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STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity.
Heimdal K, Sanchez-Guixé M, Aukrust I, Bollerslev J, Bruland O, Jablonski GE, Erichsen AK, Gude E, Koht JA, Erdal S, Fiskerstrand T, Haukanes BI, Boman H, Bjørkhaug L, Tallaksen CM, Knappskog PM, Johansson S. Heimdal K, et al. Among authors: bruland o. Orphanet J Rare Dis. 2014 Sep 26;9:146. doi: 10.1186/s13023-014-0146-0. Orphanet J Rare Dis. 2014. PMID: 25258038 Free PMC article.
GBA2 Mutations Cause a Marinesco-Sjögren-Like Syndrome: Genetic and Biochemical Studies.
Haugarvoll K, Johansson S, Rodriguez CE, Boman H, Haukanes BI, Bruland O, Roque F, Jonassen I, Blomqvist M, Telstad W, Månsson JE, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: bruland o. PLoS One. 2017 Jan 4;12(1):e0169309. doi: 10.1371/journal.pone.0169309. eCollection 2017. PLoS One. 2017. PMID: 28052128 Free PMC article.
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies.
Holtan JP, Aukrust I, Jansson RW, Berland S, Bruland O, Gjerde BL, Stokowy T, Bojovic O, Forsaa V, Austeng D, Rødahl E, Bredrup C, Knappskog PM, Bragadóttir R. Holtan JP, et al. Among authors: bruland o. Acta Ophthalmol. 2021 Aug;99(5):e733-e746. doi: 10.1111/aos.14679. Epub 2020 Nov 30. Acta Ophthalmol. 2021. PMID: 33258285 Free article.
295 results