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Publications by Roar Fjær

9 publications found

Original articles

Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK (2021)
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome
Hum Mol Genet, 30 (21), 1919-1931
DOI 10.1093/hmg/ddab144, PubMed 34124757

Myren-Svelstad S, Fjær R (2020)
[We suggest ‘antiseizure epileptic drug’]
Tidsskr Nor Laegeforen, 140 (14)
DOI 10.4045/tidsskr.20.0746, PubMed 33070598

Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K (2017)
Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder
Mol Genet Metab, 121 (4), 325-328
DOI 10.1016/j.ymgme.2017.06.004, PubMed 28673549

Moen MN, Fjær R, Hamdani EH, Laerdahl JK, Menchini RJ, Vigeland MD, Sheng Y, Undlien DE, Hassel B, Salih MA, El Khashab HY, Selmer KK, Chaudhry FA (2016)
Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport
Brain, 139 (Pt 12), 3109-3120
DOI 10.1093/brain/aww244, PubMed 27742667

Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK (2015)
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2
Eur J Med Genet, 58 (11), 624-8
DOI 10.1016/j.ejmg.2015.10.005, PubMed 26475232

Magnussen GI, Emilsen E, Giller Fleten K, Engesæter B, Nähse-Kumpf V, Fjær R, Slipicevic A, Flørenes VA (2015)
Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma
BMC Cancer, 15, 462
DOI 10.1186/s12885-015-1474-8, PubMed 26054341

Borthne A, Fjaer R, Smevik B (1988)
[Adrenal hematoma in newborn infants]
Tidsskr Nor Laegeforen, 108 (22), 1609-11
PubMed 3046047

Review articles

Stamberger H, Nikanorova M, Willemsen MH, Accorsi P, Angriman M, Baier H, Benkel-Herrenbrueck I, Benoit V, Budetta M, Caliebe A, Cantalupo G, Capovilla G, Casara G, Courage C, Deprez M, Destrée A, Dilena R, Erasmus CE, Fannemel M, Fjær R, Giordano L, Helbig KL, Heyne HO, Klepper J, Kluger GJ et al. (2016)
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy
Neurology, 86 (10), 954-62
DOI 10.1212/WNL.0000000000002457, PubMed 26865513

Other articles

Myren-Svelstad S, Fjaer R (2020)
We suggest "seizure prevention epilepsy medication"
Tidsskr. Nor. Laegeforen., 140 (14), 1422