The 13042G→A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype

Por Valentino, M L, Barboni, P, Rengo, C, Achilli, A, Torroni, A, Lodi, R, Tonon, C, Barbiroli, B, Fortuna, F, Montagna, P, Baruzzi, A, Carelli, V
Publicado em 2006

Allogeneic stem cell transplantation corrects biochemical derangements in MNGIE

Por Hirano, M., Martí, R., Casali, C., Tadesse, S., Uldrick, T., Fine, B., Escolar, D.M., Valentino, M.L., Nishino, I., Hesdorffer, C., Schwartz, J., Hawks, R.G., Martone, D.L., Cairo, M.S., DiMauro, S., Stanzani, M., Garvin, J.H., Savage, D.G.
Publicado no Neurology (2006)

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

Por Giordano, L, Deceglie, S, d'Adamo, P, Valentino, M L, La Morgia, C, Fracasso, F, Roberti, M, Cappellari, M, Petrosillo, G, Ciaravolo, S, Parente, D, Giordano, C, Maresca, A, Iommarini, L, Del Dotto, V, Ghelli, A M, Salomao, S R, Berezovsky, A, Belfort, R, Sadun, A A, Carelli, V, Loguercio Polosa, P, Cantatore, P
Publicado no Cell Death Dis (2015)

Multi-system neurological disease is common in patients with OPA1 mutations

Por Yu-Wai-Man, P., Griffiths, P.G., Gorman, G.S., Lourenco, C.M., Wright, A.F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M.L., Caporali, L., Lamperti, C., Tallaksen, C.M., Duffey, P., Miller, J., Whittaker, R.G., Baker, M.R., Jackson, M.J., Clarke, M.P., Dhillon, B., Czermin, B., Stewart, J.D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R.W., Turnbull, D.M., Votruba, M., Zeviani, M., Carelli, V., Bindoff, L.A., Horvath, R., Amati-Bonneau, P., Chinnery, P.F.
Publicado em 2010