Frederic Favreau
Limoges, 87000, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 42 publications
New double homozygous GDAP1 variations associated with polyneuropathy and prominent inflammatory features in unrelated individuals from Indian Ocean islands.
Journal: Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Published: November 12, 2024
Addressing myelination disorders: Novel strategies using human 3D peripheral nerve model.
Journal: Brain research bulletin
Published: August 28, 2024
Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.
Journal: European journal of cell biology
Published: July 28, 2024
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Journal: Journal of tissue engineering
Published: June 10, 2024
CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.
Journal: Biomedicines
Published: May 28, 2024
Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: December 28, 2023
Improvement of Charcot-Marie-Tooth Phenotype with a Nanocomplex Treatment in Two Transgenic Models of CMT1A.
Journal: Biomaterials research
Published: November 11, 2023
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 GDAP1 Gene.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: May 26, 2023
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.
Journal: Biomedicines
Published: April 13, 2023
Early Diagnosis in Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS) by Focusing on Major Clinical Clues: Beyond Ataxia and Vestibular Impairment.
Journal: Biomedicines
Published: July 21, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.
Journal: Journal of personalized medicine
Published: January 09, 2022
GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons.
Journal: Biomedicines
Published: June 29, 2021
Last Updated: 09/26/2026