Ioanna Pyromali
0000-0003-2840-8844
University of Limoges
5 papers found
Refreshing results…
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
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy
From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software
A mutation can hide another one: Think Structural Variants!
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