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Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Valentino ML, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: salviati l. Neurogenetics. 2016 Apr;17(2):143. doi: 10.1007/s10048-016-0475-3. Neurogenetics. 2016. PMID: 26924555 No abstract available.
Renal involvement in mitochondrial cytopathies.
Emma F, Bertini E, Salviati L, Montini G. Emma F, et al. Among authors: salviati l. Pediatr Nephrol. 2012 Apr;27(4):539-50. doi: 10.1007/s00467-011-1926-6. Epub 2011 Jun 9. Pediatr Nephrol. 2012. PMID: 21656172 Free PMC article. Review.
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: salviati l. 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: salviati l. 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.
Genetics of coenzyme q10 deficiency.
Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L. Doimo M, et al. Among authors: salviati l. Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826. Mol Syndromol. 2014. PMID: 25126048 Free PMC article.
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M. Cassina M, et al. Among authors: salviati l. Am J Med Genet A. 2015 Jun;167(6):1418-20. doi: 10.1002/ajmg.a.37033. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900767 No abstract available.
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: salviati l. Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Neurogenetics. 2016. PMID: 26556812
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Lucia Valentino M, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: salviati l. Neurogenetics. 2017 Jan;18(1):69. doi: 10.1007/s10048-016-0501-5. Neurogenetics. 2017. PMID: 27913898 No abstract available.
200 results