Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA von Sgarbi, Gianluca, Baracca, Alessandra, Lenaz, Giorgio, Valentino, Lucia M, Carelli, Valerio, Solaini, Giancarlo

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

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Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy von Caporali, Leonardo, Iommarini, Luisa, La Morgia, Chiara, Olivieri, Anna, Achilli, Alessandro, Maresca, Alessandra, Valentino, Maria Lucia, Capristo, Mariantonietta, Tagliavini, Francesca, Del Dotto, Valentina, Zanna, Claudia, Liguori, Rocco, Barboni, Piero, Carbonelli, Michele, Cocetta, Veronica, Montopoli, Monica, Martinuzzi, Andrea, Cenacchi, Giovanna, De Michele, Giuseppe, Testa, Francesco, Nesti, Anna, Simonelli, Francesca, Porcelli, Anna Maria, Torroni, Antonio, Carelli, Valerio

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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy von Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio

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Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation von Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Caldarazzo Ienco, Elena, Filosto, Massimiliano, Lamperti, Costanza, Martinelli, Diego, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Spinazzi, Marco, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

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Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy von Licchetta, Laura, Ferri, Lorenzo, La Morgia, Chiara, Zenesini, Corrado, Caporali, Leonardo, Lucia Valentino, Maria, Minardi, Raffaella, Fulitano, Daniela, Di Vito, Lidia, Mostacci, Barbara, Alvisi, Lara, Avoni, Patrizia, Liguori, Rocco, Tinuper, Paolo, Bisulli, Francesca, Carelli, Valerio

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The relevance of migraine in the clinical spectrum of mitochondrial disorders von Terrin, Alberto, Bello, Luca, Valentino, Maria Lucia, Caporali, Leonardo, Sorarù, Gianni, Carelli, Valerio, Maggioni, Ferdinando, Zeviani, Massimo, Pegoraro, Elena

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Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys von Capristo, Mariantonietta, Del Dotto, Valentina, Tropeano, Concetta Valentina, Fiorini, Claudio, Caporali, Leonardo, La Morgia, Chiara, Valentino, Maria Lucia, Montopoli, Monica, Carelli, Valerio, Maresca, Alessandra

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A coordinated multiorgan metabolic response contributes to human mitochondrial myopathy von Southwell, Nneka, Primiano, Guido, Nadkarni, Viraj, Attarwala, Nabeel, Beattie, Emelie, Miller, Dawson, Alam, Sumaitaah, Liparulo, Irene, Shurubor, Yevgeniya I, Valentino, Maria Lucia, Carelli, Valerio, Servidei, Serenella, Gross, Steven S, Manfredi, Giovanni, Chen, Qiuying, D'Aurelio, Marilena

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Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy von 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

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The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender? von Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Alice, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Uziel, Graziella, Bruno, Claudio, Ienco, Elena Caldarazzo, Filosto, Massimiliano, Lamperti, Costanza, Catteruccia, Michela, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Santorelli, Filippo Maria, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele

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The genetic puzzle of a SOD1-patient with ocular ptosis and a motor neuron disease: a case report von Vacchiano, Veria, Palombo, Flavia, Ormanbekova, Danara, Fiorini, Claudio, Fiorentino, Alessia, Caporali, Leonardo, Mastrangelo, Andrea, Valentino, Maria Lucia, Capellari, Sabina, Liguori, Rocco, Carelli, Valerio

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Anti-cN1A Antibodies Are Associated with More Severe Dysphagia in Sporadic Inclusion Body Myositis von Lucchini, Matteo, Maggi, Lorenzo, Pegoraro, Elena, Filosto, Massimiliano, Rodolico, Carmelo, Antonini, Giovanni, Garibaldi, Matteo, Valentino, Maria Lucia, Siciliano, Gabriele, Tasca, Giorgio, De Arcangelis, Valeria, De Fino, Chiara, Mirabella, Massimiliano

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Hearing Dysfunction in a Large Family Affected by Dominant Optic Atrophy (OPA8-Related DOA): A Human Model of Hidden Auditory Neuropathy von Santarelli, Rosamaria, La Morgia, Chiara, Valentino, Maria Lucia, Barboni, Piero, Monteleone, Anna, Scimemi, Pietro, Carelli, Valerio

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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations von Cao, Michelangelo, Donà, Marta, Valentino, Lucia, Semplicini, Claudio, Maresca, Alessandra, Cassina, Matteo, Torraco, Alessandra, Galletta, Eva, Manfioli, Valeria, Sorarù, Gianni, Carelli, Valerio, Stramare, Roberto, Bertini, Enrico, Carozzo, Rosalba, Salviati, Leonardo, Pegoraro, Elena

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Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion von Misic, Jelena, Milenkovic, Dusanka, Al-Behadili, Ali, Xie, Xie, Jiang, Min, Jiang, Shan, Filograna, Roberta, Koolmeister, Camilla, Siira, Stefan J, Jenninger, Louise, Filipovska, Aleksandra, Clausen, Anders R, Caporali, Leonardo, Valentino, Maria Lucia, La Morgia, Chiara, Carelli, Valerio, Nicholls, Thomas J, Wredenberg, Anna, Falkenberg, Maria, Larsson, Nils-Göran

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Haplogroup Effects and Recombination of Mitochondrial DNA: Novel Clues from the Analysis of Leber Hereditary Optic Neuropathy Pedigrees von Carelli, Valerio, Achilli, Alessandro, Valentino, Maria Lucia, Rengo, Chiara, Semino, Ornella, Pala, Maria, Olivieri, Anna, Mattiazzi, Marina, Pallotti, Francesco, Carrara, Franco, Zeviani, Massimo, Leuzzi, Vincenzo, Carducci, Carla, Valle, Giorgio, Simionati, Barbara, Mendieta, Luana, Salomao, Solange, Belfort, Rubens, Sadun, Alfredo A., Torroni, Antonio

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Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathy von Pippucci, Tommaso, Maresca, Alessandra, Magini, Pamela, Cenacchi, Giovanna, Donadio, Vincenzo, Palombo, Flavia, Papa, Valentina, Incensi, Alex, Gasparre, Giuseppe, Valentino, Maria Lucia, Preziuso, Carmela, Pisano, Annalinda, Ragno, Michele, Liguori, Rocco, Giordano, Carla, Tonon, Caterina, Lodi, Raffaele, Parmeggiani, Antonia, Carelli, Valerio, Seri, Marco

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

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Performance education von Natale Marzullo, Lucia Valentino

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