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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: clementi m. 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
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: clementi m. 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.
Is there a link between COQ6 and schwannomatosis?
Trevisson E, Clementi M, Salviati L. Trevisson E, et al. Among authors: clementi m. Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211. Genet Med. 2015. PMID: 25835193 Free article. No abstract available.
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L. Casarin A, et al. Among authors: m davidson m, clementi m. Orphanet J Rare Dis. 2012 Apr 19;7:21. doi: 10.1186/1750-1172-7-21. Orphanet J Rare Dis. 2012. PMID: 22515166 Free PMC article.
Genetic susceptibility to teratogens: state of the art.
Cassina M, Salviati L, Di Gianantonio E, Clementi M. Cassina M, et al. Among authors: clementi m. Reprod Toxicol. 2012 Sep;34(2):186-91. doi: 10.1016/j.reprotox.2012.05.004. Epub 2012 Jun 1. Reprod Toxicol. 2012. PMID: 22659091 Review.
825 results