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    • Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy 

      Giordano, Carla; Iommarini, Luisa; Giordano, Luca; Maresca, Alessandra; Pisano, Annalinda; Valentino, Maria Lucia; Caporali, Leonardo; Liguori, Rocco; Deceglie, Stefania; Roberti, Marina; Fanelli, Francesca; Fracasso, Flavio; Ross-Cisneros, Fred N.; D'Adamo, Pio; Hudson, Gavin; Pyle, Angela; Yu-Wai-Man, Patrick; Chinnery, Patrick F.; Zeviani, Massimo; Salomão, Solange Rios [UNIFESP]; Berezovsky, Adriana [UNIFESP]; Belfort, Rubens Junior [UNIFESP]; Ventura, Dora Fix; Moraes, Milton Nunes de[UNIFESP]; Moraes-Filho, Milton Nunes de[UNIFESP]; Barboni, Piero; Sadun, Federico; De Negri, Annamaria; Sadun, Alfredo A.; Tancredi, Andrea; Mancini, Massimiliano; d'Amati, Giulia; Polosa, Paola Loguercio; Cantatore, Palmiro; Carelli, Valerio (Oxford Univ Press, 2014-02-01)
      Leber's hereditary optic neuropathy is a maternally inherited blinding disease caused as a result of homoplasmic point mutations in complex I subunit genes of mitochondrial DNA. It is characterized by incomplete penetrance, ...