Publications

Found 101 results
Filters: Keyword is Mitochondrial Diseases  [Clear All Filters]
2014
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco ECaldarazzo, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M & Siciliano G (2014) Myoclonus in mitochondrial disorders. Mov Disord 29, 722-8
Cerutti R, Pirinen E, Lamperti C, Marchet S, Sauve AA, Li W, Leoni V, Schon EA, Dantzer F, Auwerx J, Viscomi C & Zeviani M (2014) NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease. Cell Metab 19, 1042-9
2013
Salsano E, Farina L, Lamperti C, Piscosquito G, Salerno F, Morandi L, Carrara F, Lamantea E, Zeviani M, Uziel G, Savoiardo M & Pareyson D (2013) Adult-onset leukodystrophies from respiratory chain disorders: do they exist?. J Neurol 260, 1617-23
Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, DiMauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS & Prokisch H (2013) Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet 45, 214-9
Pearce S, Nezich CLaura & Spinazzola A (2013) Mitochondrial diseases: translation matters. Mol Cell Neurosci 55, 1-12
Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J & Chinnery PF (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9, 474-81
Pareyson D, Piscosquito G, Moroni I, Salsano E & Zeviani M (2013) Peripheral neuropathy in mitochondrial disorders. Lancet Neurol 12, 1011-24
Porteous CM, Menon DK, Aigbirhio FI, Smith RAJ & Murphy MP (2013) P-glycoprotein (Mdr1a/1b) and breast cancer resistance protein (Bcrp) decrease the uptake of hydrophobic alkyl triphenylphosphonium cations by the brain. Biochim Biophys Acta 1830, 3458-65
2012
Zeviani M, Simonati A & Bindoff LA (2012) Ataxia in mitochondrial disorders. Handb Clin Neurol 103, 359-72
Mancuso M, Angelini C, Bertini E, Carelli V, Comi GP, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Zeviani M & Siciliano G (2012) Fatigue and exercise intolerance in mitochondrial diseases. Literature revision and experience of the Italian Network of mitochondrial diseases. Neuromuscul Disord 22 Suppl 3, S226-9
Invernizzi F, D'Amato I, Jensen PB, Ravaglia S, Zeviani M & Tiranti V (2012) Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells. Mitochondrion 12, 328-35
Smith RAJ, Hartley RC, Cochemé HM & Murphy MP (2012) Mitochondrial pharmacology. Trends Pharmacol Sci 33, 341-52
Sanchez-Martinez A, Calleja M, Peralta S, Matsushima Y, Hernandez-Sierra R, Whitworth AJ, Kaguni LS & Garesse R (2012) Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. PLoS One 7, e43954
Haack TB, Haberberger B, Frisch E-M, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T & Prokisch H (2012) Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet 49, 277-83
Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rötig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P & Prokisch H (2012) Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet 49, 83-9
Indrieri A, van Rahden VAlexandra, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M & Franco B (2012) Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 91, 942-9
2011
Rogac M, Meznaric M, Zeviani M, Sperl W & Neubauer D (2011) Functional outcome of children with mitochondrial diseases. Pediatr Neurol 44, 340-6
Smith AC & Robinson AJ (2011) A metabolic model of the mitochondrion and its use in modelling diseases of the tricarboxylic acid cycle. BMC Syst Biol 5, 102
Spinazzola A (2011) Mitochondrial DNA mutations and depletion in pediatric medicine. Semin Fetal Neonatal Med 16, 190-6
Baruffini E, Horvath R, Dallabona C, Czermin B, Lamantea E, Bindoff L, Invernizzi F, Ferrero I, Zeviani M & Lodi T (2011) Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model. Mitochondrion 11, 182-90
2010
Minczuk M (2010) Engineered zinc finger proteins for manipulation of the human mitochondrial genome. Methods Mol Biol 649, 257-70
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M & Bindoff LA (2010) Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133, 1428-37
Porteous CM, Logan A, Evans C, Ledgerwood EC, Menon DK, Aigbirhio F, Smith RAJ & Murphy MP (2010) Rapid uptake of lipophilic triphenylphosphonium cations by mitochondria in vivo following intravenous injection: implications for mitochondria-specific therapies and probes. Biochim Biophys Acta 1800, 1009-17
Poulton J, Chiaratti MR, Meirelles FV, Kennedy S, Wells D & Holt IJ (2010) Transmission of mitochondrial DNA diseases and ways to prevent them. PLoS Genet 6
2009
Fernandez-Vizarra E, Tiranti V & Zeviani M (2009) Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. Biochim Biophys Acta 1793, 200-11

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