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Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A, Fiermonte G, Dionisi-Vici C, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM. Tessa A, et al. Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930. Hum Mutat. 2009. PMID: 19242930
"Bartter-like" phenotype in Kearns-Sayre syndrome.
Emma F, Pizzini C, Tessa A, Di Giandomenico S, Onetti-Muda A, Santorelli FM, Bertini E, Rizzoni G. Emma F, et al. Among authors: tessa a. Pediatr Nephrol. 2006 Mar;21(3):355-60. doi: 10.1007/s00467-005-2092-5. Epub 2005 Dec 29. Pediatr Nephrol. 2006. PMID: 16382326
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy.
Petruzzella V, Tessa A, Torraco A, Fattori F, Dotti MT, Bruno C, Cardaioli E, Papa S, Federico A, Santorelli FM. Petruzzella V, et al. Among authors: tessa a. Biochem Biophys Res Commun. 2007 Mar 30;355(1):181-7. doi: 10.1016/j.bbrc.2007.01.140. Epub 2007 Feb 2. Biochem Biophys Res Commun. 2007. PMID: 17292333
Infantile mitochondrial disorders.
Carrozzo R, Piemonte F, Tessa A, Lucioli S, Rizza T, Meschini MC, Fattori F, Santorelli FM. Carrozzo R, et al. Among authors: tessa a. Biosci Rep. 2007 Jun;27(1-3):105-12. doi: 10.1007/s10540-007-9039-y. Biosci Rep. 2007. PMID: 17486440 Review.
193 results