Publications

Found 263 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
1996
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
Pegoraro E, Carelli V, Zeviani M, Cortelli P, Montagna P, Barboni P, Angelini C & Hoffman EP (1996) X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant. Am J Med Genet 61, 356-62
1995
Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H & Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9, 146-51
Tiranti V, Rossi E, Ruiz-Carrillo A, Rossi G, Rocchi M, DiDonato S, Zuffardi O & Zeviani M (1995) Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis. Genomics 25, 559-64
Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S & Zeviani M (1995) Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 242, 547-56
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
Mariotti C, Savarese N, Suomalainen A, Rimoldi M, Comi G, Prelle A, Antozzi C, Servidei S, Jarre L, DiDonato S & Zeviani M (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 242, 304-12
Tiranti V, Chariot P, Carella F, Toscano A, Soliveri P, Girlanda P, Carrara F, Fratta GM, Reid FM, Mariotti C & Zeviani M (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum Mol Genet 4, 1421-7
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
Fabrizi GM, Tiranti V, Mariotti C, Guazzi GC, Malandrini A, DiDonato S & Zeviani M (1995) Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. J Neurol 242, 490-6
1994
Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S & Zeviani M (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J Clin Invest 93, 1102-7
Zeviani M & Taroni F (1994) Mitochondrial diseases. Baillieres Clin Neurol 3, 315-34
Zeviani M, Amati P & Savoia A (1994) Mitochondrial myopathies. Curr Opin Rheumatol 6, 559-67
Prelle A, Fagiolari G, Checcarelli N, Moggio M, Battistel A, Comi GP, Bazzi P, Bordoni A, Zeviani M & Scarlato G (1994) Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level. Acta Neuropathol 87, 371-6
Salmaggi A, Carrara F & Zeviani M (1994) Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA. Int J Neurosci 77, 261-6
1993
Tiranti V, Rocchi M, DiDonato S & Zeviani M (1993) Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). Gene 126, 219-25
Zeviani M, Muntoni F, Savarese N, Serra G, Tiranti V, Carrara F, Mariotti C & DiDonato S (1993) A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. Eur J Hum Genet 1, 80-7
Franceschetti S, Antozzi C, Binelli S, Carrara F, Nardocci N, Zeviani M & Avanzini G (1993) Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases. Acta Neurol Scand 87, 219-23
DiDonato S, Zeviani M, Giovannini P, Savarese N, Rimoldi M, Mariotti C, Girotti F & Caraceni T (1993) Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients. Neurology 43, 2262-8
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
Servidei S, Zeviani M, Manfredi G, Ricci E, Silvestri G, Bertini E, Gellera C, Di Mauro S, Di Donato S & Tonali P (1991) Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. Neurology 41, 1053-9
Tiranti V, Barat-Gueride B, Bijl J, DiDonato S & Zeviani M (1991) A full-length cDNA encoding a mitochondrial DNA-specific single-stranded DNA binding protein from Xenopus laevis. Nucleic Acids Res 19, 4291
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

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