Delphine Roussel

Ataluren (PTC124) Induces Cystic Fibrosis Transmembrane Conductance Regulator Protein Expression and Activity in Children with Nonsense Mutation Cystic Fibrosis

Isabelle Sermet‐Gaudelus, K. De Boeck, Georges Casimir et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 240 citations

Medicine, Pediatrics, Pharmacology +16

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Théo Ribierre, Charlotte Deleuze, Alexandre Bacq et al. · Journal of Clinical Investigation · 2018 · 238 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Neutrophil Elastase Degrades Cystic Fibrosis Transmembrane Conductance Regulator via Calpains and Disables Channel Function <i>In Vitro</i> and <i>In Vivo</i>

Mathieu Le Gars, Delphyne Descamps, Delphine Roussel et al. · American Journal of Respiratory and Critical Care Medicine · 2012 · 105 citations

Life Sciences, Molecular Biology, Physiology +17

Depdc5 knockout rat: A novel model of mTORopathy

Elise Marsan, Saeko Ishida, Adrien E. Schramm et al. · Neurobiology of Disease · 2016 · 99 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport

Isabelle Sermet‐Gaudelus, E. Girodon, Dorota Sands et al. · American Journal of Respiratory and Critical Care Medicine · 2010 · 68 citations

Medicine, Genetics, Pediatrics +15