJI, et al. Among authors: truglio gi. Mol Divers. 2022 Dec;26(6):3399-3409. doi: 10.1007/s11030-022-10388-7. Epub 2022 Feb 10. Mol Divers. 2022. PMID: 35143033 Free PMC article.
In vitro characterization, ADME analysis, and histological and toxicological evaluation of BM1, a macrocyclic amidinourea active against azole-resistant Candida strains.
Orofino F, Truglio GI, Fiorucci D, D'Agostino I, Borgini M, Poggialini F, Zamperini C, Dreassi E, Maccari L, Torelli R, Martini C, Bernabei M, Meis JF, Khandelwal NK, Prasad R, Sanguinetti M, Bugli F, Botta M. Orofino F, et al. Among authors: truglio gi. Int J Antimicrob Agents. 2020 Mar;55(3):105865. doi: 10.1016/j.ijantimicag.2019.105865. Epub 2019 Dec 20. Int J Antimicrob Agents. 2020. PMID: 31866465
17 results