Publications

Found 1008 results
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1998
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R & Zeviani M (1998) Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics 54, 494-504
Zeviani M, Tiranti V & Piantadosi C (1998) Mitochondrial disorders. Medicine (Baltimore) 77, 59-72
Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T & Zeviani M (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63, 1609-21
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
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P & Zeviani M (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 43, 98-101
Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R, Dürr A, Fontaine B & Ballabio A (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93, 973-83
Scaioli V, Antozzi C, Villani F, Rimoldi M, Zeviani M, Panzica F & Avanzini G (1998) Utility of multimodal evoked potential study and electroencephalography in mitochondrial encephalomyopathy. Ital J Neurol Sci 19, 291-300
1997
Antozzi C & Zeviani M (1997) Cardiomyopathies in disorders of oxidative metabolism. Cardiovasc Res 35, 184-99
Prats E, Noël M, Létourneau J, Tiranti V, Vaqué J, Debón R, Zeviani M, Cornudella L & Ruiz-Carrillo A (1997) Characterization and expression of the mouse endonuclease G gene. DNA Cell Biol 16, 1111-22
Zeviani M, Fernandez-Silva P & Tiranti V (1997) Disorders of mitochondria and related metabolism. Curr Opin Neurol 10, 160-7
Zeviani M, Petruzzella V & Carrozzo R (1997) Disorders of nuclear-mitochondrial intergenomic signalling. J Bioenerg Biomembr 29, 121-30
Battaglia G, Princivalle A, Forti F, Lizier C & Zeviani M (1997) Expression of the SMN gene, the spinal muscular atrophy determining gene, in the mammalian central nervous system. Hum Mol Genet 6, 1961-71
Torroni A, Petrozzi M, D'Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A & Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60, 1107-21
Tiranti V, Savoia A, Forti F, D'Apolito MF, Centra M, Rocchi M & Zeviani M (1997) Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet 6, 615-25
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
Zeviani M & Antozzi C (1997) Mitochondrial disorders. Mol Hum Reprod 3, 133-48
Tengan CH, Gabbai AA, Shanske S, Zeviani M & Moraes CT (1997) Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle. Mutat Res 379, 1-11
Munaro M, Tiranti V, Sandonà D, Lamantea E, Uziel G, Bisson R & Zeviani M (1997) A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome. Hum Mol Genet 6, 221-8
Luh FY, Archer SJ, Domaille PJ, Smith BO, Owen D, Brotherton DH, Raine AR, Xu X, Brizuela L, Brenner SL & Laue ED (1997) Structure of the cyclin-dependent kinase inhibitor p19Ink4d. Nature 389, 999-1003
1996
Kaukonen JA, Amati P, Suomalainen A, Rotig A, Piscaglia MG, Salvi F, Weissenbach J, Fratta G, Comi G, Peltonen L & Zeviani M (1996) An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. Am J Hum Genet 58, 763-9
Scrutton NS & Raine AR (1996) Cation-pi bonding and amino-aromatic interactions in the biomolecular recognition of substituted ammonium ligands. Biochem J 319 ( Pt 1), 1-8
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M & Mastropaolo C (1996) Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev 18, 185-91
Malandrini A, Carrera P, Palmeri S, Cavallaro T, Fabrizi GM, Villanova M, Fattapposta M, Vismara L, Brancolini V, Tanganelli P, Calì A, Morocutti C, Zeviani M, Ferrari M & Guazzi GC (1996) Clinicopathological and genetic studies of two further Italian families with cerebral autosomal dominant arteriopathy. Acta Neuropathol 92, 115-22
Dunbar DR, Moonie PA, Zeviani M & Holt IJ (1996) Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum Mol Genet 5, 123-29
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20

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