Anne Roubergue
Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Hôpital Saint-Antoine(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Glycogen Storage Diseases and Myoclonus, Diet and metabolism studies, Genetics and Neurodevelopmental Disorders, Epilepsy research and treatment
Most-Cited Works
- → Dystonia and parkinsonism in GM1 type 3 gangliosidosis(2005)101 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
- → The multiple faces of the ATP1A3‐related dystonic movement disorder(2013)71 cited
- → From splitting GLUT1 deficiency syndromes to overlapping phenotypes(2015)69 cited
- → Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum(2008)69 cited
- → Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations(2010)48 cited