Publications by authors named "S Fourcade"

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Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.
Laura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Stéphane Fourcade

Am J Hum Genet· November 2025

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Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.
Nathalie Launay, Maria Espinosa-Alcantud, Edgard Verdura, Gorka Fernández-Eulate, Jon Ondaro, Stephane Fourcade

Aging Cell· January 2025

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An and efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.
Vidyullatha Vasireddy, Casey A Maguire, David W Anderson, Carrie Ng, Yi Gong, Stéphane Fourcade

Mol Ther Methods Clin Dev· December 2024

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Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Nathalie Launay, Jone Lopez-Erauskin, Patrizia Bianchi, Sanjib Guha, Janani Parameswaran, Stéphane Fourcade

Brain· June 2024

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Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Isabelle Weinhofer, Paulus Rommer, Andreas Gleiss, Markus Ponleitner, Bettina Zierfuss, Stéphane Fourcade

EBioMedicine· October 2023

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