Search Results - Annachiara De Sandre‐Giovannoli

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  1. 1
    An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome

    An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome by Karim Harhouri, Diane Frankel, Catherine Bartoli, Patrice Roll, Annachiara De Sandre‐Giovannoli, Nicolas Lévy

    Published 2018
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  2. 2
    <scp>MG</scp>132‐induced progerin clearance is mediated by autophagy activation and splicing regulation

    <scp>MG</scp>132‐induced progerin clearance is mediated by autophagy activation and splicing regulation by Karim Harhouri, Claire Navarro, D. Depétris, Marie‐Geneviève Mattéi, Xavier Nissan, Pierre Cau, Annachiara De Sandre‐Giovannoli, Nicolas Lévy

    Published 2017
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  3. 3
    Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

    Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective by Pierre Cau, Claire Navarro, Karim Harhouri, Patrice Roll, Sabine Sigaudy, Élise Kaspi, Sophie Perrin, Annachiara De Sandre‐Giovannoli, Nicolas Lévy

    Published 2014
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  4. 4
    Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA

    Unique Preservation of Neural Cells in Hutchinson- Gilford Progeria Syndrome Is Due to the Expression of the Neural-Specific miR-9 MicroRNA by Xavier Nissan, Sophie Blondel, Claire Navarro, Yves Maury, Cécile V. Denis, Mathilde Girard, Cécile Martinat, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Marc Peschanski

    Published 2012
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  5. 5
    Metformin decreases progerin expression and alleviates pathological defects of Hutchinson–Gilford progeria syndrome cells

    Metformin decreases progerin expression and alleviates pathological defects of Hutchinson–Gilford progeria syndrome cells by Anne-Laure Egesipe, Sophie Blondel, Alessandra Lo Cicero, Anne-Laure Jaskowiak, Claire Navarro, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Marc Peschanski, Xavier Nissan

    Published 2016
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  6. 6
    Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells

    Antisense-Based Progerin Downregulation in HGPS-Like Patients’ Cells by Karim Harhouri, Claire Navarro, Camille Baquerre, Nathalie Da Silva, Catherine Bartoli, Frank Casey, Guedenon Koffi Mawuse, Yassamine Doubaj, Nicolas Lévy, Annachiara De Sandre‐Giovannoli

    Published 2016
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  7. 7
    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

    Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) by Sahar Elouej, Ana Beleza‐Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean-Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre‐Giovannoli

    Published 2017
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  8. 8
    Lamin A Truncation in Hutchinson-Gilford Progeria

    Lamin A Truncation in Hutchinson-Gilford Progeria by Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Pierre Cau, Claire Navarro, Jeanne Amiel, Irène Boccaccio, Stanislas Lyonnet, Colin L. Stewart, Arnold Münnich, Martine Le Merrer, Nicolas Lévy

    Published 2003
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  9. 9
    Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse

    Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder Type 2) and Mouse by Annachiara De Sandre‐Giovannoli, Malika Chaouch, Serguei Kozlov, Jean-Michel Vallat, Mériem Tazir, Nadia Kassouri, Pierre Szepetowski, T. Hammadouche, Antoon Vandenberghe, Colin L. Stewart, Djamel Grid, Nicolas Lévy

    Published 2002
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  10. 10
    Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome

    Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome by Sophie Blondel, Anne-Laure Jaskowiak, Anne-Laure Egesipe, Amélie Le Corf, Claire Navarro, Véronique Cordette, Cécile Martinat, Yacine Laâbi, Karima Djabali, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Marc Peschanski, Xavier Nissan

    Published 2014
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  11. 11
    A conserved splicing mechanism of the LMNA gene controls premature aging

    A conserved splicing mechanism of the LMNA gene controls premature aging by Isabel C. López‐Mejía, Valentin Vautrot, Marion de Toledo, Isabelle Behm‐Ansmant, Cyril F. Bourgeois, Claire Navarro, Fernando G. Osorio, José M.P. Freije, James Stévenin, Annachiara De Sandre‐Giovannoli, Carlos López‐Otín, Nicolas Lévy, Christiane Branlant, Jamal Tazi

    Published 2011
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  12. 12
    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors

    Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors by Claire Navarro, Juan Cadiñanos, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Sébastien Courrier, Irène Boccaccio, Amandine Boyer, Wim J. Kleijer, Anja Wagner, Fabienne Giuliano, Frits A. Beemer, José M.P. Freije, Pierre Cau, Raoul C. M. Hennekam, Carlos López-Otı́n, Catherine Badens, Nicolas Lévy

