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Page 1
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: di leo v. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Two type I topoisomerases maintain DNA topology in human mitochondria.
Menger KE, Chapman J, Díaz-Maldonado H, Khazeem MM, Deen D, Erdinc D, Casement JW, Di Leo V, Pyle A, Rodríguez-Luis A, Cowell IG, Falkenberg M, Austin CA, Nicholls TJ. Menger KE, et al. Among authors: di leo v. Nucleic Acids Res. 2022 Oct 28;50(19):11154-11174. doi: 10.1093/nar/gkac857. Nucleic Acids Res. 2022. PMID: 36215039 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 39298287
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE, Chen C, Gomes TB, Di Leo V, Laalo T, Pabis K, Capaldi R, Marusich MF, McDonald D, Filby A, Fuller A, Lehmann Urban D, Zierz S, Deschauer M, Turnbull D, Reeve AK, Lawless C. Vincent AE, et al. Among authors: di leo v. Biochim Biophys Acta Mol Basis Dis. 2024 Jun;1870(5):167131. doi: 10.1016/j.bbadis.2024.167131. Epub 2024 Mar 21. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38521420 Free article.
How Stem and Progenitor Cells Can Affect Renal Diseases.
Montenegro F, Giannuzzi F, Picerno A, Cicirelli A, Stea ED, Di Leo V, Sallustio F. Montenegro F, et al. Among authors: di leo v. Cells. 2024 Aug 30;13(17):1460. doi: 10.3390/cells13171460. Cells. 2024. PMID: 39273032 Free PMC article. Review.
High PEEP/low FiO2 ventilation is associated with lower mortality in COVID-19.
Goossen RL, van Vliet R, Bos LDJ, Buiteman-Kruizinga LA, Hollman MW, Myatra SN, Neto AS, Spronk PE, van der Woude MCE, van Meenen DMP, Paulus F, Schultz MJ; PRoVAcT-COVID investigators. Goossen RL, et al. J Crit Care. 2024 Oct;83:154854. doi: 10.1016/j.jcrc.2024.154854. Epub 2024 Jul 11. J Crit Care. 2024. PMID: 38996499 Free article.
Refractory IgA Nephropathy: A Challenge for Future Nephrologists.
Di Leo V, Annese F, Papadia F, Russo MS, Giliberti M, Sallustio F, Gesualdo L. Di Leo V, et al. Medicina (Kaunas). 2024 Feb 5;60(2):274. doi: 10.3390/medicina60020274. Medicina (Kaunas). 2024. PMID: 38399561 Free PMC article.
86 results