Found 1008 results
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Yan WL, Lerner TJ, Haines JL & Gusella JF (1994) Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Genomics 24, 375-7
Curth U, Urbanke C, Greipel J, Gerberding H, Tiranti V & Zeviani M (1994) Single-stranded-DNA-binding proteins from human mitochondria and Escherichia coli have analogous physicochemical properties. Eur J Biochem 221, 435-43
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
Dyer MR & Walker JE (1993) Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. Biochem J 293 ( Pt 1), 51-64
Zeviani M & Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2, 121-32
Fabrizi GM, Sadlock J, Hirano M, Mita S, Koga Y, Rizzuto R, Zeviani M & Schon EA (1992) Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase. Gene 119, 307-12
Zeviani M (1992) Nucleus-driven mutations of human mitochondrial DNA. J Inherit Metab Dis 15, 456-71
Arenas J, Ricoy JR, Encinas AR, Pola P, D'Iddio S, Zeviani M, DiDonato S & Corsi M (1991) Carnitine in muscle, serum, and urine of nonprofessional athletes: effects of physical exercise, training, and L-carnitine administration. Muscle Nerve 14, 598-604
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
Labeit S, Gibson T, Lakey A, Leonard K, Zeviani M, Knight P, Wardale J & Trinick J (1991) Evidence that nebulin is a protein-ruler in muscle thin filaments. FEBS Lett 282, 313-6
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
Finocchiaro G, Zeviani M, Garavaglia B, Gellera C, Bertagnolio B, Rimoldi M & Di Donato S (1991) [Metabolic myopathies]. Minerva Pediatr 43, 81-9
Moraes CT, Zeviani M, Schon EA, Hickman RO, Vlcek BW & DiMauro S (1991) Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?. Am J Med Genet 41, 301-5
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
Gellera C, Uziel G, Rimoldi M, Zeviani M, Laverda A, Carrara F & DiDonato S (1990) Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology 40, 495-9
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
Zeviani M, Gellera C, Pannacci M, Uziel G, Prelle A, Servidei S & DiDonato S (1990) Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies. Ann Neurol 28, 94-7
Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S & DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339, 309-11
Schon EA, Rizzuto R, Moraes CT, Nakase H, Zeviani M & DiMauro S (1989) A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 244, 346-9
Zeviani M, Bonilla E, DeVivo DC & DiMauro S (1989) Mitochondrial diseases. Neurol Clin 7, 123-56
Moraes CT, DiMauro S, Zeviani M, Lombès A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC & Servidei S (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320, 1293-9