檢索結果 - Frederic Favreau

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

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

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

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A mutation can hide another one: Think Structural Variants! 由 Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia

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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... 由 Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia

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

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

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

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Renal auto-transplantation promotes cortical microvascular network remodeling in a preclinical porcine model. 由 Souleymane Maïga, Geraldine Allain, Thierry Hauet, Jerome Roumy, Edouard Baulier, Michel Scepi, Manuel Dierick, Luc Van Hoorebeke, Patrick Hannaert, Franck Guy, Frederic Favreau

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

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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 由 Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne

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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 由 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

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GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons 由 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

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Successful heart transplantation following melphalan plus dexamethasone therapy in systemic AL amyloidosis 由 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

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Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease 由 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

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