Keeping in Shape the Dogma of Mitochondrial DNA Maternal Inheritance

by Carelli, Valerio
Published 2015

DNA methyltransferase 1 mutations and mitochondrial pathology: is mtDNA methylated?

by Maresca, Alessandra, Zaffagnini, Mirko, Caporali, Leonardo, Carelli, Valerio, Zanna, Claudia
Published 2015

The effects of idebenone on mitochondrial bioenergetics

by Giorgio, Valentina, Petronilli, Valeria, Ghelli, Anna, Carelli, Valerio, Rugolo, Michela, Lenaz, Giorgio, Bernardi, Paolo
Published 2012

The optic nerve: A “mito-window” on mitochondrial neurodegeneration

by Maresca, Alessandra, la Morgia, Chiara, Caporali, Leonardo, Valentino, Maria Lucia, Carelli, Valerio
Published 2013

A neurodegenerative perspective on mitochondrial optic neuropathies

by Yu-Wai-Man, Patrick, Votruba, Marcela, Burté, Florence, La Morgia, Chiara, Barboni, Piero, Carelli, Valerio
Published 2016

Medical Management of Hereditary Optic Neuropathies

by La Morgia, Chiara, Carbonelli, Michele, Barboni, Piero, Sadun, Alfredo Arrigo, Carelli, Valerio
Published 2014

Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

by Hudson, Gavin, Yu-Wai-Man, Patrick, Griffiths, Philip G., Horvath, Rita, Carelli, Valerio, Zeviani, Massimo, Chinnery, Patrick F.
Published 2011

Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?

by Carelli, Valerio, Franceschini, Flavia, Venturi, Silvia, Barboni, Piero, Savini, Giacomo, Barbieri, Giuseppe, Pirro, Ettore, La Morgia, Chiara, Valentino, Maria L., Zanardi, Francesca, Violante, Francesco S., Mattioli, Stefano
Published 2007

A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy

by Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Published 2013

A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck

by Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L., Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Published 2014

OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

by Santarelli, Rosamaria, Rossi, Roberta, Scimemi, Pietro, Cama, Elona, Valentino, Maria Lucia, La Morgia, Chiara, Caporali, Leonardo, Liguori, Rocco, Magnavita, Vincenzo, Monteleone, Anna, Biscaro, Ariella, Arslan, Edoardo, Carelli, Valerio
Published 2015

Secondary Post-Geniculate Involvement in Leber’s Hereditary Optic Neuropathy

by Rizzo, Giovanni, Tozer, Kevin R., Tonon, Caterina, Manners, David, Testa, Claudia, Malucelli, Emil, Valentino, Maria Lucia, La Morgia, Chiara, Barboni, Piero, Randhawa, Ruvdeep S., Ross-Cisneros, Fred N., Sadun, Alfredo A., Carelli, Valerio, Lodi, Raffaele
Published 2012

Liver as a Source for Thymidine Phosphorylase Replacement in Mitochondrial Neurogastrointestinal Encephalomyopathy

by Boschetti, Elisa, D’Alessandro, Roberto, Bianco, Francesca, Carelli, Valerio, Cenacchi, Giovanna, Pinna, Antonio D., Gaudio, Massimo Del, Rinaldi, Rita, Stanghellini, Vincenzo, Pironi, Loris, Rhoden, Kerry, Tugnoli, Vitaliano, Casali, Carlo, De Giorgio, Roberto
Published 2014

Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

by La Morgia, Chiara, Caporali, Leonardo, Gandini, Francesca, Olivieri, Anna, Toni, Francesco, Nassetti, Stefania, Brunetto, Daniela, Stipa, Carlotta, Scaduto, Cristina, Parmeggiani, Antonia, Tonon, Caterina, Lodi, Raffaele, Torroni, Antonio, Carelli, Valerio
Published 2014

Changes in Choroidal Thickness follow the RNFL Changes in Leber’s Hereditary Optic Neuropathy

by Borrelli, Enrico, Triolo, Giacinto, Cascavilla, Maria Lucia, La Morgia, Chiara, Rizzo, Giovanni, Savini, Giacomo, Balducci, Nicole, Nucci, Paolo, Giglio, Rosa, Darvizeh, Fatemeh, Parisi, Vincenzo, Bandello, Francesco, Sadun, Alfredo A., Carelli, Valerio, Barboni, Piero
Published 2016

Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements

by Carbonelli, Michele, La Morgia, Chiara, Savini, Giacomo, Cascavilla, Maria Lucia, Borrelli, Enrico, Chicani, Filipe, do V. F. Ramos, Carolina, Salomao, Solange R., Parisi, Vincenzo, Sebag, Jerry, Bandello, Francesco, Sadun, Alfredo A., Carelli, Valerio, Barboni, Piero
Published 2015

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

by 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
Published 2012

Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

by Caporali, Leonardo, Ghelli, Anna Maria, Iommarini, Luisa, Maresca, Alessandra, Valentino, Maria Lucia, La Morgia, Chiara, Liguori, Rocco, Zanna, Claudia, Barboni, Piero, De Nardo, Vera, Martinuzzi, Andrea, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Calvaruso, Maria Antonietta, Cappelletti, Martina, Porcelli, Anna Maria, Achilli, Alessandro, Pala, Maria, Torroni, Antonio, Carelli, Valerio
Published 2013

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

by Carelli, Valerio, Musumeci, Olimpia, Caporali, Leonardo, Zanna, Claudia, La Morgia, Chiara, Del Dotto, Valentina, Porcelli, Anna Maria, Rugolo, Michela, Valentino, Maria Lucia, Iommarini, Luisa, Maresca, Alessandra, Barboni, Piero, Carbonelli, Michele, Trombetta, Costantino, Valente, Enza Maria, Patergnani, Simone, Giorgi, Carlotta, Pinton, Paolo, Rizzo, Giovanni, Tonon, Caterina, Lodi, Raffaele, Avoni, Patrizia, Liguori, Rocco, Baruzzi, Agostino, Toscano, Antonio, Zeviani, Massimo
Published 2015

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

by Wilson, Ian J., Carling, Phillipa J., Alston, Charlotte L., Floros, Vasileios I., Pyle, Angela, Hudson, Gavin, Sallevelt, Suzanne C.E.H., Lamperti, Costanza, Carelli, Valerio, Bindoff, Laurence A., Samuels, David C., Wonnapinij, Passorn, Zeviani, Massimo, Taylor, Robert W., Smeets, Hubert J.M., Horvath, Rita, Chinnery, Patrick F
Published 2016