Agathe Roubertie
Inserm(FR)Inserm(FR)Université de Montpellier(FR)Centre Hospitalier Universitaire de Montpellier(FR)Centre Hospitalier Universitaire de Montpellier(FR)Hôpital Gui de Chauliac(FR)Institute for Neurosciences of Montpellier(FR)Hôpital Arnaud de Villeneuve(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neurological disorders and treatments, Genetic Neurodegenerative Diseases, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Treatment of DYT1-generalised dystonia by stimulation of the internal globus pallidus(2000)494 cited
- → Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome(2007)445 cited
- → Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study(2013)433 cited
- → Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects(2010)261 cited
- → Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome(2018)150 cited
- → Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications(2021)140 cited