    Published 2005
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  13. 13
    Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging

    Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging by Fernando G. Osorio, Claire Navarro, Juan Cadiñanos, Isabel C. López‐Mejía, Pedro M. Quirós, Catherine Bartoli, José Rivera, Jamal Tazi, Gabriela Guzmán, Ignacio Varela, D. Depétris, Félix de Carlos Villafranca, Juan Cobo, Vicente Andrés, Annachiara De Sandre‐Giovannoli, José M.P. Freije, Nicolas Lévy, Carlos López‐Otín

    Published 2011
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  14. 14
    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

    Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy by Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard, Irène Boccaccio, Amandine Boyer, David Geneviève, S. Hadj‐Rabia, C. Gaudy‐Marqueste, Henk Sillevis Smitt, P. Vabres, Laurence Bonhomme‐Faivre, Alain Verloès, Ton van Essen, Elisabeth Flori, Raoul C. M. Hennekam, Frits A. Beemer, Nicole Laurent, Martine Le Merrer, Pierre Cau, Nicolas Lévy

    Published 2004
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  15. 15
    Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation

    Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation by Sophie Blondel, A.-L. Egesipe, Paty K. Picardi, A-L Jaskowiak, Maria Notarnicola, J Ragot, Johana Tournois, Amélie Le Corf, Benjamin Brinon, Pauline Poydenot, Pauline Georges, Claire Navarro, Patrícia R. Pitrez, Lino Ferreira, Guillaume Bollot, Cyril Bauvais, Delphine Laustriat, Alexandre Méjat, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Maurizio Bifulco, Marc Peschanski, Xavier Nissan

    Published 2016
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  16. 16
    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

    Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology by Sahar Elouej, Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean‐François Deleuze, Agnès Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande‐Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre‐Giovannoli

    Published 2020
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  17. 17
    Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

    Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies by Karim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, Frédéric Anselme, Thomas Gossios, Neal K. Lakdawala, Caroline Stalens, Frédéric Sacher, Dominique Babuty, Jean‐Noël Trochu, Ghassan Moubarak, Kostantinos Savvatis, Raphaël Porcher, Pascal Laforêt, Abdallah Fayssoil, Éloi Marijon, Tanya Stojkovic, Anthony Béhin, Sarah Léonard-Louis, Guilhem Solé, Fabien Labombarda, Pascale Richard, Corinne Métay, Susana Quijano-Roy, Ivana Dabaj, Didier Klug, Marie‐Christine Vantyghem, Philippe Chevalier, Pı̈erre Ambrosi, Emmanuelle Salort, Nicolas Sadoul, Xavier Waintraub, Khadija Chikhaoui, Philippe Mabo, Nicolas Combes, Philippe Maury, Jean‐Marc Sellal, Usha B. Tedrow, Jonathan M. Kalman, Jitendra K. Vohra, Alexander F.A. Androulakis, Katja Zeppenfeld, T. Thompson, Christine Barnérias, Henri-Marc Bécane, Éric Bieth, Franck Boccara, Damien Bonnet, Françoise Bouhour, Stéphane Boulé, Anne‐Claire Bréhin, Françoise Chapon, Pascal Cintas, Jean‐Marie Cuisset, Jean‐Marc Davy, Annachiara De Sandre‐Giovannoli, Florence Démurger, Isabelle Desguerre, Klaus Dieterich, Julien Durigneux, Andoni Echaniz‐Laguna, Romain Eschalier, Ana Ferreiro, Xavier Ferrer, Christine Francannet, Mélanie Fradin, Bénédicte Gaborit, Arnaud Gay, Albert Hagège, Arnaud Isapof, Isabelle Jéru, Raúl Juntas Morales, Emmanuelle Lagrue, Nicolas Lamblin, Olivier Lascols, Vincent Laugel, Arnaud Lazarus, France Leturcq, Nicolas Lévy, Armelle Magot, Véronique Manel, Raphaël P. Martins, M. Mayer, Sandra Mercier, Christophe Meune, Maud Michaud, Marie-Christine Minot-Myhié, Antoine Muchir, Aleksandra Nadaj‐Pakleza, Yann Péréon, Philippe Petiot, Florence Petit, Julien Praline, Anne Rollin, Pascal Sabouraud, Catherine Sarret, S. Schaeffer, Frédéric Taithe, Céline Tard, V. Tiffreau

    Published 2019
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