First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation

por Kamakari, Smaragda, Koutsodontis, George, Tsilimbaris, Miltiadis, Fitsios, Athanasios, Chrousos, Georgia
Publicado 2014

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

por Ng, Yi Shiau, Lax, Nichola Z., Maddison, Paul, Alston, Charlotte L., Blakely, Emma L., Hepplewhite, Philippa D., Riordan, Gillian, Meldau, Surita, Chinnery, Patrick F., Pierre, Germaine, Chronopoulou, Efstathia, Du, Ailian, Hughes, Imelda, Morris, Andrew A., Kamakari, Smaragda, Chrousos, Georgia, Rodenburg, Richard J., Saris, Christiaan G.J., Feeney, Catherine, Hardy, Steven A., Sakakibara, Takafumi, Sudo, Akira, Okazaki, Yasushi, Murayama, Kei, Mundy, Helen, Hanna, Michael G., Ohtake, Akira, Schaefer, Andrew M., Champion, Mike P., Turnbull, Doug M., Taylor, Robert W., Pitceathly, Robert D.S., McFarland, Robert, Gorman, Gráinne S.
Publicado 2018