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Page 1
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: lamorgia c. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
Leber's hereditary optic neuropathy with childhood onset.
Barboni P, Savini G, Valentino ML, La Morgia C, Bellusci C, De Negri AM, Sadun F, Carta A, Carbonelli M, Sadun AA, Carelli V. Barboni P, et al. Invest Ophthalmol Vis Sci. 2006 Dec;47(12):5303-9. doi: 10.1167/iovs.06-0520. Invest Ophthalmol Vis Sci. 2006. PMID: 17122117
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Amati-Bonneau P, Valentino ML, Reynier P, Gallardo ME, Bornstein B, Boissière A, Campos Y, Rivera H, de la Aleja JG, Carroccia R, Iommarini L, Labauge P, Figarella-Branger D, Marcorelles P, Furby A, Beauvais K, Letournel F, Liguori R, La Morgia C, Montagna P, Liguori M, Zanna C, Rugolo M, Cossarizza A, Wissinger B, Verny C, Schwarzenbacher R, Martín MA, Arenas J, Ayuso C, Garesse R, Lenaers G, Bonneau D, Carelli V. Amati-Bonneau P, et al. Brain. 2008 Feb;131(Pt 2):338-51. doi: 10.1093/brain/awm298. Epub 2007 Dec 24. Brain. 2008. PMID: 18158317 Free article.
Melanopsin retinal ganglion cells are resistant to neurodegeneration in mitochondrial optic neuropathies.
La Morgia C, Ross-Cisneros FN, Sadun AA, Hannibal J, Munarini A, Mantovani V, Barboni P, Cantalupo G, Tozer KR, Sancisi E, Salomao SR, Moraes MN, Moraes-Filho MN, Heegaard S, Milea D, Kjer P, Montagna P, Carelli V. La Morgia C, et al. Brain. 2010 Aug;133(Pt 8):2426-38. doi: 10.1093/brain/awq155. Epub 2010 Jul 21. Brain. 2010. PMID: 20659957 Free PMC article.
Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations.
Lodi R, Tonon C, Valentino ML, 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. Lodi R, et al. Arch Neurol. 2011 Jan;68(1):67-73. doi: 10.1001/archneurol.2010.228. Epub 2010 Sep 13. Arch Neurol. 2011. PMID: 20837821
Leber's Hereditary Optic Neuropathy.
Sadun AA, La Morgia C, Carelli V. Sadun AA, et al. Curr Treat Options Neurol. 2011 Feb;13(1):109-17. doi: 10.1007/s11940-010-0100-y. Curr Treat Options Neurol. 2011. PMID: 21063922
156 results