Selmer KK - Search Results

1

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK. Rydning SL, et al. Among authors: selmer kk. Brain. 2019 Apr 1;142(4):e12. doi: 10.1093/brain/awz041. Brain. 2019. PMID: 30847471 Free PMC article. No abstract available.

2

Parental SCN1A mutation mosaicism in familial Dravet syndrome.

Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Clin Genet. 2009 Oct;76(4):398-403. doi: 10.1111/j.1399-0004.2009.01208.x. Epub 2009 Aug 10. Clin Genet. 2009. PMID: 19673951

3

A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.

Selmer KK, Gilfillan GD, Strømme P, Lyle R, Hughes T, Hjorthaug HS, Brandal K, Nakken S, Misceo D, Egeland T, Munthe LA, Braekken SK, Undlien DE. Selmer KK, et al. Eur J Hum Genet. 2012 Jan;20(1):58-63. doi: 10.1038/ejhg.2011.126. Epub 2011 Jun 29. Eur J Hum Genet. 2012. PMID: 21712855 Free PMC article.

4

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions.

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C. Wedding IM, et al. Among authors: selmer kk. PLoS One. 2014 Jan 22;9(1):e86340. doi: 10.1371/journal.pone.0086340. eCollection 2014. PLoS One. 2014. PMID: 24466038 Free PMC article.

5

Friedreich ataxia in Norway - an epidemiological, molecular and clinical study.

Wedding IM, Kroken M, Henriksen SP, Selmer KK, Fiskerstrand T, Knappskog PM, Berge T, Tallaksen CM. Wedding IM, et al. Among authors: selmer kk. Orphanet J Rare Dis. 2015 Sep 4;10:108. doi: 10.1186/s13023-015-0328-4. Orphanet J Rare Dis. 2015. PMID: 26338206 Free PMC article.

6

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: selmer kk. 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

7

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: selmer kk. Eur J Neurol. 2016 Apr;23(4):763-71. doi: 10.1111/ene.12937. Epub 2016 Jan 12. Eur J Neurol. 2016. PMID: 26756429

8

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector.

Vigeland MD, Gjøtterud KS, Selmer KK. Vigeland MD, et al. Among authors: selmer kk. Bioinformatics. 2016 May 15;32(10):1592-4. doi: 10.1093/bioinformatics/btw046. Epub 2016 Jan 27. Bioinformatics. 2016. PMID: 26819469 Free PMC article.

9

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

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. Moen MN, et al. Among authors: selmer kk. Brain. 2016 Dec;139(Pt 12):3109-3120. doi: 10.1093/brain/aww244. Epub 2016 Oct 14. Brain. 2016. PMID: 27742667

10

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: selmer kk. 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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