Catherine Antar

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar et al. · Molecular Psychiatry · 2009 · 143 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +13

Untargeted¹H-NMR metabolomics in CSF

Hélène Blasco, Lydie Nadal‐Desbarats, Pierre‐François Pradat et al. · Neurology · 2014 · 37 citations

A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in Phenylketonuria

Hélène Blasco, Charlotte Veyrat‐Durebex, Marylène Bertrand et al. · JIMD Reports · 2016 · 25 citations · Full text

Filter paper saturated by urine sample in metabolic disorders detection by proton magnetic resonance spectroscopy

Hélène Blasco, M.A. Garrigue, Aymeric De Vos et al. · Analytical and Bioanalytical Chemistry · 2009 · 13 citations

Urine Sample, Metabolic Disorders Detection, Medicine +13

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria

Charlotte Veyrat‐Durebex, Christelle Debeissat, Hélène Blasco et al. · JIMD Reports · 2017 · 12 citations · Full text