Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy
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
Published in PLoS genetics (14.02.2018)
Published in PLoS genetics (14.02.2018)
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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy
Pippucci, Tommaso, Parmeggiani, Antonia, Palombo, Flavia, Maresca, Alessandra, Angius, Andrea, Crisponi, Laura, Cucca, Francesco, Liguori, Rocco, Valentino, Maria Lucia, Seri, Marco, Carelli, Valerio
Published in PloS one (16.12.2013)
Published in PloS one (16.12.2013)
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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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Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion
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
Published in Nucleic acids research (26.08.2022)
Published in Nucleic acids research (26.08.2022)
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Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy
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 in PloS one (03.08.2012)
Published in PloS one (03.08.2012)
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A Src/Abl kinase inhibitor, SKI-606, blocks breast cancer invasion, growth, and metastasis in vitro and in vivo
JALLAL, Houda, VALENTINE, Maria-Luisa, GAOPING CHEN, BOSCHELLI, Frank, ALI, Suhad, RABBANI, Shafaat A
Published in Cancer research (Chicago, Ill.) (15.02.2007)
Published in Cancer research (Chicago, Ill.) (15.02.2007)
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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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Value of diffusion-weighted MRI and apparent diffusion coefficient measurements for predicting the response of locally advanced rectal cancer to neoadjuvant chemoradiotherapy
Iannicelli, Elsa, Di Pietropaolo, Marco, Pilozzi, Emanuela, Osti, Mattia Falchetto, Valentino, Maria, Masoni, Luigi, Ferri, Mario
Published in Abdominal imaging (01.10.2016)
Published in Abdominal imaging (01.10.2016)
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SKI-606 (Bosutinib) blocks prostate cancer invasion, growth, and metastasis in vitro and in vivo through regulation of genes involved in cancer growth and skeletal metastasis
Rabbani, Shafaat A, Valentino, Maria-Luisa, Arakelian, Ani, Ali, Suhad, Boschelli, Frank
Published in Molecular cancer therapeutics (01.05.2010)
Published in Molecular cancer therapeutics (01.05.2010)
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Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
Hudson, Gavin, Carelli, Valerio, Spruijt, Liesbeth, Gerards, Mike, Mowbray, Catherine, Achilli, Alessandro, Pyle, Angela, Elson, Joanna, Howell, Neil, La Morgia, Chiara, Valentino, Maria Lucia, Huoponen, Kirsi, Savontaus, Marja-Liisa, Nikoskelainen, Eeva, Sadun, Alfredo A., Salomao, Solange R., Belfort, Rubens, Griffiths, Philip, Man, Patrick Yu Wai, de Coo, Rene F.M., Horvath, Rita, Zeviani, Massimo, Smeets, Hubert J.T., Torroni, Antonio, Chinnery, Patrick F.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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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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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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Secondary post-geniculate involvement in Leber's hereditary optic neuropathy
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 in PloS one (27.11.2012)
Published in PloS one (27.11.2012)
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Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
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
Published in Annals of clinical and translational neurology (01.03.2021)
Published in Annals of clinical and translational neurology (01.03.2021)
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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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GC-MS, GC-O and enantio-GC investigation of the essential oil of Tarchonanthus camphoratus L
Costa, Rosaria, d'Acampora Zellner, Barbara, Crupi, Maria L, Fina, Maria R. De, Valentino, Maria R, Dugo, Paola, Dugo, Giovanni, Mondello, Luigi
Published in Flavour and fragrance journal (2008)
Published in Flavour and fragrance journal (2008)
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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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Use of transcriptomics for diagnosis of infections and sepsis in children: A narrative review
Casini, Francesca, Valentino, Maria Sole, Lorenzo, Marc Garcia, Caiazzo, Roberta, Coppola, Crescenzo, David, Daniela, Di Tonno, Raffaella, Giacomet, Vania
Published in Acta Paediatrica (01.04.2024)
Published in Acta Paediatrica (01.04.2024)
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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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