Publications

Found 10 results
Filters: Keyword is Kearns-Sayre Syndrome  [Clear All Filters]
2015
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GPietro, Donati MAlice, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FMaria, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco ECaldarazzo, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino MLucia, Vercelli L, Zeviani M & Siciliano G (2015) Redefining phenotypes associated with mitochondrial DNA single deletion. J Neurol 262, 1301-9
2004
Chinnery PF, DiMauro S, Shanske S, Schon EA, Zeviani M, Mariotti C, Carrara F, Lombes A, Laforet P, Ogier H, Jaksch M, Lochmüller H, Horvath R, Deschauer M, Thorburn DR, Bindoff LA, Poulton J, Taylor RW, Matthews JNS & Turnbull DM (2004) Risk of developing a mitochondrial DNA deletion disorder. Lancet 364, 592-6
2003
Puoti G, Carrara F, Sampaolo S, De Caro M, Vincitorio CM, Invernizzi F & Zeviani M (2003) Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son. J Med Genet 40, 858-63
1998
Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA & Rowland LP (1998) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. 1988. Neurology 51, 1525 and 8 pages following
1992
Zeviani M & Antozzi C (1992) Defects of mitochondrial DNA. Brain Pathol 2, 121-32
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
1990
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
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
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