Výsledky vyhledávání - Ana Ferreiro

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  1. 1
    Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis

    Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis Autor Sandrine Arbogast, Ana Ferreiro

    Vydáno 2009
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  2. 2
    Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies

    Muscle redox disturbances and oxidative stress as pathomechanisms and therapeutic targets in early-onset myopathies Autor Maryline Moulin, Ana Ferreiro

    Vydáno 2016
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  3. 3
    A Rising Titan:<i>TTN</i>Review and Mutation Update

    A Rising Titan:<i>TTN</i>Review and Mutation Update Autor Claire Chauveau, John Rowell, Ana Ferreiro

    Vydáno 2014
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  4. 4
    Oxidative stress in <i>SEPN1</i>‐related myopathy: From pathophysiology to treatment

    Oxidative stress in <i>SEPN1</i>‐related myopathy: From pathophysiology to treatment Autor Sandrine Arbogast, Maud Beuvin, B. Fraysse, Haïyan Zhou, Francesco Muntoni, Ana Ferreiro

    Vydáno 2009
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  5. 5
    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

    A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia Autor Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre‐Vila, Paulette Mezin, Joël Lunardi

    Vydáno 2003
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  6. 6
    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

    Mutations in COL6A3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy Autor Ercan Demir, Patrizia Sabatelli, Valérie Allamand, Ana Ferreiro, Behzad Moghadaszadeh, Mohamed Makrelouf, Haluk Topaloğlu, Bernard Échenne, Luciano Merlini, Pascale Guicheney

    Vydáno 2002
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  7. 7
    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age

    Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age Autor M. Bisciglia, Gianmarco Severa, Norma B. Romero, Michel Fardeau, John Rendu, Tanya Stojkovic, Pascal Laforêt, B. Eymard, Ana Ferreiro, Edoardo Malfatti, Anthony Béhin

    Vydáno 2025
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  8. 8
    A mutation in the<i>SEPN1</i>selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to<i>SEPN1</i>-related myopathy

    A mutation in the<i>SEPN1</i>selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to<i>SEPN1</i>-related myopathy Autor Baijayanta Maiti, Sandrine Arbogast, Val��rie Allamand, Mark W. Moyle, Christine B. Anderson, Pascale Richard, Pascale Guicheney, Ana Ferreiro, Kevin M. Flanigan, Michael Howard

    Vydáno 2008
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  9. 9
    A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy

    A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1‐related myopathy Autor Valérie Allamand, Pascale Richard, Alain Lescure, C. Ledeuil, Delphine Desjardin, Nathalie Petit, Corine Gartioux, Ana Ferreiro, Alain Krol, N. Pellegrini, Jon Andoni Urtizberea, Pascale Guicheney

    Vydáno 2006
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  10. 10
    Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

    Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy Autor Mathieu Rederstorff, Perrine Castets, Sandrine Arbogast, Jeanne Lainé, Stéphane Vassilopoulos, Maud Beuvin, O. Dubourg, Alban Vignaud, Arnaud Ferry, Alain Krol, Valérie Allamand, Pascale Guicheney, Ana Ferreiro, Alain Lescure

    Vydáno 2011
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  11. 11
    Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

    Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy Autor James J. Dowling, Sandrine Arbogast, Junguk Hur, Darcee D. Nelson, Anna McEvoy, Trent A. Waugh, Isabelle Marty, Joël Lunardi, Susan V. Brooks, John Y. Kuwada, Ana Ferreiro

    Vydáno 2012
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  12. 12
    SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

    SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance Autor Ersilia Varone, Diego Pozzer, Simona Maria Di Modica, Alexander Chernorudskiy, Leonardo Nogara, Martina Baraldo, Mario Cinquanta, Stefano Fumagalli, Rocío N. Villar‐Quiles, Maria Grazia De Simoni, Bert Blaauw, Ana Ferreiro, Ester Zito

    Vydáno 2019
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  13. 13
    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization

    Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization Autor Jorge A. Bevilacqua, Nicole Monnier, Marc Bitoun, B. Eymard, Ana Ferreiro, Soledad Monges, F. Lubieniecki, Analía Taratuto, A. Laquérrière, Kristl G. Claeys, Isabelle Marty, Michel Fardeau, Pascale Guicheney, Joël Lunardi, Norma B. Romero

    Vydáno 2010
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  14. 14
    Diagnostic approach to the congenital muscular dystrophies

