A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck
Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L, Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Published in PloS one (07.05.2014)
Published in PloS one (07.05.2014)
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OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size
Barboni, Piero, MD, Carbonelli, Michele, MD, Savini, Giacomo, MD, Foscarini, Beatrice, MD, Parisi, Vincenzo, MD, Valentino, Maria L., MD, Carta, Arturo, MD, Negri, Annamaria De, MD, Sadun, Federico, MD, Zeviani, Massimo, MD, PhD, Sadun, Alfredo A., MD, PhD, Schimpf, Simone, PhD, Wissinger, Bernd, PhD, Carelli, Valerio, MD, PhD
Published in Ophthalmology (Rochester, Minn.) (01.08.2010)
Published in Ophthalmology (Rochester, Minn.) (01.08.2010)
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Mitochondrial DNA Depletion and Thymidine Phosphate Pool Dynamics in a Cellular Model of Mitochondrial Neurogastrointestinal Encephalomyopathy
Pontarin, Giovanna, Ferraro, Paola, Valentino, Maria L., Hirano, Michio, Reichard, Peter, Bianchi, Vera
Published in The Journal of biological chemistry (11.08.2006)
Published in The Journal of biological chemistry (11.08.2006)
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Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations
Gramegna, Laura L., Evangelisti, Stefania, Di Vito, Lidia, La Morgia, Chiara, Maresca, Alessandra, Caporali, Leonardo, Amore, Giulia, Talozzi, Lia, Bianchini, Claudio, Testa, Claudia, Manners, David N., Cortesi, Irene, Valentino, Maria L., Liguori, Rocco, Carelli, Valerio, Tonon, Caterina, Lodi, Raffaele
Published in Annals of clinical and translational neurology (01.06.2021)
Published in Annals of clinical and translational neurology (01.06.2021)
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Grand Rounds: Could Occupational Exposure to n-Hexane and Other Solvents Precipitate Visual Failure in Leber Hereditary Optic Neuropathy?
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 in Environmental health perspectives (01.01.2007)
Published in Environmental health perspectives (01.01.2007)
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Co-occurrence of amyotrophic lateral sclerosis and Leber’s hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Amore, Giulia, Vacchiano, Veria, La Morgia, Chiara, Valentino, Maria L., Caporali, Leonardo, Fiorini, Claudio, Ormanbekova, Danara, Salvi, Fabrizio, Bartoletti-Stella, Anna, Capellari, Sabina, Liguori, Rocco, Carelli, Valerio
Published in Journal of neurology (01.01.2023)
Published in Journal of neurology (01.01.2023)
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ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy
Caporali, Leonardo, Magri, Stefania, Legati, Andrea, Del Dotto, Valentina, Tagliavini, Francesca, Balistreri, Francesca, Nasca, Alessia, La Morgia, Chiara, Carbonelli, Michele, Valentino, Maria L., Lamantea, Eleonora, Baratta, Silvia, Schöls, Ludger, Schüle, Rebecca, Barboni, Piero, Cascavilla, Maria L., Maresca, Alessandra, Capristo, Mariantonietta, Ardissone, Anna, Pareyson, Davide, Cammarata, Gabriella, Melzi, Lisa, Zeviani, Massimo, Peverelli, Lorenzo, Lamperti, Costanza, Marzoli, Stefania B., Fang, Mingyan, Synofzik, Matthis, Ghezzi, Daniele, Carelli, Valerio, Taroni, Franco
Published in Annals of neurology (01.07.2020)
Published in Annals of neurology (01.07.2020)
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Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993
Baracca, Alessandra, Sgarbi, Gianluca, Mattiazzi, Marina, Casalena, Gabriella, Pagnotta, Eleonora, Valentino, Maria L., Moggio, Maurizio, Lenaz, Giorgio, Carelli, Valerio, Solaini, Giancarlo
Published in Biochimica et biophysica acta (01.07.2007)
Published in Biochimica et biophysica acta (01.07.2007)
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Myoclonus in mitochondrial disorders
Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Catteruccia, Michela, Pegoraro, Elena, Carelli, Valerio, Valentino, Maria L., Comi, Giacomo P., Minetti, Carlo, Bruno, Claudio, Moggio, Maurizio, Ienco, Elena Caldarazzo, Mongini, Tiziana, Vercelli, Liliana, Primiano, Guido, Servidei, Serenella, Tonin, Paola, Scarpelli, Mauro, Toscano, Antonio, Musumeci, Olimpia, Moroni, Isabella, Uziel, Graziella, Santorelli, Filippo M., Nesti, Claudia, Filosto, Massimiliano, Lamperti, Costanza, Zeviani, Massimo, Siciliano, Gabriele
Published in Movement disorders (01.05.2014)
Published in Movement disorders (01.05.2014)
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Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy
Shankar, Suma P., Fingert, John H., Carelli, Valerio, Valentino, Maria L., King, Terri M., Daiger, Stephen P., Salomao, Solange R., Berezovsky, Adriana, Belfort, Rubens, Braun, Terri A., Sheffield, Val C., Sadun, Alfredo A., Stone, Edwin M.
