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Page 1
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Among authors: salviati l. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Forzan M, et al. Among authors: salviati l. J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893581
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P. Salviati L, et al. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Among authors: salviati l. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Rusconi D, et al. Among authors: salviati l. Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25. Hum Genet. 2015. PMID: 25805166 Free article. Clinical Trial.
The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. Desbats MA, et al. Among authors: salviati l. Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4. Hum Mol Genet. 2016. PMID: 27493029
208 results