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Parental SCN1A mutation mosaicism in familial Dravet syndrome.
Selmer KK, Eriksson AS, Brandal K, Egeland T, Tallaksen C, Undlien DE. Selmer KK, et al. Among authors: tallaksen c. 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
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. Hum Mol Genet. 2017 Mar 15;26(6):1031-1040. doi: 10.1093/hmg/ddw391. Hum Mol Genet. 2017. PMID: 28007905
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. Hum Mol Genet. 2017 Mar 15;26(6):1217-1218. doi: 10.1093/hmg/ddx072. Hum Mol Genet. 2017. PMID: 28334853 No abstract available.
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: tallaksen cm. Eur J Neurol. 2016 Apr;23(4):763-71. doi: 10.1111/ene.12937. Epub 2016 Jan 12. Eur J Neurol. 2016. PMID: 26756429
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: tallaksen cm. PLoS One. 2014 Jan 22;9(1):e86340. doi: 10.1371/journal.pone.0086340. eCollection 2014. PLoS One. 2014. PMID: 24466038 Free PMC article.
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).
Schlipf NA, Beetz C, Schüle R, Stevanin G, Erichsen AK, Forlani S, Zaros C, Karle K, Klebe S, Klimpe S, Durr A, Otto S, Tallaksen CM, Riess O, Brice A, Bauer P, Schöls L. Schlipf NA, et al. Among authors: tallaksen cm. Eur J Hum Genet. 2010 Sep;18(9):1065-7. doi: 10.1038/ejhg.2010.68. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461110 Free PMC article.
122 results