The Tadpole Pupil: Case Series With Review of the Literature and New Considerations

Por Udry, Morgane, Kardon, Randy H., Sadun, Federico, Kawasaki, Aki
Publicado no Front Neurol (2019)

A very large Brazilian pedigree with 11778 Leber's hereditary optic neuropathy.

Por Sadun, Alfredo A, Carelli, Valerio, Salomao, Solange R, Berezovsky, Adriana, Quiros, Peter, Sadun, Federico, DeNegri, Anna-Maria, Andrade, Rafael, Schein, Stan, Belfort, Rubens
Publicado em 2002

SUBCLINICAL CARRIERS AND CONVERSIONS IN LEBER HEREDITARY OPTIC NEUROPATHY: A PROSPECTIVE PSYCHOPHYSICAL STUDY

Por Sadun, Alfredo A., Salomao, Solange R., Berezovsky, Adriana, Sadun, Federico, DeNegri, Anna Maria, Quiros, Peter A., Chicani, Filipe, Ventura, Dora, Barboni, Piero, Sherman, Jerome, Sutter, Erich, Belfort, Rubens, Carelli, Valerio
Publicado em 2006

Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

Por Carelli, Valerio, d’Adamo, Pio, Valentino, Maria Lucia, La Morgia, Chiara, Ross-Cisneros, Fred N., Caporali, Leonardo, Maresca, Alessandra, Loguercio Polosa, Paola, Barboni, Piero, De Negri, Annamaria, Sadun, Federico, Karanjia, Rustum, Salomao, Solange R., Berezovsky, Adriana, Chicani, Filipe, Moraes, Milton, Moraes Filho, Milton, Belfort, Rubens, Sadun, Alfredo A.
Publicado no Brain (2016)

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Por La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio
Publicado no Sci Rep (2020)

Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

Por La Morgia, Chiara, Maresca, Alessandra, Amore, Giulia, Gramegna, Laura Ludovica, Carbonelli, Michele, Scimonelli, Emanuela, Danese, Alberto, Patergnani, Simone, Caporali, Leonardo, Tagliavini, Francesca, Del Dotto, Valentina, Capristo, Mariantonietta, Sadun, Federico, Barboni, Piero, Savini, Giacomo, Evangelisti, Stefania, Bianchini, Claudio, Valentino, Maria Lucia, Liguori, Rocco, Tonon, Caterina, Giorgi, Carlotta, Pinton, Paolo, Lodi, Raffaele, Carelli, Valerio
Publicado no Sci Rep (2020)

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

Por Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Publicado em 2012

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

Por 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, Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Ventura, Dora Fix, Moraes, Milton, Moraes Filho, Milton, Barboni, Piero, Sadun, Federico, De Negri, Annamaria, Sadun, Alfredo A., Tancredi, Andrea, Mancini, Massimiliano, d’Amati, Giulia, Loguercio Polosa, Paola, Cantatore, Palmiro, Carelli, Valerio
Publicado em 2014