نتائج البحث - Enrico Baruffini

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  1. 1
    Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans

    Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in huma... حسب Enrico Baruffini, Tiziana Lodi, Cristina Dallabona, Andrea Puglisi, Massimo Zeviani, Iliana Ferrero

    منشور في 2006
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    Artigo
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  2. 2
    Biallelic Mutations in <i>DNM1L</i> are Associated with a Slowly Progressive Infantile Encephalopathy

    Biallelic Mutations in <i>DNM1L</i> are Associated with a Slowly Progressive Infantile Encephalopathy حسب Alessia Nasca, Andrea Legati, Enrico Baruffini, Cecilia Nolli, Isabella Moroni, Anna Ardissone, P Goffrini, Daniele Ghezzi

    منشور في 2016
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  3. 3
    Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity

    Polymerase γ Gene POLG Determines the Risk of Sodium Valproate-Induced Liver Toxicity حسب Joanna D. Stewart, Rita Horváth, Enrico Baruffini, Iliana Ferrero, Stefanie Bulst, Paul B. Watkins, Robert J. Fontana, Christopher P. Day, Patrick F. Chinnery

    منشور في 2010
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  4. 4
    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

    Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis حسب Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack, Federica Invernizzi, Laura Melchionda, Cristina Dallabona, Tim M. Strom, Rossella Parini, Alberto Burlina, Thomas Meitinger, Holger Prokisch, Ileana Ferrero, Massimo Zeviani

    منشور في 2012
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  5. 5
    OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions

    OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions حسب 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

    منشور في 2017
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  6. 6
    De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

    De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review حسب Martina Magistrati, Luisa Zupin, Eleonora Lamantea, Enrico Baruffini, Daniele Ghezzi, Andrea Legati, Fulvio Celsi, Flora Maria Murru, Valeria Capaci, Maurizio Pinamonti, Rossana Bussani, Marco Carrozzi, Cristina Dallabona, Massimo Zeviani, Maria Teresa Bonati

    منشور في 2025
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    Revisão
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  7. 7
    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 حسب 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

    منشور في 2018
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  8. 8
    A steric gate prevents mutagenic <scp>dATP</scp> incorporation opposite 8‐oxo‐deoxyguanosine in mitochondrial <scp>DNA</scp> polymerases

    A steric gate prevents mutagenic <scp>dATP</scp> incorporation opposite 8‐oxo‐deoxyguanosine in mitochondrial <scp>DNA</scp> polymerases حسب Noe Baruch‐Torres, Carlos H. Trasviña‐Arenas, Alexandru Ionut Gilea, Upeksha C. Dissanayake, Marı́a Francisca Molina-Jiménez, Paola L. García‐Medel, Corina Díaz‐Quezada, Tiziana Lodi, G. Andrés Cisneros, Enrico Baruffini, Luis G. Brieba

    منشور في 2025
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  9. 9
    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island

    Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island حسب Alice Hadchouel, Thomas Wieland, Matthias Griese, Enrico Baruffini, Bettina Lorenz‐Depiereux, Laurent Enaud, Elisabeth Graf, J.‐C. Dubus, S. Halioui-Louhaichi, Aurore Coulomb, Christophe Delacourt, Gertrud Eckstein, Ralf Zarbock, Thomas Schwarzmayr, François Cartault, Thomas Meitinger, Tiziana Lodi, J. de Blic, Tim M. Strom

    منشور في 2015
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  10. 10
    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies

    <i>VARS2</i>and<i>TARS2</i>Mutations in Patients with Mitochondrial Encephalomyopathies حسب Daria Diodato, Laura Melchionda, Tobias B. Haack, Cristina Dallabona, Enrico Baruffini, Claudia Donnini, Tiziana Granata, Francesca Ragona, Paolo Balestri, Maria Margollicci, Eleonora Lamantea, Alessia Nasca, Christopher A. Powell, Michal Minczuk, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Costanza Lamperti, Massimo Zeviani, Daniele Ghezzi

    منشور في 2014
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  11. 11
    Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

    Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA حسب John W. Yarham, Tek N. Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L. Blakely, Helen Griffin, Mauro Santibanez‐Koref, Laurence A. Bindoff, Ileana Ferrero, Patrick F. Chinnery, Robert McFarland, Richard J Maraia, Robert W. Taylor

    منشور في 2014
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  12. 12
    ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

    ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy حسب Tobias B. Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J. Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz Zimmermann, Ralf A. Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M. Strom, Thomas Meitinger, Robert W. Taylor, Michal Minczuk, Johannes A. Mayr, Holger Prokisch

    منشور في 2013
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  13. 13
    Defective <scp>PITRM</scp> 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

    Defective <scp>PITRM</scp> 1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration حسب Dario Brunetti, Janniche Torsvik, Cristina Dallabona, Pedro Filipe Teixeira, Paweł Sztromwasser, Erika Fernández‐Vizarra, Raffaele Cerutti, Aurelio Reyes, Carmela Preziuso, Giulia d’Amati, Enrico Baruffini, P Goffrini, Carlo Viscomi, Ileana Ferrero, Helge Boman, Wenche Telstad, Stefan Johansson, Elżbieta Glaser, Per M. Knappskog, Massimo Zeviani, Laurence A. Bindoff

    منشور في 2015
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  14. 14
    Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features

    Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features حسب Cristiane Benincá, Vanessa Zanette, Michele Brischigliaro, Mark Johnson, Aurelio Reyes, Daniel Almeida do Valle, Alan J. Robinson, Andrea Degiorgi, Anna Yeates, Bruno Augusto Telles, Julien Prudent, Enrico Baruffini, Mara Lúcia Schmitz Ferreira Santos, Ricardo Lehtonen Rodrigues de Souza, Erika Fernández‐Vizarra, Alexander J. Whitworth, Massimo Zeviani

    منشور في 2020
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  15. 15
    <i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast

    <i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast حسب Enrico Baruffini, Cristina Dallabona, Federica Invernizzi, John W. Yarham, Laura Melchionda, Emma L. Blakely, Eleonora Lamantea, Claudia Donnini, Saikat Santra, Suresh Vijayaraghavan, Helen P. Roper, Alberto Burlina, Robert Kopajtich, Anett Walther, Tim M. Strom, Tobias B. Haack, Holger Prokisch, Robert W. Taylor, Ileana Ferrero, Massimo Zeviani, Daniele Ghezzi

    منشور في 2013
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  16. 16
    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy

    Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy حسب 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

    منشور في 2019
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  17. 17
    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

    Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations حسب Cristina Dallabona, Daria Diodato, Sietske H. Kevelam, Tobias B. Haack, Lee-Jun Wong, Gajja S. Salomons, Enrico Baruffini, Laura Melchionda, Caterina Mariotti, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Colin A. Chapman, Alison Colley, Helena Rocha, Katrin Õunap, Raphael Schiffmann, Ettore Salsano, M. Savoiardo, Eline M. Hamilton, Truus E. M. Abbink, Nicole I. Wolf, Ileana Ferrero, Costanza Lamperti, Massimo Zeviani, Adeline Vanderver, Daniele Ghezzi, Marjo S. van der Knaap

    منشور في 2014
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