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Page 1
Identification and subcellular localization of a new cystinosin isoform.
Taranta A, Petrini S, Palma A, Mannucci L, Wilmer MJ, De Luca V, Diomedi-Camassei F, Corallini S, Bellomo F, van den Heuvel LP, Levtchenko EN, Emma F. Taranta A, et al. Am J Physiol Renal Physiol. 2008 May;294(5):F1101-8. doi: 10.1152/ajprenal.00413.2007. Epub 2008 Mar 12. Am J Physiol Renal Physiol. 2008. PMID: 18337546 Free article.
Glomerulocystic kidney disease in hypomelanosis of Ito.
Vergine G, Mencarelli F, Diomedi-Camassei F, Caridi G, El Hachem M, Ghiggeri GM, Emma F. Vergine G, et al. Pediatr Nephrol. 2008 Jul;23(7):1183-7. doi: 10.1007/s00467-008-0797-y. Epub 2008 Apr 5. Pediatr Nephrol. 2008. PMID: 18392644
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
103 results