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Page 1
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH. Adler A, et al. Among authors: mazza d. Circulation. 2020 Feb 11;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983240 Free PMC article.
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort.
Santin A, Spedicati B, Morgan A, Lenarduzzi S, Tesolin P, Nardone GG, Mazzà D, Di Lorenzo G, Romano F, Buonomo F, Mangogna A, Concas MP, Zito G, Ricci G, Girotto G. Santin A, et al. Among authors: mazza d. Biomedicines. 2023 Jul 27;11(8):2122. doi: 10.3390/biomedicines11082122. Biomedicines. 2023. PMID: 37626618 Free PMC article.
Itch/β-arrestin2-dependent non-proteolytic ubiquitylation of SuFu controls Hedgehog signalling and medulloblastoma tumorigenesis.
Infante P, Faedda R, Bernardi F, Bufalieri F, Lospinoso Severini L, Alfonsi R, Mazzà D, Siler M, Coni S, Po A, Petroni M, Ferretti E, Mori M, De Smaele E, Canettieri G, Capalbo C, Maroder M, Screpanti I, Kool M, Pfister SM, Guardavaccaro D, Gulino A, Di Marcotullio L. Infante P, et al. Among authors: mazza d. Nat Commun. 2018 Mar 7;9(1):976. doi: 10.1038/s41467-018-03339-0. Nat Commun. 2018. PMID: 29515120 Free PMC article.
Cullin3-BTB interface: a novel target for stapled peptides.
de Paola I, Pirone L, Palmieri M, Balasco N, Esposito L, Russo L, Mazzà D, Di Marcotullio L, Di Gaetano S, Malgieri G, Vitagliano L, Pedone E, Zaccaro L. de Paola I, et al. Among authors: mazza d. PLoS One. 2015 Apr 7;10(4):e0121149. doi: 10.1371/journal.pone.0121149. eCollection 2015. PLoS One. 2015. PMID: 25848797 Free PMC article.
The Women4Health cohort: a unique cohort to study women-specific mechanisms of cardio-metabolic regulation.
Busonero F, Lenarduzzi S, Crobu F, Gentile RM, Carta A, Cracco F, Maschio A, Camarda S, Marongiu M, Zanetti D, Conversano C, Di Lorenzo G, Mazzà D, De Seta F, Girotto G, Sanna S. Busonero F, et al. Among authors: mazza d. Eur Heart J Open. 2024 Feb 27;4(2):oeae012. doi: 10.1093/ehjopen/oeae012. eCollection 2024 Mar. Eur Heart J Open. 2024. PMID: 38532851 Free PMC article.
Molecular organization of the cullin E3 ligase adaptor KCTD11.
Correale S, Pirone L, Di Marcotullio L, De Smaele E, Greco A, Mazzà D, Moretti M, Alterio V, Vitagliano L, Di Gaetano S, Gulino A, Pedone EM. Correale S, et al. Among authors: mazza d. Biochimie. 2011 Apr;93(4):715-24. doi: 10.1016/j.biochi.2010.12.014. Epub 2011 Jan 13. Biochimie. 2011. PMID: 21237243
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: mazza d. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.