Publications

Found 7 results
Filters: Keyword is Optic Atrophy, Autosomal Dominant  [Clear All Filters]
2016
Yu-Wai-Man P, Hudson G, Klopstock T & Chinnery PF (2016) Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. Brain 139, e18
2015
Rocca MA, Bianchi-Marzoli S, Messina R, Cascavilla MLucia, Zeviani M, Lamperti C, Milesi J, Carta A, Cammarata G, Leocani L, Lamantea E, Bandello F, Comi G, Falini A & Filippi M (2015) Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. J Neurol 262, 1216-27
2014
Barboni P, Savini G, Cascavilla MLucia, Caporali L, Milesi J, Borrelli E, La Morgia C, Valentino MLucia, Triolo G, Lembo A, Carta A, De Negri A, Sadun F, Rizzo G, Parisi V, Pierro L, Marzoli SBianchi, Zeviani M, Sadun AA, Bandello F & Carelli V (2014) Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation. Am J Ophthalmol 158, 628-36.e3
2013
Barboni P, Valentino MLucia, La Morgia C, Carbonelli M, Savini G, De Negri A, Simonelli F, Sadun F, Caporali L, Maresca A, Liguori R, Baruzzi A, Zeviani M & Carelli V (2013) Idebenone treatment in patients with OPA1-mutant dominant optic atrophy. Brain 136, e231
2011
Lodi R, Tonon C, Valentino MLucia, Manners D, Testa C, Malucelli E, La Morgia C, Barboni P, Carbonelli M, Schimpf S, Wissinger B, Zeviani M, Baruzzi A, Liguori R, Barbiroli B & Carelli V (2011) Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations. Arch Neurol 68, 67-73
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
Barboni P, Carbonelli M, Savini G, Foscarini B, Parisi V, Valentino ML, Carta A, De Negri A, Sadun F, Zeviani M, Sadun AA, Schimpf S, Wissinger B & Carelli V (2010) OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Ophthalmology 117, 1547-53