Výsledky vyhledávání - Leonardo Caporali

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  1. 1
    The optic nerve: A “mito-window” on mitochondrial neurodegeneration

    The optic nerve: A “mito-window” on mitochondrial neurodegeneration Autor Alessandra Maresca, Chiara La Morgia, Leonardo Caporali, Maria Lucia Valentino, Valério Carelli

    Vydáno 2012
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  2. 2
    Mitochondrial diseases in adults

    Mitochondrial diseases in adults Autor Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Maria Lucia Valentino, Valério Carelli

    Vydáno 2020
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  3. 3
    Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma

    Somatic mutation profiling of hobnail variant of papillary thyroid carcinoma Autor Luca Morandi, Alberto Righi, Francesca Maletta, Paola Rucci, Fabio Pagni, Marco Gallo, Sabrina Rossi, Leonardo Caporali, Anna Sapino, Ricardo V. Lloyd, Sofia Asioli

    Vydáno 2017
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  4. 4
    OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation

    OPA1-related auditory neuropathy: site of lesion and outcome of cochlear implantation Autor Rosamaria Santarelli, Roberta Rossi, Pietro Scimemi, Elona Cama, Maria Lucia Valentino, Chiara La Morgia, Leonardo Caporali, Rocco Liguori, Vincenzo Magnavita, Anna Monteleone, Ariella Biscaro, Edoardo Arslan, Valério Carelli

    Vydáno 2015
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  5. 5
    Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria

    Infant and Adult Gut Microbiome and Metabolome in Rural Bassa and Urban Settlers from Nigeria Autor Funmilola A. Ayeni, Elena Biagi, Simone Rampelli, Jessica Fiori, Matteo Soverini, Haruna J. Audu, Sandra Cristino, Leonardo Caporali, Stephanie L. Schnorr, Valério Carelli, Patrizia Brigidi, Marco Candela, Silvia Turroni

    Vydáno 2018
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  6. 6
    Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

    Idebenone treatment in patients with OPA1-mutant dominant optic atrophy Autor Piero Barboni, Maria Lucia Valentino, Chiara La Morgia, Michele Carbonelli, Giacomo Savini, A. De Negri, Francesca Simonelli, Federico Sadun, Leonardo Caporali, Alessandra Maresca, Rocco Liguori, Agostino Baruzzi, Massimo Zeviani, Valério Carelli

    Vydáno 2013
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  7. 7
    ‘Behr syndrome’ with OPA1 compound heterozygote mutations

    ‘Behr syndrome’ with OPA1 compound heterozygote mutations Autor 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

    Vydáno 2014
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  8. 8
    OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

    OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions Autor Valentina Del Dotto, Prashant Mishra, Sara Vidoni, Mario Fogazza, Alessandra Maresca, Leonardo Caporali, J. Michael McCaffery, Martina Cappelletti, Enrico Baruffini, Guy Lenaers, David C. Chan, Michela Rugolo, Valério Carelli, Claudia Zanna

    Vydáno 2017
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  9. 9
    Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models

    Pharmacological Inhibition of Necroptosis Protects from Dopaminergic Neuronal Cell Death in Parkinson’s Disease Models Autor Angelo Iannielli, Simone Bido, Lucrezia Folladori, Alice Segnali, Cinzia Cancellieri, Alessandra Maresca, Luca Massimino, Alicia Rubio, Giuseppe Morabito, Leonardo Caporali, Francesca Tagliavini, Olimpia Musumeci, Giuliana Gregato, Erwan Bézard, Valério Carelli, Valeria Tiranti, Vania Broccoli

    Vydáno 2018
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  10. 10
    Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models

    Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models Autor Valentina Del Dotto, Mario Fogazza, Francesco Musiani, Alessandra Maresca, Serena J. Aleo, Leonardo Caporali, Chiara La Morgia, Cecilia Nolli, Tiziana Lodi, P Goffrini, David C. Chan, Valério Carelli, Michela Rugolo, Enrico Baruffini, Claudia Zanna

    Vydáno 2018
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  11. 11
    Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion

    Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion Autor Valério Carelli, Pio D’Adamo, Maria Lucia Valentino, Chiara La Morgia, Fred N. Ross‐Cisneros, Leonardo Caporali, Alessandra Maresca, Paola Loguercio Polosa, Piero Barboni, A. De Negri, Federico Sadun, Rustum Karanjia, Solange Rios Salomão, Adriana Berezovsky, Filipe Chicani, Milton Moraes, Milton Moraes Filho, Rubens Belfort, Alfredo A. Sadun

    Vydáno 2015
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  12. 12
    Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy

    Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy Autor Roberto De Giorgio, Loris Pironi, Rita Rinaldi, Elisa Boschetti, Leonardo Caporali, Mariantonietta Capristo, Carlo Casali, Giovanna Cenacchi, Manuela Contin, Roberto D’Angelo, Antonietta D’Errico, Laura Ludovica Gramegna, Raffaele Lodi, Alessandra Maresca, Susan Mohamed, Maria Cristina Morelli, Valentina Papa, Caterina Tonon, Vitaliano Tugnoli, Valério Carelli, Roberto D’Alessandro, Antonio Daniele Pinna

    Vydáno 2016
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  13. 13
    Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

    Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome Autor Chiara La Morgia, Alessandra Maresca, Giulia Amore, Laura Ludovica Gramegna, Michele Carbonelli, Emanuela Scimonelli, Alberto Danese, Simone Patergnani, Leonardo Caporali, Fabrizio Tagliavini, Valentina Del Dotto, Mariantonietta Capristo, Federico Sadun, Piero Barboni, Giacomo Savini, Stefania Evangelisti, Claudio Bianchini, Maria Lucia Valentino, Rocco Liguori, Caterina Tonon, Carlotta Giorgi, Paolo Pinton, Raffaele Lodi, Valério Carelli

    Vydáno 2020
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  14. 14
    Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

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

    Vydáno 2018
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  15. 15
    Syndromic parkinsonism and dementia associated with <scp><i>OPA</i></scp><i>1</i> missense mutations

    Syndromic parkinsonism and dementia associated with <scp><i>OPA</i></scp><i>1</i> missense mutations Autor Valério Carelli, Olimpia Musumeci, Leonardo Caporali, Claudia Zanna, Chiara La Morgia, Valentina Del Dotto, Anna Maria Porcelli, Michela Rugolo, Maria Lucia Valentino, Luisa Iommarini, Alessandra Maresca, Piero Barboni, Michele Carbonelli, C. J. Trombetta, Enza Maria Valente, Simone Patergnani, Carlotta Giorgi, Paolo Pinton, Giovanni Rizzo, Caterina Tonon, Raffaele Lodi, Patrizia Avoni, Rocco Liguori, Agostino Baruzzi, António Toscano, Massimo Zeviani

    Vydáno 2015
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  16. 16
    ATPase Domain <scp><i>AFG3L2</i></scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy

    ATPase Domain <scp><i>AFG3L2</i></scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy Autor Leonardo Caporali, Stefania Magri, Andrea Legati, Valentina Del Dotto, Fabrizio Tagliavini, Francesca Balistreri, Alessia Nasca, Chiara La Morgia, Michele Carbonelli, Maria Lucia Valentino, Eleonora Lamantea, Silvia Baratta, Lüdger Schöls, Rebecca Schüle, Piero Barboni, Maria Lucia Cascavilla, Alessandra Maresca, Mariantonietta Capristo, Anna Ardissone, Davide Pareyson, Gabriella Cammarata, Lisa Melzi, Massimo Zeviani, Lorenzo Peverelli, Costanza Lamperti, Stefania Bianchi Marzoli, Mingyan Fang, Matthis Synofzik, Daniele Ghezzi, Valério Carelli, Franco Taroni

    Vydáno 2020
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  17. 17
    Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy

    Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy Autor Alberto Danese, Simone Patergnani, Alessandra Maresca, Camille Peron, Andrea Raimondi, Leonardo Caporali, Saverio Marchi, Chiara La Morgia, Valentina Del Dotto, Claudia Zanna, Angelo Iannielli, Alice Segnali, Ivano Di Meo, Andrea Cavaliere, Magdalena Lebiedzińska, Mariusz R. Więckowski, Andrea Martinuzzi, Milton N. Moraes-Filho, Solange Rios Salomão, Adriana Berezovsky, Rubens Belfort, Christopher Buser, Fred N. Ross‐Cisneros, Alfredo A. Sadun, Carlo Tacchetti, Vania Broccoli, Carlotta Giorgi, Valeria Tiranti, Valério Carelli, Paolo Pinton

    Vydáno 2022
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  18. 18
    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy

    Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy Autor Carla Giordano, Luisa Iommarini, Luca Giordano, Alessandra Maresca, Annalinda Pisano, Maria Lucia Valentino, Leonardo Caporali, Rocco Liguori, Stefania Deceglie, Marina Roberti, Francesca Fanelli, Flavio Fracasso, Fred N. Ross‐Cisneros, Pio D’Adamo, Gavin Hudson, Angela Pyle, Patrick Yu‐Wai‐Man, Patrick F. Chinnery, Massimo Zeviani, Solange Rios Salomão, Adriana Berezovsky, Rubens Belfort, Dora Fix Ventura, Milton Moraes, Milton Moraes Filho, Piero Barboni, Federico Sadun, A. De Negri, Alfredo A. Sadun, Andrea Tancredi, Massimiliano Mancini, Giulia d’Amati, Paola Loguercio Polosa, Palmiro Cantatore, Valério Carelli

    Vydáno 2013
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  19. 19
    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy Autor Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

    Vydáno 2024
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  20. 20
    Multi-system neurological disease is common in patients with OPA1 mutations

    Multi-system neurological disease is common in patients with OPA1 mutations Autor Patrick Yu‐Wai‐Man, Philip G. Griffiths, Gráinne S. Gorman, Charles Marques Lourenço, Alan F. Wright, Michaela Auer‐Grumbach, António Toscano, O. Musumeci, Maria Lucia Valentino, Leonardo Caporali, Costanza Lamperti, Chantal Tallaksen, Philip Duffey, James Miller, Roger G. Whittaker, Mark R. Baker, Margaret Jackson, Michael W. Clarke, Baljean Dhillon, Birgit Czermin, Joanna D. Stewart, Gavin Hudson, Pascal Reynier, Dominique Bonneau, Wilson Marques, Guy Lenaers, Robert McFarland, Robert W. Taylor, Douglass M. Turnbull, Marcela Votruba, Massimo Zeviani, Valério Carelli, Laurence A. Bindoff, Rita Horváth, Patrizia Amati‐Bonneau, Patrick F. Chinnery

    Vydáno 2010
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