Sophie Nicole
Centre National de la Recherche Scientifique(FR)Inserm(FR)Duke University(US)Université de Montpellier(FR)Washington University in St. Louis(US)Institute for Neurosciences of Montpellier(FR)Laboratoire d'Excellence Canaux Ioniques d'Intérêt Thérapeutique(FR)Institute for Gerontological Research(DE)Saint Louis University(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Ion channel regulation and function, Genetics and Neurodevelopmental Disorders, Neurogenetic and Muscular Disorders Research, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → HLA-A*3101 and Carbamazepine-Induced Hypersensitivity Reactions in Europeans(2011)905 cited
- → De novo mutations in ATP1A3 cause alternating hemiplegia of childhood(2012)418 cited
- → Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease(2018)362 cited
- → Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)(2000)296 cited
- → Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current(2000)265 cited
- → Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes(2010)259 cited