Showing 1 - 10 results of 10 for search 'Frédéric Favreau', query time: 0.03s
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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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Oxidative Stress Evaluation in Ischemia Reperfusion Models: Characteristics, Limits and Perspectives by Pauline Chazelas, Clara Steichen, Frédéric Favreau, Patrick Trouillas, Patrick Hannaert, Raphaël Thuillier, Sébastien Giraud, Thierry Hauet, Jérôme Guillard
Published 2021-02-01
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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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From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene by Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau, Cyril Goizet, Leila Lazaro, Martine Vitry, Paco Derouault, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Published 2022-02-01
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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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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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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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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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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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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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