Agatha Schlüter Martin

4PUBLICATIONS
232CO-AUTHORS
Neurology and neuromuscular diseasesOrganic chemical synthesisGene expression (incl. microarray and other genome-wide approaches)Predictive and prognostic markers
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Publications (4)

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Dec 20, 2022
Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children.

Danyel Lee, Jérémie Le Pen, Ahmad Yatim

|Nov 27, 2020
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy.

Agustí Rodríguez-Palmero, Agatha Schlüter, Edgard Verdura

|Sep 25, 2020
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.

Qian Zhang, Paul Bastard, Zhiyong Liu

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Frequent Collaborators

4 joint publications

Aurora Pujol

2 joint publications

Qian Zhang

2 joint publications

Paul Bastard

2 joint publications

Jérémie Le Pen