Focus on 1,25-Dihydroxyvitamin D3 in the Peripheral Nervous System

by Pierre Antoine Faye, Pierre Antoine Faye, François Poumeaud, Federica Miressi, Anne Sophie Lia, Anne Sophie Lia, Claire Demiot, Laurent Magy, Frédéric Favreau, Frédéric Favreau, Franck G. Sturtz, Franck G. Sturtz
Published 2019-04-01

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

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

Hypercholesterolemia-induced increase in plasma oxidized LDL abrogated pro angiogenic response in kidney grafts

by Thomas Kerforne, Frédéric Favreau, Tackwa Khalifeh, Souleymane Maiga, Geraldine Allain, Antoine Thierry, Manuel Dierick, Edouard Baulier, Clara Steichen, Thierry Hauet
Published 2019-01-01

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

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

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

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

A mutation can hide another one: Think Structural Variants!

by Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Published 2020-01-01

Tannic Acid Improves Renal Function Recovery after Renal Warm Ischemia–Reperfusion in a Rat Model

by Louise Alechinsky, Frederic Favreau, Petra Cechova, Sofiane Inal, Pierre-Antoine Faye, Cecile Ory, Raphaël Thuillier, Benoit Barrou, Patrick Trouillas, Jerome Guillard, Thierry Hauet
Published 2020-03-01

Vectisol Formulation Enhances Solubility of Resveratrol and Brings Its Benefits to Kidney Transplantation in a Preclinical Porcine Model

by David Soussi, Jérôme Danion, Edouard Baulier, Frédéric Favreau, Ysé Sauvageon, Valentin Bossard, Xavier Matillon, Frédéric Turpin, El Mustapha Belgsir, Raphaël Thuillier, Thierry Hauet
Published 2019-05-01

Renal auto-transplantation promotes cortical microvascular network remodeling in a preclinical porcine model.

by Souleymane Maïga, Geraldine Allain, Thierry Hauet, Jerome Roumy, Edouard Baulier, Michel Scepi, Manuel Dierick, Luc Van Hoorebeke, Patrick Hannaert, Franck Guy, Frederic Favreau
Published 2017-01-01

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

The Key Role of Warm and Cold Ischemia in Uterus Transplantation: A Review

by Antoine Tardieu, Ludivine Dion, Vincent Lavoué, Pauline Chazelas, Pierre Marquet, Pascal Piver, Camille Sallée, Yves Aubard, Chantal Barin-Le Guellec, Frederic Favreau, Tristan Gauthier
Published 2019-05-01

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

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

A case report of a mild form of multiple acyl-CoA dehydrogenase deficiency due to compound heterozygous mutations in the ETFA gene

by Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye
Published 2020-01-01

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

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software

by Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Published 2021-01-01

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