    Diagnostic approach to the congenital muscular dystrophies Autor Carsten G. Bönnemann, Ching H. Wang, Susana Quijano‐Roy, Nicolas Deconinck, Enrico Bertini, Ana Ferreiro, Francesco Muntoni, Caroline Sewry, Christophe Béroud, Katherine D. Mathews, Steven A. Moore, Jonathan Bellini, Anne Rutkowski, Kathryn N. North

    Vydáno 2014
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  15. 15
    Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

    Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Ea... Autor Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau, Behzad Moghadaszadeh, Nathalie Goemans, Carsten G. Bönnemann, Heinz Jungbluth, Volker Straub, Marcello Villanova, Jean‐Paul Leroy, Norma B. Romero, Jean‐Jacques Martin, Francesco Muntoni, Thomas Voit, B. Estournet, Pascale Richard, Michel Fardeau, Pascale Guicheney

    Vydáno 2002
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  16. 16
    217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016

    217th ENMC International Workshop: RYR1-related myopathies, Naarden, The Netherlands, 29–31 January 2016 Autor Heinz Jungbluth, James J. Dowling, Ana Ferreiro, Francesco Muntoni, Carsten G. Bönnemann, Robert T. Dirksen, Julien Fauré, Susan L. Hamilton, Philip M. Hopkins, Andrew R. Marks, Isabelle Marty, Katy Meilleur, Sheila Riazi, Caroline A. Sewry, Susan Treves, Nicol C. Voermans, Francesco Zorzato

    Vydáno 2016
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  17. 17
    Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice

    Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice Autor Harald Herrmann, Éva Cabet, Nicolas R. Chevalier, Julia Moosmann, Dorothea Schultheis, Jan Haas, Mirjam Schowalter, Carolin Berwanger, Veronika Weyerer, Abbas Agaimy, Benjamin Meder, Oliver J. Müller, Hugo A. Katus, Ursula Schlötzer‐Schrehardt, Patrick Vicart, Ana Ferreiro, Sven Dittrich, Christoph S. Clemen, Alain Lilienbaum, Rolf Schröder

    Vydáno 2020
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  18. 18
    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

    Recessive TTN truncating mutations define novel forms of core myopathy with heart disease Autor Claire Chauveau, Carsten G. Bönnemann, Cédric Julien, Ay Lin Kho, Harold G. Marks, Beril Talim, Philippe Maury, M. C. Arne-Bes, Emmanuelle Uro‐Coste, Alexander Alexandrovich, Anna Vihola, Sebastian Schäfer, Beat A. Kaufmann, Līvija Medne, Norbert Hübner, A. Reghan Foley, Mariarita Santi, Bjarne Udd, Haluk Topaloğlu, Steven A. Moore, Michael Gotthardt, Mark E. Samuels, Mathias Gautel, Ana Ferreiro

    Vydáno 2013
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  19. 19
    Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

    Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy Autor Anne Filipe, Alexander Chernorudskiy, Sandrine Arbogast, Ersilia Varone, Rocío-Nur Villar-Quiles, Diego Pozzer, Maryline Moulin, Stefano Fumagalli, Éva Cabet, Swati Dudhal, Maria Grazia De Simoni, R Denis, Nathalie Vadrot, C. Dill, Matteo Giovarelli, Luke I. Szweda, Clara De Palma, Paolo Pinton, Carlotta Giorgi, Carlo Viscomi, Emilio Clementi, Sonia Missiroli, Simona Boncompagni, Ester Zito, Ana Ferreiro

    Vydáno 2020
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  20. 20
    SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA

    SEPN1-related myopathy depends on the oxidoreductase ERO1A and is druggable with the chemical chaperone TUDCA Autor Serena Germani, Andrew Tri Van Ho, Alessandro Cherubini, Ersilia Varone, Alexander Chernorudskiy, G. Renna, Stefano Fumagalli, Marco Gobbi, Jacopo Lucchetti, Marco Bolis, Luca Guarrera, Ilaria Craparotta, Giorgia Rastelli, Giorgia Piccoli, Cosimo De Napoli, Leonardo Nogara, Elena Poggio, Marisa Brini, Angela Cattaneo, Angela Bachi, Thomas Simmen, Tito Calì, Susana Quijano‐Roy, Simona Boncompagni, Bert Blaauw, Ana Ferreiro, Ester Zito

    Vydáno 2024
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