Publications

Found 60 results
Filters: Keyword is Phenotype  [Clear All Filters]
1998
Zeviani M, Tiranti V & Piantadosi C (1998) Mitochondrial disorders. Medicine (Baltimore) 77, 59-72
1997
Uziel G, Moroni I, Lamantea E, Fratta GM, Ciceri E, Carrara F & Zeviani M (1997) Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 63, 16-22
Zeviani M & Antozzi C (1997) Mitochondrial disorders. Mol Hum Reprod 3, 133-48
1996
Serra G, Piccinnu R, Tondi M, Muntoni F, Zeviani M & Mastropaolo C (1996) Clinical and EEG findings in eleven patients affected by mitochondrial encephalomyopathy with MERRF-MELAS overlap. Brain Dev 18, 185-91
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
1995
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
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
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
1989
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

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