Publications
2009
Ghezzi D, Goffrini P, Uziel G, Horvath R, Klopstock T, Lochmüller H, D'Adamo P, Gasparini P, Strom TM, Prokisch H, Invernizzi F, Ferrero I & Zeviani M (2009)
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy. Nat Genet 41, 654-6
2007
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E, Donati A, Uziel G, Ferrero I & Zeviani M (2007)
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet 16, 1241-52
Klinge S, Hirst J, Maman JD, Krude T & Pellegrini L (2007)
An iron-sulfur domain of the eukaryotic primase is essential for RNA primer synthesis. Nat Struct Mol Biol 14, 875-7
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
2003
Hunsicker-Wang LM, Heine A, Chen Y, Luna EP, Todaro T, Zhang YMing, Williams PA, McRee DE, Hirst J, C Stout D & Fee JA (2003)
High-resolution structure of the soluble, respiratory-type Rieske protein from Thermus thermophilus: analysis and comparison. Biochemistry 42, 7303-17