Rune Østern

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Scott C. Bell, Justine Rousseau, Huashan Peng et al. · The American Journal of Human Genetics · 2019 · 90 citations · Full text

Life Sciences, Genetics, Neuroscience +14

Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

Rune Østern, Toril Fagerheim, Helene Hjellnes et al. · BMC Medical Genetics · 2013 · 41 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Hereditary motor neuron disease in a large Norwegian family with a “H46R” substitution in the superoxide dismutase 1 gene

Rune Østern, Toril Fagerheim, Kristin Ørstavik et al. · Neuromuscular Disorders · 2012 · 16 citations

Life Sciences, Genetics, Molecular Genetics +17