Publications
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
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
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
1989
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
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
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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