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CHD2 mutations in Lennox-Gastaut syndrome.
Epilepsy Behav. 2014 Apr;33:18-21. doi: 10.1016/j.yebeh.2014.02.005. Epub 2014 Mar 12.
Epilepsy Behav. 2014.
PMID: 24614520
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Fjaer R, Brodtkorb E, Øye AM, Sheng Y, Vigeland MD, Kvistad KA, Backe PH, Selmer KK.
Fjaer R, et al. Among authors: oye am.
Eur J Med Genet. 2015 Nov;58(11):624-8. doi: 10.1016/j.ejmg.2015.10.005. Epub 2015 Oct 19.
Eur J Med Genet. 2015.
PMID: 26475232
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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
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.
Fjær R, et al. Among authors: oye am.
Hum Mol Genet. 2021 Oct 13;30(21):1919-1931. doi: 10.1093/hmg/ddab144.
Hum Mol Genet. 2021.
PMID: 34124757
Free PMC article.
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Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK.
Rydning SL, et al. Among authors: oye am.
Hum Mol Genet. 2017 Mar 15;26(6):1031-1040. doi: 10.1093/hmg/ddw391.
Hum Mol Genet. 2017.
PMID: 28007905
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Novel UCHL1 mutations reveal new insights into ubiquitin processing.
Rydning SL, Backe PH, Sousa MML, Iqbal Z, Øye AM, Sheng Y, Yang M, Lin X, Slupphaug G, Nordenmark TH, Vigeland MD, Bjørås M, Tallaksen CM, Selmer KK.
Rydning SL, et al. Among authors: oye am.
Hum Mol Genet. 2017 Mar 15;26(6):1217-1218. doi: 10.1093/hmg/ddx072.
Hum Mol Genet. 2017.
PMID: 28334853
No abstract available.
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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.
Bjørgo K, Fjær R, Mørk HH, Ferdinandusse S, Falkenberg KD, Waterham HR, Øye AM, Sikiric A, Amundsen SS, Kulseth MA, Selmer K.
Bjørgo K, et al. Among authors: oye am.
Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.
Mol Genet Metab. 2017.
PMID: 28673549
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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Lund C, Striano P, Sorte HS, Parisi P, Iacomino M, Sheng Y, Vigeland MD, Øye AM, Møller RS, Selmer KK, Zara F.
Lund C, et al. Among authors: oye am.
Mol Syndromol. 2016 Sep;7(4):234-238. doi: 10.1159/000448367. Epub 2016 Aug 17.
Mol Syndromol. 2016.
PMID: 27781033
Free PMC article.
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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM.
Rydning SL, et al. Among authors: oye am.
Eur J Neurol. 2016 Apr;23(4):763-71. doi: 10.1111/ene.12937. Epub 2016 Jan 12.
Eur J Neurol. 2016.
PMID: 26756429
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