Nathalie Dorison

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study

Sara Baldassari, Théo Ribierre, Elise Marsan et al. · Acta Neuropathologica · 2019 · 352 citations · Full text

Myoclonus–dystonia

Emmanuel Roze, Emmanuelle Apartis, F. Clot et al. · Neurology · 2008 · 130 citations

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by <i>EP300</i> mutations

Patricia Fergelot, Martine van Belzen, Julien Van‐Gils et al. · American Journal of Medical Genetics Part A · 2016 · 122 citations

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

Anne-Sophie Lèbre, Marlène Rio, L. Faivre d'Arcier et al. · Journal of Medical Genetics · 2010 · 96 citations · Full text

Novel<i>KCNQ2</i>and<i>KCNQ3</i>Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

Maria Virginia Soldovieri, Nadia Boutry‐Kryza, Mathieu Milh et al. · Human Mutation · 2013 · 95 citations

Genetics, Synaptic Transmission, Kcnq2 Encephalopathy +22