Publications

Found 34 results
Filters: Keyword is Mitochondrial Encephalomyopathies  [Clear All Filters]
2017
Bénit P, Pelhaître A, Saunier E, Bortoli S, Coulibaly A, Rak M, Schiff M, Kroemer G, Zeviani M & Rustin P (2017) Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency. EBioMedicine 17, 75-87
2014
Torres-Torronteras J, Viscomi C, Cabrera-Pérez R, Cámara Y, Di Meo I, Barquinero J, Auricchio A, Pizzorno G, Hirano M, Zeviani M & Martí R (2014) Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Mol Ther 22, 901-7
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati A, Minetti C, Moggio M, Mongini T, Servidei S, Tonin P, Toscano A, Uziel G, Bruno C, Ienco ECaldarazzo, Filosto M, Lamperti C, Catteruccia M, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Santorelli FMaria, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2014) The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?. J Neurol 261, 504-10
Diodato D, Melchionda L, Haack TB, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk MA, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M & Ghezzi D (2014) VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. Hum Mutat 35, 983-9
2013
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C & Zeviani M (2013) A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity. Hum Mutat 34, 1619-22
Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong L-J, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ & Zeviani M (2013) Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet 93, 482-95
2012
Lamperti C, Fang M, Invernizzi F, Liu X, Wang H, Zhang Q, Carrara F, Moroni I, Zeviani M, Zhang J & Ghezzi D (2012) A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 107, 403-8
2011
Uziel G, Ghezzi D & Zeviani M (2011) Infantile mitochondrial encephalopathy. Semin Fetal Neonatal Med 16, 205-15
2010
Ghezzi D, Sevrioukova I, Invernizzi F, Lamperti C, Mora M, D'Adamo P, Novara F, Zuffardi O, Uziel G & Zeviani M (2010) Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. Am J Hum Genet 86, 639-49
2009
Poulton J & Holt IJ (2009) 163rd ENMC International Workshop: nucleoid and nucleotide biology in syndromes of mitochondrial DNA depletion myopathy 12-14 December 2008, Naarden, The Netherlands. Neuromuscul Disord 19, 439-43
Spinazzola A, Invernizzi F, Carrara F, Lamantea E, Donati A, Dirocco M, Giordano I, Meznaric-Petrusa M, Baruffini E, Ferrero I & Zeviani M (2009) Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 32, 143-58
Lamperti C & Zeviani M (2009) Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk. Acta Myol 28, 2-11
Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M & Tiranti V (2009) Identification of novel mutations in five patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1787, 491-501
Cesaroni E, Scarpelli M, Zamponi N, Polonara G & Zeviani M (2009) Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. Pediatr Neurol 41, 131-4
Valente L, Shigi N, Suzuki T & Zeviani M (2009) The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex. Biochim Biophys Acta 1792, 791-5
2008
Chinnery PF & Zeviani M (2008) 155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands. Neuromuscul Disord 18, 259-67
Galassi G, Lamantea E, Invernizzi F, Tavani F, Pisano I, Ferrero I, Palmieri L & Zeviani M (2008) Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy. Neuromuscul Disord 18, 465-70
Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O & Zeviani M (2008) FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency. Am J Hum Genet 83, 415-23
2007
Alberio S, Mineri R, Tiranti V & Zeviani M (2007) Depletion of mtDNA: syndromes and genes. Mitochondrion 7, 6-12
Valente L, Tiranti V, Marsano RMassimilia, Malfatti E, Fernandez-Vizarra E, Donnini C, Mereghetti P, De Gioia L, Burlina A, Castellan C, Comi GP, Savasta S, Ferrero I & Zeviani M (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet 80, 44-58
Malfatti E, Bugiani M, Invernizzi F, de Souza CFischinger, Farina L, Carrara F, Lamantea E, Antozzi C, Confalonieri P, Sanseverino MTeresa, Giugliani R, Uziel G & Zeviani M (2007) Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain 130, 1894-904
2006
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M & Chinnery PF (2006) Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 129, 1674-84
2001
Gasser T, Dichgans M, Finsterer J, Hausmanowa-Petrusewicz I, Jurkat-Rott K, Klopstock T, Leguern E, Lehesjoki AE, Lehmann-Horn F, Lynch T, Morris H, Rossor M, Steinlein OK, Wood N, Zaremba J, Zeviani M & Zoharn A (2001) EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts. Eur J Neurol 8, 407-24
Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M & Avanzini G (2001) Epileptic phenotypes associated with mitochondrial disorders. Neurology 56, 1340-6
2000
Börner GV, Zeviani M, Tiranti V, Carrara F, Hoffmann S, Gerbitz KD, Lochmüller H, Pongratz D, Klopstock T, Melberg A, Holme E & Pääbo S (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Genet 9, 467-75

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