Frederike L. Harms

Mannose receptor induces T-cell tolerance via inhibition of CD45 and up-regulation of CTLA-4

Verena Schuette, Maria Embgenbroich, Thomas Ulas et al. · Proceedings of the National Academy of Sciences · 2016 · 96 citations · Full text

Mr Expression, Autoimmune Disease, Allergy +14

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

Steffen Syrbe, Frederike L. Harms, Elena Parrini et al. · Brain · 2017 · 96 citations · Full text

Neurogenomics, Brain Development, Neurological Disorder +23

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

Frederike L. Harms, Katta M. Girisha, Andrew A. Hardigan et al. · The American Journal of Human Genetics · 2016 · 84 citations · Full text

Facial Dysmorphism, Genetic Disorder, Cause Intellectual Disability +5

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

Frederike L. Harms, Katja Kloth, Annette Bley et al. · The American Journal of Human Genetics · 2018 · 72 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Developmental Biology +9

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

Juliette Piard, George K. E. Umanah, Frederike L. Harms et al. · Brain · 2017 · 59 citations · Full text

Synaptic Transmission, Molecular Biology, Lethal Encephalopathy +20