Stéphane Fourcade

Biochemistry, Genetics and Molecular Biology · Life Sciences

32h-index2.7kcitations63works3.82yr avg
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Research Topics

Peroxisome Proliferator-Activated Receptors(34), Adipose Tissue and Metabolism(22), Mitochondrial Function and Pathology(12), Metabolism and Genetic Disorders(11), RNA regulation and disease(9)

Publications63 total

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics·2025Open Access
Additional Cover
Aging Cell·2025Open Access
Altered tubulin detyrosination due to <scp>SVBP</scp> malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Aging Cell·2024· 4 citedOpen Access
An in vitro and in vivo efficacy evaluation of gene therapy candidate SBT101 in mouse models of adrenomyeloneuropathy and in NHPs
Molecular Therapy — Methods & Clinical Development·2024· 4 citedOpen Access
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy
Brain·2024· 11 citedOpen Access
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization
Genome Medicine·2023· 8 citedOpen Access
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy
EBioMedicine·2023· 30 citedOpen Access
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
Journal of Clinical Investigation·2023· 32 citedOpen Access
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy
Acta Neuropathologica·2022· 9 cited
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization
Neurology·2022· 22 citedOpen Access
Modulation of mitochondrial and inflammatory homeostasis through RIP140 is neuroprotective in an adrenoleukodystrophy mouse model
Neuropathology and Applied Neurobiology·2021· 9 cited
The Value of Mouse Models of Rare Diseases: A Spanish Experience
Frontiers in Genetics·2020· 21 citedOpen Access
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
Acta Neuropathologica·2020· 44 citedOpen Access
A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy
Annals of Clinical and Translational Neurology·2020· 5 citedOpen Access
High‐dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy
Brain Pathology·2020· 22 citedOpen Access
<scp> <i>HNRNPH1</i> </scp> ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome
Clinical Genetics·2020· 43 citedOpen Access
Author response for "&lt;scp&gt; &lt;i&gt;HNRNPH1&lt;/i&gt; &lt;/scp&gt; ‐related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome"
2020
The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy
Free Radical Biology and Medicine·2020· 26 citedOpen Access
A deep intronic splice variant advises reexamination of presumably dominant <i>SPG7</i> Cases
Annals of Clinical and Translational Neurology·2019· 23 citedOpen Access
Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia
Journal of Medical Genetics·2019· 53 citedOpen Access
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Frequent Co-authors

Aurora Pujol(45), Montserrat Ruíz(30), Agatha Schlüter(23), Isidró Ferrer(18), Manuel Portero-Otı́n(15), Reinald Pamplona(14), Nathalie Launay(12), Carlos Casasnovas(12), Alba Naudí(11), Cristina Guilera(10), Jorge Galino(9), Jone López‐Erauskin(8), Mariona Jové(7), Laura Planas‐Serra(7), Francesc Villarroya(6), Noel Y. Calingasan(6), Edgard Verdura(6), Juan José Martínez(5), Laia Morató(5), M. Flint Beal(5)