Publications

Found 10 results
Filters: Keyword is Metabolism, Inborn Errors  [Clear All Filters]
2016
Vrbacký M, Kovalčíková J, Chawengsaksophak K, Beck IM, Mráček T, Nůsková H, Sedmera D, Papoušek F, Kolář F, Sobol M, Hozák P, Sedlacek R & Houštěk J (2016) Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice. Hum Mol Genet 25, 4674-4685
2008
Spinazzola A, Santer R, Akman OH, Tsiakas K, Schaefer H, Ding X, Karadimas CL, Shanske S, Ganesh J, Di Mauro S & Zeviani M (2008) Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. Arch Neurol 65, 1108-13
2004
Bugiani M, Invernizzi F, Alberio S, Briem E, Lamantea E, Carrara F, Moroni I, Farina L, Spada M, Donati MA, Uziel G & Zeviani M (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659, 136-47
Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M-T, Vollmer B, Rinaldo P, Hahn SHoun, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P & Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74, 239-52
1996
Zeviani M, Bertagnolio B & Uziel G (1996) Neurological presentations of mitochondrial diseases. J Inherit Metab Dis 19, 504-20
Caruso U, Adami A, Bertini E, Burlina AB, Carnevale F, Cerone R, Dionisi-Vici C, Giordano G, Leuzzi E, Parenti G, Savasta S, Uziel G & Zeviani M (1996) Respiratory-chain and pyruvate metabolism defects: Italian collaborative survey on 72 patients. J Inherit Metab Dis 19, 143-8
1991
Finocchiaro G, Zeviani M, Garavaglia B, Gellera C, Bertagnolio B, Rimoldi M & Di Donato S (1991) [Metabolic myopathies]. Minerva Pediatr 43, 81-9
1988
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
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC & Schon EA (1987) Mitochondrial myopathies. J Inherit Metab Dis 10 Suppl 1, 113-28
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