Nathalie Pironon
5PUBLICATIONS
18CO-AUTHORS
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Publications (5)
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|Aug 04, 2025
A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma.Xingyuan Jiang, Ryland D Mortlock, Nathalie Pironon
|Dec 13, 2024
Epidermolysis Bullosa Simplex due to a Novel BPAG1-e Homozygous Pathogenic Variant Revealed by Bullous Scabies.Nathalie Pironon, Anne Welfringer-Morin, Stéphanie Leclerc-Mercier
|Dec 05, 2024
Novel variants impairing Sp1 transcription factor binding in the COL7A1 promoter cause mild cases of recessive dystrophic epidermolysis bullosa.Nathalie Pironon, Artyom Gasparyan, María Joao Yubero
|Aug 19, 2024
Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa.Nathalie Pironon, Emmanuelle Bourrat, Catherine Prost
|Sep 27, 2019
EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.S Gaucher, S M Lwin, M Titeux
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Frequent Collaborators
3 joint publications
Matthias Titeux
3 joint publications
Emmanuelle Bourrat
3 joint publications
Alain Hovnanian
1 joint publications
S Gaucher
1 joint publications
S M Lwin
1 joint publications
A Abdul-Wahab
1 joint publications
A Izmiryan
1 joint publications
S Miskinyte
1 joint publications
C Ganier
1 joint publications
S Duchatelet
