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European Journal of Cell Biology|March 28, 2025
Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variantsCamille Loret, Camille Scherrer, Amandine Rovini, et al.Biomedicines|June 28, 2023
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory PolyneuropathyIoanna Pyromali, Laurence Richard, Paco Derouault, et al.Journal of Personalized Medicine|February 25, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal GeneIoanna Pyromali, Nesrine Benslimane, Frédéric Favreau, et al.Computational and Structural Biotechnology Journal|August 25, 2020
A mutation can hide another one: Think Structural Variants!Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, et al.Pharmaceuticals (Basel, Switzerland)|July 29, 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 GeneNesrine Benslimane, Federica Miressi, Camille Loret, et al.Biomedicines|July 27, 2024
CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 VariantsCamille Loret, Amandine Pauset, Pierre-Antoine Faye, et al.Computational and Structural Biotechnology Journal|August 25, 2021
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan softwareIoanna Pyromali, Alexandre Perani, Angélique Nizou, et al.Pageof 1