Search Results - Frederic Favreau

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  1. 1

    Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons by Nesrine Benslimane, Camille Loret, Pauline Chazelas, Frédéric Favreau, Pierre-Antoine Faye, Fabrice Lejeune, Anne-Sophie Lia

    Published 2024-02-01
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  2. 2

    The First Large Deletion of <i>ATL3</i> Identified in a Patient Presenting with a Sensory Polyneuropathy by Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia

    Published 2023-05-01
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  3. 3

    Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants by Camille Loret, Camille Scherrer, Amandine Rovini, Ioanna Pyromali, Pierre-Antoine Faye, Angélique Nizou, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia

    Published 2025-06-01
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  4. 4

    Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot–Marie–Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in <i>GDA... by Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia

    Published 2023-07-01
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  5. 5

    Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model by Camille Loret, Camille Scherrer, Amandine Rovini, Esther Lesage, Laurence Richard, Aurore Danigo, Franck Sturtz, Frédéric Favreau, Pierre-Antoine Faye, Anne-Sophie Lia

    Published 2025-03-01
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  6. 6

    One Multilocus Genomic Variation Is Responsible for a Severe Charcot–Marie–Tooth Axonal Form by Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia

    Published 2020-12-01
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  7. 7

    From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease by Camille Scherrer, Camille Loret, Nicolas Védrenne, Colman Buckley, Anne-Sophie Lia, Vincent Kermene, Franck Sturtz, Frédéric Favreau, Amandine Rovini, Pierre-Antoine Faye

    Published 2025-03-01
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  8. 8

    Optimized Protocol to Generate Spinal Motor Neuron Cells from Induced Pluripotent Stem Cells from Charcot Marie Tooth Patients by Pierre-Antoine Faye, Nicolas Vedrenne, Federica Miressi, Marion Rassat, Sergii Romanenko, Laurence Richard, Sylvie Bourthoumieu, Benoît Funalot, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia

    Published 2020-06-01
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  9. 9

    Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment by Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne

    Published 2022-08-01
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  10. 10

    CRISPR Base Editing to Create Potential Charcot–Marie–Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring <i>SH3TC2</i> Variants by Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia

    Published 2024-07-01
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  11. 11

    GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons by Federica Miressi, Nesrine Benslimane, Frédéric Favreau, Marion Rassat, Laurence Richard, Sylvie Bourthoumieu, Cécile Laroche, Laurent Magy, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia, Pierre-Antoine Faye

    Published 2021-08-01
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  12. 12

    Successful heart transplantation following melphalan plus dexamethasone therapy in systemic AL amyloidosis by Aude Mignot, Frank Bridoux, Antoine Thierry, Shaida Varnous, Myriam Pujo, Annick Delcourt, Jean Marc Gombert, Jean-Michel Goujon, Fréderic Favreau, Guy Touchard, Daniel Herpin, Arnaud Jaccard

    Published 2008-03-01
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  13. 13

    Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease by Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye

    Published 2020-10-01
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