Sylviane Marouillat
6PUBLICATIONS
44CO-AUTHORS
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Publications (6)
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|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.Wallid Deb, Thomas Besnard, Florence Desprez
|Nov 25, 2025
Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro.Florence Desprez, Solène Remize, Liberty François-Moutal
|Aug 14, 2025
Improving ALS Molecular Diagnosis Through Functional Assays: Reassessment of a SOD1 Variant of Uncertain Significance.Léa Bedja-Iacona, Arthur Forget, Chloé Boisseau
|Nov 27, 2024
Dynamic Expression of Genes Encoding Ubiquitin Conjugating Enzymes (E2s) During Neuronal Differentiation and Maturation: Implications for Neurodevelopmental Disorders and Neurodegenerative Diseases.Agathe Paubel, Sylviane Marouillat, Audrey Dangoumau
|Sep 28, 2024
N-Terminal Fragments of TDP-43-In Vitro Analysis and Implication in the Pathophysiology of Amyotrophic Lateral Sclerosis and Frontotemporal Lobar Degeneration.Anna A Chami, Léa Bedja-Iacona, Elodie Richard
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Frequent Collaborators
3 joint publications
Frédéric Laumonnier
2 joint publications
Charlotte Veyrat-Durebex
2 joint publications
Philippe Corcia
1 joint publications
Anna A Chami
1 joint publications
Audrey Dangoumau
1 joint publications
Cédric Raoul
1 joint publications
Christian R Andres
1 joint publications
Camille Kumps
1 joint publications
Jean-Madeleine de Sainte Agathe
1 joint publications
Ghayda M Mirzaa