Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

Por Rosser, Lyndon G., McKee, Shane, Millar, David S., Archer, Hayley, Hughes, James, Butler, Rachel, Chuzhanova, Nadia, Cooper, David N., Lazarou, Lazarus P.
Publicado em 2008

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)