Oddveig Rosby
Oslo, Norway
Last Updated: 09/26/2026
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Found 9 publications
Leber Hereditary Optic Neuropathy Case Report: Clinical Presentation and Treatment with Idebenone Reinforce the Evidence for m.3866T>C as a Causative Variant.
Journal: Case reports in ophthalmology
Published: January 17, 2024
Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.
Journal: Journal of neurodevelopmental disorders
Published: January 25, 2018
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Journal: Human mutation
Published: June 15, 2016
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.
Primary familial brain calcification in a Norwegian family, caused by a novel SLC20A2 gene mutation.
Journal: Journal of neurology
Published: October 29, 2015
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Journal: Human mutation
Published: September 21, 2015
Aicardi syndrome: an epidemiologic and clinical study in Norway.
Journal: Pediatric neurology
Published: September 02, 2014
CHD2 mutations in Lennox-Gastaut syndrome.
Journal: Epilepsy & behavior : E&B
Published: December 20, 2013
Copy number variants in adult patients with Lennox-Gastaut syndrome features.
Journal: Epilepsy research
Published: October 12, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026