Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis I Sermet-Gaudelus, KD Boeck, GJ Casimir, F Vermeulen, T Leal, ... American journal of respiratory and critical care medicine 182 (10), 1262-1272, 2010 | 293 | 2010 |
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy T Ribierre, C Deleuze, A Bacq, S Baldassari, E Marsan, M Chipaux, ... The Journal of clinical investigation 128 (6), 2452-2458, 2018 | 229 | 2018 |
Neutrophil Elastase Degrades Cystic Fibrosis Transmembrane Conductance Regulator via Calpains and Disables Channel Function In Vitro and In Vivo M Le Gars, D Descamps, D Roussel, E Saussereau, L Guillot, M Ruffin, ... American journal of respiratory and critical care medicine 187 (2), 170-179, 2013 | 128 | 2013 |
Depdc5 knockout rat: a novel model of mTORopathy E Marsan, S Ishida, A Schramm, S Weckhuysen, G Muraca, S Lecas, ... Neurobiology of disease 89, 180-189, 2016 | 104 | 2016 |
Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport I Sermet-Gaudelus, E Girodon, D Sands, N Stremmler, V Vavrova, ... American journal of respiratory and critical care medicine 182 (7), 929-936, 2010 | 85 | 2010 |
Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis I Sermet-Gaudelus, E Girodon, D Roussel, E Deneuville, S Bui, F Huet, ... Thorax 65 (6), 539-544, 2010 | 66 | 2010 |
Characterization of SLC 26 A 9 in Patients with CF‐Like Lung Disease N Bakouh, T Bienvenu, A Thomas, J Ehrenfeld, H Liote, D Roussel, ... Human mutation 34 (10), 1404-1414, 2013 | 49 | 2013 |
Skin-derived neural precursors competitively generate functional myelin in adult demyelinated mice S Mozafari, C Laterza, D Roussel, C Bachelin, A Marteyn, C Deboux, ... The Journal of clinical investigation 125 (9), 3642-3656, 2015 | 43 | 2015 |
Neuroglobin involvement in visual pathways through the optic nerve C Lechauve, S Augustin, D Roussel, JA Sahel, M Corral-Debrinski Biochimica et Biophysica Acta (BBA)-Proteins and Proteomics 1834 (9), 1772-1778, 2013 | 42 | 2013 |
Neuroglobin can prevent or reverse glaucomatous progression in DBA/2J mice H Cwerman-Thibault, C Lechauve, S Augustin, D Roussel, É Reboussin, ... Molecular therapy Methods & clinical development 5, 200-220, 2017 | 40 | 2017 |
Multiple sclerosis iPS-derived oligodendroglia conserve their properties to functionally interact with axons and glia in vivo S Mozafari, L Starost, B Manot-Saillet, B Garcia-Diaz, YKT Xu, D Roussel, ... Science advances 6 (49), eabc6983, 2020 | 34 | 2020 |
Neuroglobin gene therapy prevents optic atrophy and preserves durably visual function in Harlequin mice C Lechauve, S Augustin, H Cwerman-Thibault, É Reboussin, D Roussel, ... Molecular Therapy 22 (6), 1096-1109, 2014 | 34 | 2014 |
Ataluren (PTC124) induces CFTR protein expression and activity in children with nonsense mutation cystic fibrosis I Sermet-Gaudelus, K De Boeck, GJ Casimir, F Vermeulen, T Leal, ... Am J Respir Crit Care Med 182 (10), 1262-72, 2010 | 27 | 2010 |
Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy A Bacq, D Roussel, T Bonduelle, S Zagaglia, M Maletic, T Ribierre, ... Annals of Neurology 91 (1), 101-116, 2022 | 25 | 2022 |
Dexamethasone impairs muscle energetics, studied by 31P NMR, in rats JF Dumas, G Bielicki, JP Renou, D Roussel, PH Ducluzeau, Y Malthièry, ... Diabetologia 48, 328-335, 2005 | 23 | 2005 |
Characterization of Nasal Potential Difference in cftr Knockout and F508del-CFTR Mice EL Saussereau, D Roussel, S Diallo, L Debarbieux, A Edelman, ... PloS one 8 (3), e57317, 2013 | 18 | 2013 |
The CF-CIRC study: a French collaborative study to assess the accuracy of cystic fibrosis diagnosis in neonatal screening I Sermet-Gaudelus, D Roussel, S Bui, E Deneuville, F Huet, P Reix, ... BMC pediatrics 6, 1-7, 2006 | 18 | 2006 |
Kv1. 1 channels inhibition in the rat motor cortex recapitulates seizures associated with anti-LGI1 encephalitis P Baudin, S Whitmarsh, L Cousyn, D Roussel, S Lecas, K Lehongre, ... Progress in Neurobiology 213, 102262, 2022 | 17 | 2022 |
The amyotrophic lateral sclerosis M114T PFN1 mutation deregulates alternative autophagy pathways and mitochondrial homeostasis E Teyssou, L Chartier, D Roussel, ND Perera, I Nemazanyy, D Langui, ... International Journal of Molecular Sciences 23 (10), 5694, 2022 | 16 | 2022 |
Disturbances of brain cholesterol metabolism: a new excitotoxic process associated with status epilepticus A Hanin, P Baudin, S Demeret, D Roussel, S Lecas, E Teyssou, ... Neurobiology of Disease 154, 105346, 2021 | 16 | 2021 |