Suchergebnisse - Teresa Rizza
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Toxicological assessment of CeO(2) nanoparticles on early development of zebrafish von Roberta, Pecoraro, Elena Maria, Scalisi, Carmelo, Iaria, Fabiano, Capparucci, Maria Teresa, Rizza, Sara, Ignoto, Antonio, Salvaggio, Roberto, Fiorenza, Giuliana, Impellizzeri, Maria Violetta, Brundo
Veröffentlicht 2021Text -
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‘Behr syndrome’ with OPA1 compound heterozygote mutations von Valério Carelli, Mario Sabatelli, Rosalba Carrozzo, Teresa Rizza, Simone Schimpf, Bernd Wissinger, Claudia Zanna, Michela Rugolo, Chiara La Morgia, Leonardo Caporali, Michele Carbonelli, Piero Barboni, Caterina Tonon, Raffaele Lodi, Enrico Bertini
Veröffentlicht 2014Carta -
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MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy von Diego Martinelli, Lorena Travaglini, Christian A. Drouin, Irène Ceballos-Picot, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo, Stefania Petrini, Pascale de Lonlay, Maya El Hachem, Laurence Hubert, Alexandre Montpetit, Giuliano Torre, Carlo Dionisi‐Vici
Veröffentlicht 2013Artigo -
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A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease von Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D’Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi‐Vici, Rosalba Carrozzo, Enrico Bertini
Veröffentlicht 2015Artigo -
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A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly von Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian D. Mutti, Alessandra Torraco, Romina Oliva, Erika Fernández‐Vizarra, Federica Morani, Giulia Trani, Teresa Rizza, Daniele Ghezzi, Anna Ardissone, Claudia Nesti, Gessica Vasco, Massimo Zeviani, Michal Minczuk, Enrico Bertini, Filippo M. Santorelli, Rosalba Carrozzo
Veröffentlicht 2020Artigo -
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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations von Alessia Nasca, Teresa Rizza, Mara Doimo, Andrea Legati, Andrea Ciolfi, Daria Diodato, Cristina Calderan, Gianfranco Carrara, Eleonora Lamantea, Chiara Aiello, Michela Di Nottia, Marcello Niceta, Costanza Lamperti, Anna Ardissone, Stefania Bianchi‐Marzoli, Giancarlo Iarossi, Enrico Bertini, Isabella Moroni, Marco Tartaglia, Leonardo Salviati, Rosalba Carrozzo, Daniele Ghezzi
Veröffentlicht 2017Artigo -
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TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy von Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D’Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi‐Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini
Veröffentlicht 2016Artigo -
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Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy von Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco, Domenica Battaglia, Giulia Trani, Gianmarco Versienti, Silvia Marchet, Alessandra Torraco, Teresa Rizza, Margherita Verardo, Adele D’Amico, Daria Diodato, Isabella Moroni, Costanza Lamperti, Stefania Petrini, Maurizio Moggio, P Goffrini, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini
Veröffentlicht 2019Artigo -
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Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration von Valentina Muto, Elisabetta Flex, Zachary A Kupchinsky, Guido Primiano, Hamid Galehdari, Mohammadreza Dehghani, Serena Cecchetti, Giovanna Carpentieri, Teresa Rizza, Neda Mazaheri, Alireza Sedaghat, Mohammad Yahya Vahidi Mehrjardi, Alice Traversa, Michela Di Nottia, Maria Kousi, Yalda Jamshidi, Andrea Ciolfi, Viviana Caputo, Reza Azizi Malamiri, Francesca Pantaleoni, Simone Martinelli, Aaron R. Jeffries, Jawaher Zeighami, Amir Sherafat, Daniela Di Giuda, Gholamreza Shariati, Rosalba Carrozzo, Nicholas Katsanis, Reza Maroofian, Serenella Servidei, Marco Tartaglia
Veröffentlicht 2018Artigo -
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<i>LYRM7</i>mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance von Cristina Dallabona, Truus E. M. Abbink, Rosalba Carrozzo, Alessandra Torraco, Andrea Legati, Carola G.M. van Berkel, Marcello Niceta, Tiziana Langella, Daniela Verrigni, Teresa Rizza, Daria Diodato, Fiorella Piemonte, Eleonora Lamantea, Mingyan Fang, Jianguo Zhang, Diego Martinelli, Elsa Bevivino, Carlo Dionisi‐Vici, Adeline Vanderver, Sunny Philip, Manju A. Kurian, Ishwar C. Verma, Sunita Bijarnia‐Mahay, Sandra Jacinto, Fátima Furtado, Patrizia Accorsi, Anna Ardissone, Isabella Moroni, Ileana Ferrero, Marco Tartaglia, P Goffrini, Daniele Ghezzi, Marjo S. van der Knaap, Enrico Bertini
Veröffentlicht 2016Artigo
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