Publications

Found 46 results
Filters: Keyword is Brain  [Clear All Filters]
2008
Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P & Zeviani M (2008) Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. Am J Hum Genet 82, 1281-9
2007
Jastroch M, Buckingham JA, Helwig M, Klingenspor M & Brand MD (2007) Functional characterisation of UCP1 in the common carp: uncoupling activity in liver mitochondria and cold-induced expression in the brain. J Comp Physiol B 177, 743-52
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007) Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
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
2005
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G & Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64, 1204-8
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R & Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128, 723-31
Bugiani M, Tiranti V, Farina L, Uziel G & Zeviani M (2005) Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency. J Med Genet 42, e28
2003
Agostino A, Invernizzi F, Tiveron C, Fagiolari G, Prelle A, Lamantea E, Giavazzi A, Battaglia G, Tatangelo L, Tiranti V & Zeviani M (2003) Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Hum Mol Genet 12, 399-413
Crimi M, Galbiati S, Moroni I, Bordoni A, Perini MPaola, Lamantea E, Sciacco M, Zeviani M, Biunno I, Moggio M, Scarlato G & Comi GPietro (2003) A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. Neurology 60, 1857-61
2002
Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F & Walker JE (2002) Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 277, 19289-94
Farina L, Chiapparini L, Uziel G, Bugiani M, Zeviani M & Savoiardo M (2002) MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations. AJNR Am J Neuroradiol 23, 1095-100
Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LDoria, Bado M, Greco M, Zeviani M & Minetti C (2002) A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 17, 233-6
2001
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
Corona P, Antozzi C, Carrara F, D'Incerti L, Lamantea E, Tiranti V & Zeviani M (2001) A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients. Ann Neurol 49, 106-10
1998
Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, Fortunato F, Zeviani M, Napoli L, Bresolin N, Moggio M, Ausenda CD, Taanman JW & Scarlato G (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol 43, 110-6
Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P & Zeviani M (1998) A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. Biochem Biophys Res Commun 245, 519-22
1997
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F & Zeviani M (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63, 16-22
1995
Antozzi C, Franceschetti S, Filippini G, Barbiroli B, Savoiardo M, Fiacchino F, Rimoldi M, Lodi R, Zaniol P & Zeviani M (1995) Epilepsia partialis continua associated with NADH-coenzyme Q reductase deficiency. J Neurol Sci 129, 152-61
1988
DiMauro S, Zeviani M, Servidei S, Prelle A, Miranda AF, Bonilla E & Schon EA (1988) Biochemical and molecular aspects of cytochrome C oxidase deficiency. Adv Neurol 48, 93-105
1987
DiMauro S, Servidei S, Zeviani M, Dirocco M, DeVivo DC, DiDonato S, Uziel G, Berry K, Hoganson G & Johnsen SD (1987) Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 22, 498-506
Servidei S, Lazaro RP, Bonilla E, Barron KD, Zeviani M & DiMauro S (1987) Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency. Neurology 37, 58-63

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