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208 results

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Page 1
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.
Renal mitochondrial cytopathies.
Emma F, Montini G, Salviati L, Dionisi-Vici C. Emma F, et al. Among authors: salviati l. Int J Nephrol. 2011;2011:609213. doi: 10.4061/2011/609213. Epub 2011 Jul 27. Int J Nephrol. 2011. PMID: 21811680 Free PMC article.
Mitochondrial cytopathies and the kidney.
Emma F, Salviati L. Emma F, et al. Among authors: salviati l. Nephrol Ther. 2017 Apr;13 Suppl 1:S23-S28. doi: 10.1016/j.nephro.2017.01.014. Nephrol Ther. 2017. PMID: 28577739 Review.
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
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D. Nasca A, et al. Among authors: salviati l. Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. Orphanet J Rare Dis. 2017. PMID: 28494813 Free PMC article.
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.
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.
208 results