Publications

Found 11 results
Filters: Keyword is Chromosome Deletion  [Clear All Filters]
1998
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
1992
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
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
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
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
DiMauro S, Zeviani M, Moraes CT, Nakase H, Rizzuto R, Lombès A, Shanske S & Schon EA (1989) Mitochondrial encephalomyopathies. Prog Clin Biol Res 306, 117-28
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
Bonilla E, Miranda AF, Prelle A, Salviati G, Betto R, Zeviani M, Schon EA, DiMauro S & Rowland LP (1988) Immunocytochemical study of nebulin in Duchenne muscular dystrophy. Neurology 38, 1600-3