Publications

Found 4 results
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2015
Ghezzi D, Canavese C, Kovacevic G, Zamurovic D, Barzaghi C, Giorgi C, Zorzi G, Zeviani M, Pinton P, Garavaglia B & Nardocci N (2015) A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. Eur J Paediatr Neurol 19, 64-8
2012
Achilli A, Iommarini L, Olivieri A, Pala M, Kashani BHooshiar, Reynier P, La Morgia C, Valentino MLucia, Liguori R, Pizza F, Barboni P, Sadun F, De Negri AMaria, Zeviani M, Dollfus H, Moulignier A, Ducos G, Orssaud C, Bonneau D, Procaccio V, Leo-Kottler B, Fauser S, Wissinger B, Amati-Bonneau P, Torroni A & Carelli V (2012) Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One 7, e42242
2011
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F & Poulton J (2011) Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. J Med Genet 48, 660-668
2010
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P & Chinnery PF (2010) Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133, 771-86