Knut Brockmann

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 872 citations · Full text

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

Alexandra M. Dumitrescu, Xiao-Hui Liao, Thomas B. Best et al. · The American Journal of Human Genetics · 2004 · 699 citations · Full text

Monocarboxylate Transporter Gene, Mendelian Disorder, Genetic Disorder +7

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu et al. · Nature Genetics · 2009 · 680 citations · Full text

Allergy, Autoimmune Disease, Pathogenesis +5

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

Yvonne Weber, Alexander Storch, Thomas V. Wuttke et al. · Journal of Clinical Investigation · 2008 · 354 citations · Full text

Electrolyte Disorder, Glut1 Mutations, Pathology +19

Regional Age Dependence of Human Brain Metabolites from Infancy to Adulthood as Detected by Quantitative Localized Proton MRS

Petra J. W. Pouwels, Knut Brockmann, Bernd Kruse et al. · Pediatric Research · 1999 · 314 citations · Full text

Brain Structure, Developmental Cognitive Neuroscience, Neurochemical Biomarkers +8