Stephane Fourcade

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 42 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia.

Journal: Aging cell

Published: May 10, 2024

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.

An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs.

Journal: Molecular therapy. Methods & clinical development

Published: April 30, 2024

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.

Journal: Brain : a journal of neurology

Published: October 02, 2023

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.

Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.

Journal: EBioMedicine

Published: April 18, 2023

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.

Journal: Genome medicine

Published: February 08, 2023

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Journal: The Journal of clinical investigation

Published: June 23, 2022

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.

Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.

Journal: Acta neuropathologica

Published: January 11, 2022

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

Journal: Neurology

Published: May 01, 2021

Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.

Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model.

Journal: Neuropathology and applied neurobiology

Published: October 30, 2020

The Value of Mouse Models of Rare Diseases: A Spanish Experience.

The Value of Mouse Models of Rare Diseases: A Spanish Experience.

Journal: Frontiers in genetics

Published: July 15, 2020

Showing 1-12 of 42

Last Updated: 09/26/2026