Published in Ophthalmic genetics (01.03.2008)
Published in Ophthalmic genetics (01.03.2008)
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Thymidine phosphorylase mutations cause instability of mitochondrial DNA
Hirano, Michio, Lagier-Tourenne, Clotilde, Valentino, Maria L., Martí, Ramon, Nishigaki, Yutaka
Published in Gene (18.07.2005)
Published in Gene (18.07.2005)
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Assessing Heteroplasmic Load in Leber's Hereditary Optic Neuropathy Mutation 3460G→A/MT-ND1 with A Real-Time PCR Quantitative Approach
Genasetti, Anna, Valentino, Maria L, Carelli, Valerio, Vigetti, Davide, Viola, Manuela, Karousou, Evgenia G, Melzi d'Eril, Gian Vico, De Luca, Giancarlo, Passi, Alberto, Pallotti, Francesco
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
Published in The Journal of molecular diagnostics : JMD (01.09.2007)
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X‐inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients
Pegoraro, Elena, Vettori, Andrea, Valentino, Maria L., Molon, Annamaria, Mostacciuolo, Maria L., Howell, Neil, Carelli, Valerio
Published in American journal of medical genetics. Part A (15.05.2003)
Published in American journal of medical genetics. Part A (15.05.2003)
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A Wide Range of 3243AG/tRNALeu Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck
Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L, Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Published in PloS one (07.05.2014)
Published in PloS one (07.05.2014)
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A Wide Range of 3243AG/tRNALeu
Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L, Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Published in PloS one (07.05.2014)
Published in PloS one (07.05.2014)
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Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion
Mancuso, Michelangelo, Orsucci, Daniele, Angelini, Corrado, Bertini, Enrico, Carelli, Valerio, Comi, Giacomo Pietro, Donati, Maria Alice, Federico, Antonio, Minetti, Carlo, Moggio, Maurizio, Mongini, Tiziana, Santorelli, Filippo Maria, Servidei, Serenella, Tonin, Paola, Toscano, Antonio, Bruno, Claudio, Bello, Luca, Ienco, Elena Caldarazzo, Cardaioli, Elena, Catteruccia, Michela, Da Pozzo, Paola, Filosto, Massimiliano, Lamperti, Costanza, Moroni, Isabella, Musumeci, Olimpia, Pegoraro, Elena, Ronchi, Dario, Sauchelli, Donato, Scarpelli, Mauro, Sciacco, Monica, Valentino, Maria Lucia, Vercelli, Liliana, Zeviani, Massimo, Siciliano, Gabriele
Published in Journal of neurology (01.12.2015)
Published in Journal of neurology (01.12.2015)
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High frequency of migraine-only patients negative for the 3243 A>G tRNA Leu mtDNA mutation in two MELAS families
Cevoli, Sabina, Pallotti, Francesco, Morgia, Chiara La, Valentino, Maria L, Pierangeli, Giulia, Cortelli, Pietro, Baruzzi, Agostino, Montagna, Pasquale, Carelli, Valerio
Published in Cephalalgia (01.08.2010)
Published in Cephalalgia (01.08.2010)
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Journal Article
High frequency of migraine-only patients negative for the 3243 A>G tRNALeu mtDNA mutation in two MELAS families
Cevoli, Sabina, Pallotti, Francesco, Morgia, Chiara La, Valentino, Maria L, Pierangeli, Giulia, Cortelli, Pietro, Baruzzi, Agostino, Montagna, Pasquale, Carelli, Valerio
Published in Cephalalgia (01.08.2010)
Published in Cephalalgia (01.08.2010)
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Journal Article
A Wide Range of 3243A>G/tRNALeu(UUR) (MELAS) Mutation Loads May Segregate in Offspring through the Female Germline Bottleneck: e96663
Pallotti, Francesco, Binelli, Giorgio, Fabbri, Raffaella, Valentino, Maria L, Vicenti, Rossella, Macciocca, Maria, Cevoli, Sabina, Baruzzi, Agostino, DiMauro, Salvatore, Carelli, Valerio
Published in PloS one (01.05.2014)
Published in PloS one (01.05.2014)
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Journal Article
X-inactivation pattern in multiple tissues from two leber's hereditary optic neuropathy (LHON) patients
Pegoraro, Elena, Vettori, Andrea, Valentino, Maria L., Molon, Annamaria, Mostacciuolo, Maria L., Howell, Neil, Carelli, Valerio
Published in American Journal of Medical Genetics Part A (15.05.2003)
Published in American Journal of Medical Genetics Part A (15.05.2003)
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