Stéphanie Leruez
Clinique Saint-Joseph(BE)
Publications by Year
Research Areas
Mitochondrial Function and Pathology, ATP Synthase and ATPases Research, Glaucoma and retinal disorders, Metabolism and Genetic Disorders, Retinal Diseases and Treatments
Most-Cited Works
- → Ibrutinib monotherapy for relapse or refractory primary CNS lymphoma and primary vitreoretinal lymphoma: Final analysis of the phase II ‘proof-of-concept’ iLOC study by the Lymphoma study association (LYSA) and the French oculo-cerebral lymphoma (LOC) network(2019)307 cited
- → Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci(2017)156 cited
- → Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission(2017)121 cited
- → Nicotinamide Deficiency in Primary Open-Angle Glaucoma(2019)105 cited
- → A Metabolomics Profiling of Glaucoma Points to Mitochondrial Dysfunction, Senescence, and Polyamines Deficiency(2018)80 cited
- → Metabolomic Profiling of Aqueous Humor in Glaucoma Points to Taurine and Spermine Deficiency: Findings from the Eye-D Study(2019)72 cited
- → Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study(2021)67 cited
- → The metabolomic signature of Leber’s hereditary optic neuropathy reveals endoplasmic reticulum stress(2016)63 cited
- → OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database(2019)58 cited
- → OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology(2015)52 cited