Knut Brockmann
University Medical Center(US)Center for Children(US)Universitätsmedizin Göttingen(DE)Universitätsmedizin Göttingen(DE)University of Göttingen(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, RNA regulation and disease, Genomics and Rare Diseases, Glycogen Storage Diseases and Myoclonus
Most-Cited Works
- → A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome(2011)880 cited
- → A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene(2004)701 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak(2008)354 cited
- → Regional Age Dependence of Human Brain Metabolites from Infancy to Adulthood as Detected by Quantitative Localized Proton MRS(1999)314 cited
- → Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study(2012)264 cited