Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation

Por Spiegel, Ronen, Saada, Ann, Flannery, Padraig J, Burté, Florence, Soiferman, Devorah, Khayat, Morad, Eisner, Verónica, Vladovski, Eugene, Taylor, Robert W, Bindoff, Laurence A, Shaag, Avraham, Mandel, Hanna, Schuler-Furman, Ora, Shalev, Stavit A, Elpeleg, Orly, Yu-Wai-Man, Patrick
Publicado no J Med Genet (2016)

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations

Por Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J.P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela, Poulton, Joanna
Publicado no Neurology (2017)