Publications

Found 10 results
Filters: Keyword is Brain Diseases  [Clear All Filters]
2015
Coughlin CR, Scharer GH, Friederich MW, Yu H-C, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Van Coster R, Powell CA, Swanson MA, Minczuk M, Van Hove JLK & Shaikh TH (2015) Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet 52, 532-40
Bee L, Nasca A, Zanolini A, Cendron F, D'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D & Zeviani M (2015) A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy. EMBO Mol Med 7, 918-29
2014
Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, de Camaret BMousson, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M & Prokisch H (2014) Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet 95, 708-20
2010
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M & Bindoff LA (2010) Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 133, 1428-37
2009
Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M & Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15, 200-5
Da Pozzo P, Cardaioli E, Malfatti E, Gallus GNicola, Malandrini A, Gaudiano C, Berti G, Invernizzi F, Zeviani M & Federico A (2009) A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency. Eur J Hum Genet 17, 1092-6
2004
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
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