Sylviane Marouillat

7PUBLICATIONS
47CO-AUTHORS
Genome structure and regulationNeurology and neuromuscular diseasesNeurogeneticsNatural language processing
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Publications (7)

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|May 27, 2026
From Mutation to Manifestation: Penetrance in Amyotrophic Lateral Sclerosis.

|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

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Frequent Collaborators

4 joint publications

Frédéric Laumonnier

2 joint publications

Hane Lee

2 joint publications

Charlotte Veyrat-Durebex

2 joint publications

Philippe Corcia