Publications

Found 28 results
Filters: Keyword is Muscular Diseases  [Clear All Filters]
2016
Steele HE, Harris E, Barresi R, Marsh J, Beattie A, Bourke JP, Straub V & Chinnery PF (2016) Cardiac involvement in hereditary myopathy with early respiratory failure: A cohort study. Neurology 87, 1031-5
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
Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M & Van Coster R (2015) Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2). Hum Mutat 36, 222-31
2012
Lamperti C, Diodato D, Lamantea E, Carrara F, Ghezzi D, Mereghetti P, Rizzi R & Zeviani M (2012) MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I. Neuromuscul Disord 22, 990-4
2011
Burgunder J-M, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF & Finsterer J (2011) EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol 18, 207-17
2008
Zeviani M (2008) Train, train, train! No pain, just gain. Brain 131, 2809-11
2007
Cortelli P, Mandrioli J, Zeviani M, Lodi R, Prata C, Pecorari M, Orlando G & Guaraldi G (2007) Mitochondrial complex III deficiency in a case of HCV related noninflammatory myopathy. J Neurol 254, 1450-2
2002
Lamantea E, Carrara F, Mariotti C, Morandi L, Tiranti V & Zeviani M (2002) A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III. Neuromuscul Disord 12, 49-52
1998
Tiranti V, D'Agruma L, Pareyson D, Mora M, Carrara F, Zelante L, Gasparini P & Zeviani M (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation. Ann Neurol 43, 98-101
1994
Mariotti C, Tiranti V, Carrara F, Dallapiccola B, DiDonato S & Zeviani M (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J Clin Invest 93, 1102-7
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
Zeviani M, Gellera C, Antozzi C, Rimoldi M, Morandi L, Villani F, Tiranti V & DiDonato S (1991) Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 338, 143-7
Finocchiaro G, Zeviani M, Garavaglia B, Gellera C, Bertagnolio B, Rimoldi M & Di Donato S (1991) [Metabolic myopathies]. Minerva Pediatr 43, 81-9
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
Lombès A, Mendell JR, Nakase H, Barohn RJ, Bonilla E, Zeviani M, Yates AJ, Omerza J, Gales TL & Nakahara K (1989) Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics. Ann Neurol 26, 20-33
1988
DiMauro S, Zeviani M, Servidei S, Prelle A, Miranda AF, Bonilla E & Schon EA (1988) Biochemical and molecular aspects of cytochrome C oxidase deficiency. Adv Neurol 48, 93-105
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
DiMauro S, Zeviani M, Rizzuto R, Lombès A, Nakase H, Bonilla E, Miranda A & Schon E (1988) Molecular defects in cytochrome oxidase in mitochondrial diseases. J Bioenerg Biomembr 20, 353-64
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
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
DiMauro S, Miranda AF, Sakoda S, Schon EA, Servidei S, Shanske S & Zeviani M (1986) Metabolic myopathies. Am J Med Genet 25, 635-51
Reichmann H, Rohkamm R, Zeviani M, Servidei S, Ricker K & DiMauro S (1986) Mitochondrial myopathy due to complex III deficiency with normal reducible cytochrome b concentration. Arch Neurol 43, 957-61
Zeviani M, Van Dyke DH, Servidei S, Bauserman SC, Bonilla E, Beaumont ET, Sharda J, VanderLaan K & DiMauro S (1986) Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiency. Arch Neurol 43, 1198-202

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