Publications

Found 263 results
Filters: Keyword is DNA, Mitochondrial  [Clear All Filters]
1991
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
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
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
1989
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
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
1988
Schon EA, Bonilla E, Lombès A, Moraes CT, Nakase H, Rizzuto R, Zeviani M & DiMauro S (1988) Clinical and biochemical studies on cytochrome oxidase deficiencies. Ann N Y Acad Sci 550, 348-59
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA & Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38, 1339-46
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
Fearnley IM & Walker JE (1986) Two overlapping genes in bovine mitochondrial DNA encode membrane components of ATP synthase. EMBO J 5, 2003-8
1985
DiMauro S, Bonilla E, Zeviani M, Nakagawa M & DeVivo DC (1985) Mitochondrial myopathies. Ann Neurol 17, 521-38

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