Nathalie Launay
Madrid, MD, Spain
Last Updated: 09/26/2026
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Found 17 publications
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
Imbalanced mitochondrial dynamics contributes to the pathogenesis of X-linked adrenoleukodystrophy.
Journal: Brain : a journal of neurology
Published: October 02, 2023
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.
Journal: The Journal of clinical investigation
Published: June 23, 2022
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Journal: The Journal of clinical investigation
Published: June 17, 2022
Loss of seryl-tRNA synthetase (SARS1) causes complex spastic paraplegia and cellular senescence.
Journal: Journal of medical genetics
Published: March 01, 2022
High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy.
Journal: Brain pathology (Zurich, Switzerland)
Published: February 28, 2020
A novel mutation in the GFAP gene expands the phenotype of Alexander disease.
Journal: Journal of medical genetics
Published: December 20, 2018
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Journal: The Journal of clinical investigation
Published: August 16, 2018
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.
Journal: EMBO molecular medicine
Published: July 13, 2018
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.
Journal: Brain pathology (Zurich, Switzerland)
Published: April 19, 2017
Last Updated: 09/26/2026