Publications

Found 11 results
Filters: Keyword is Biopsy  [Clear All Filters]
2012
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L & Zeviani M (2012) Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy. Neuromuscul Disord 22, 50-5
2009
Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M & Zeviani M (2009) Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol 50, 215-21
2008
Tuppen HAL, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM & Taylor RW (2008) Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations. J Med Genet 45, 55-61
2002
Bruno C, Biancheri R, Garavaglia B, Biedi C, Rossi A, Lamba LDoria, Bado M, Greco M, Zeviani M & Minetti C (2002) A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. J Child Neurol 17, 233-6
2001
Napoli L, Bordoni A, Zeviani M, Hadjigeorgiou GM, Sciacco M, Tiranti V, Terentiou A, Moggio M, Papadimitriou A, Scarlato G & Comi GP (2001) A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. Neurology 57, 2295-8
1995
Mariotti C, Uziel G, Carrara F, Mora M, Prelle A, Tiranti V, DiDonato S & Zeviani M (1995) Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study. J Neurol 242, 547-56
1988
Servidei S, Shanske S, Zeviani M, Lebo R, Fletterick R & DiMauro S (1988) McArdle's disease: biochemical and molecular genetic studies. Ann Neurol 24, 774-81
Montagna P, Gallassi R, Medori R, Govoni E, Zeviani M, Di Mauro S, Lugaresi E & Andermann F (1988) MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 38, 751-4
1987
Zeviani M, Peterson P, Servidei S, Bonilla E & DiMauro S (1987) Benign reversible muscle cytochrome c oxidase deficiency: a second case. Neurology 37, 64-7
Servidei S, Lazaro RP, Bonilla E, Barron KD, Zeviani M & DiMauro S (1987) Mitochondrial encephalomyopathy and partial cytochrome c oxidase deficiency. Neurology 37, 58-63
1985
Zeviani M, Nonaka I, Bonilla E, Okino E, Moggio M, Jones S & DiMauro S (1985) Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient. Ann Neurol 17, 414-7