Ioanna Pyromali

4PUBLICATIONS
10CO-AUTHORS
Regenerative medicine (incl. stem cells)Medical molecular engineering of nucleic acids and proteinsNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Jul 27, 2024
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.

Camille Loret, Amandine Pauset, Pierre-Antoine Faye

|Jul 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 <i>GDAP1</i> Gene.

Nesrine Benslimane, Federica Miressi, Camille Loret

|Jun 28, 2023
The First Large Deletion of <i>ATL3</i> Identified in a Patient Presenting with a Sensory Polyneuropathy.

Ioanna Pyromali, Laurence Richard, Paco Derouault

|Feb 25, 2022
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.

Ioanna Pyromali, Nesrine Benslimane, Frédéric Favreau

Pageof 1

Frequent Collaborators

4 joint publications

Frédéric Favreau

3 joint publications

Anne-Sophie Lia

2 joint publications

Franck Sturtz

2 joint publications

Camille Loret