Stella‐Amrei Kunde

Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly

Sarah A. Shoichet, Stella‐Amrei Kunde, Petra Viertel et al. · Human Genetics · 2005 · 113 citations

Severe Mental Retardation, Mendelian Disorder, Brain Development +12

Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients

Stella‐Amrei Kunde, Nils Rademacher, Andreas Tzschach et al. · Human Genetics · 2013 · 76 citations

Neurodegenerative Diseases, Unrelated Patients, Genetic Disorder +12

The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA granules and regulates the appearance of stress granules

Stella‐Amrei Kunde, Luciana Musante, Acadia L. Grimme et al. · Human Molecular Genetics · 2011 · 60 citations · Full text

Intramolecular domain dynamics regulate synaptic MAGUK protein interactions

Nils Rademacher, Benno Kuropka, Stella‐Amrei Kunde et al. · eLife · 2019 · 42 citations · Full text

Common pathological mutations in<i>PQBP1</i>induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon

Luciana Musante, Stella‐Amrei Kunde, Tina O. Sulistio et al. · Human Mutation · 2009 · 20 citations

Engineering, Genetics, Molecular Biology +16