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A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. Diquigiovanni C, et al. Among authors: bonora e. FASEB J. 2019 Oct;33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. FASEB J. 2019. PMID: 31314595
., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S., Bonora, E. ...
., Tranchina, A., Buscherini, F., Wischmeijer, A., Pippucci, T., Scarano, E., Cordelli, D. M., Fato, R., Seri, M., Paracchini, S., …
RASAL1 and ROS1 Gene Variants in Hereditary Breast Cancer.
Isidori F, Bozzarelli I, Ferrari S, Godino L, Innella G, Turchetti D, Bonora E. Isidori F, et al. Among authors: bonora e. Cancers (Basel). 2020 Sep 7;12(9):2539. doi: 10.3390/cancers12092539. Cancers (Basel). 2020. PMID: 32906649 Free PMC article.
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer.
Diquigiovanni C, Bergamini C, Evangelisti C, Isidori F, Vettori A, Tiso N, Argenton F, Costanzini A, Iommarini L, Anbunathan H, Pagotto U, Repaci A, Babbi G, Casadio R, Lenaz G, Rhoden KJ, Porcelli AM, Fato R, Bowcock A, Seri M, Romeo G, Bonora E. Diquigiovanni C, et al. Among authors: bonora e. Int J Cancer. 2018 Oct 1;143(7):1706-1719. doi: 10.1002/ijc.31548. Epub 2018 May 7. Int J Cancer. 2018. PMID: 29672841 Free article.
Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis.
Vargiolu M, Silvestri T, Bonora E, Dolzani P, Pulsatelli L, Addimanda O, Mancarella L, Punzi L, Fioravanti A, Facchini A, Romeo G, Meliconi R. Vargiolu M, et al. Among authors: bonora e. Osteoarthritis Cartilage. 2010 Jun;18(6):810-6. doi: 10.1016/j.joca.2010.02.005. Epub 2010 Feb 26. Osteoarthritis Cartilage. 2010. PMID: 20219689 Free article.
GSTT1 and M1 polymorphisms in Hürthle thyroid cancer patients.
Stankov K, Landi S, Gioia-Patricola L, Bonora E, Volante M, Papotti M, Romeo G. Stankov K, et al. Among authors: bonora e. Cancer Lett. 2006 Aug 18;240(1):76-82. doi: 10.1016/j.canlet.2005.08.017. Epub 2006 Jan 20. Cancer Lett. 2006. PMID: 16427734
488 results