Bregje Jaeger

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Vincenzo Salpietro, Christine L. Dixon, Hui Guo et al. · Nature Communications · 2019 · 236 citations · Full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke Schouten, Judith van Gaalen et al. · European Journal of Human Genetics · 2019 · 91 citations · Full text

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Bregje Jaeger, N. G. G. M. Abeling, Gajja S. Salomons et al. · Molecular Genetics and Metabolism Reports · 2016 · 32 citations · Full text

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

Tessa van Dijk, Fred van Ruissen, Bregje Jaeger et al. · JIMD Reports · 2016 · 21 citations · Full text

The verbal fluency index: Dutch normative data for cognitive testing in ALS

Emma Beeldman, Bregje Jaeger, Joost Raaphorst et al. · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · 2014 · 16 citations