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Correction: Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P. Doni D, et al. Among authors: sartori g. Cell Death Dis. 2024 Jan 29;15(1):93. doi: 10.1038/s41419-024-06459-2. Cell Death Dis. 2024. PMID: 38287008 Free PMC article. No abstract available.
Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.
Ancora C, Marchi M, Bonardi CM, Sartori G, Lopreiato R, Zuccarello D, D'Errico I, Nosadini M, Sartori S, Boniver C, Toldo I, Salviati L. Ancora C, et al. Among authors: sartori s, sartori g. Pediatr Neurol. 2023 Nov;148:152-156. doi: 10.1016/j.pediatrneurol.2023.08.018. Epub 2023 Aug 19. Pediatr Neurol. 2023. PMID: 37722301
Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain.
Doni D, Cavion F, Bortolus M, Baschiera E, Muccioli S, Tombesi G, d'Ettorre F, Ottaviani D, Marchesan E, Leanza L, Greggio E, Ziviani E, Russo A, Bellin M, Sartori G, Carbonera D, Salviati L, Costantini P. Doni D, et al. Among authors: sartori g. Cell Death Dis. 2023 Dec 8;14(12):805. doi: 10.1038/s41419-023-06320-y. Cell Death Dis. 2023. PMID: 38062036 Free PMC article.
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. Among authors: sartori g. J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394. J Med Genet. 2012. PMID: 22368301 Free PMC article.
379 results