Nathalie Dorison
Fondation de Rothschild(FR)
Publications by Year
Research Areas
Epilepsy research and treatment, Neurological disorders and treatments, Genomics and Rare Diseases, Neuroscience and Neuropharmacology Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Dissecting the genetic basis of focal cortical dysplasia: a large cohort study(2019)356 cited
- → Myoclonus–dystonia(2008)131 cited
- → Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature(2017)123 cited
- → Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations(2016)122 cited
- → KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation(2020)104 cited
- → A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency(2010)96 cited
- → NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A(2013)96 cited
- → Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2(2013)91 cited
- → Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia(2018)75 cited
- → Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders(2013)69 cited