Publications

Found 221 results
Filters: Keyword is Mutation  [Clear All Filters]
1997
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
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
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
Kunji ERS, Mierau I, Poolman B, Konings WN, Venema G & Kok J (1996) Fate of peptides in peptidase mutants of Lactococcus lactis. Mol Microbiol 21, 123-31
Mierau I, Kunji ERS, Leenhouts KJ, Hellendoorn MA, Haandrikman AJ, Poolman B, Konings WN, Venema G & Kok J (1996) Multiple-peptidase mutants of Lactococcus lactis are severely impaired in their ability to grow in milk. J Bacteriol 178, 2794-803
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
1995
Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P & Zeviani M (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80, 155-65
Zeviani M, Mariotti C, Antozzi C, Fratta GM, Rustin P & Prelle A (1995) OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy. Muscle Nerve Suppl 3, S170-4
Zeviani M, Amati P, Comi G, Fratta G, Mariotti C & Tiranti V (1995) Searching for genes affecting the structural integrity of the mitochondrial genome. Biochim Biophys Acta 1271, 153-8
Foucaud C, Kunji ERS, Hagting A, Richard J, Konings WN, Desmazeaud M & Poolman B (1995) Specificity of peptide transport systems in Lactococcus lactis: evidence for a third system which transports hydrophobic di- and tripeptides. J Bacteriol 177, 4652-7
Wilkens S, Dahlquist FW, McIntosh LP, Donaldson LW & Capaldi RA (1995) Structural features of the epsilon subunit of the Escherichia coli ATP synthase determined by NMR spectroscopy. Nat Struct Biol 2, 961-7
1994
Zeviani M & Taroni F (1994) Mitochondrial diseases. Baillieres Clin Neurol 3, 315-34
1992
Zeviani M & Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2, 121-32
Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15, 456-71
1991
Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V & DiDonato S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338, 143-7
Zeviani M & DiDonato S (1991) Neurological disorders due to mutations of the mitochondrial genome. Neuromuscul Disord 1, 165-72
Zeviani M, Amati P, Bresolin N, Antozzi C, Piccolo G, Toscano A & DiDonato S (1991) Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 48, 203-11
1990
Zeviani M, Bresolin N, Gellera C, Bordoni A, Pannacci M, Amati P, Moggio M, Servidei S, Scarlato G & DiDonato S (1990) Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. Am J Hum Genet 47, 904-14
1986
DiMauro S, Zeviani M, Servidei S, Bonilla E, Miranda AF, Prelle A & Schon EA (1986) Cytochrome oxidase deficiency: clinical and biochemical heterogeneity. Ann N Y Acad Sci 488, 19-32
1984
Walker JE, Saraste M & Gay NJ (1984) The unc operon. Nucleotide sequence, regulation and structure of ATP-synthase. Biochim Biophys Acta 768, 164-200

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