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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M. Iqbal Z, et al. Among authors: tallaksen cm. PLoS One. 2017 Mar 31;12(3):e0174667. doi: 10.1371/journal.pone.0174667. eCollection 2017. PLoS One. 2017. PMID: 28362824 Free PMC article.
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 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
Benign hereditary chorea, not only chorea: a family case presentation.
Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM. Koht J, et al. Among authors: tallaksen cm. Cerebellum Ataxias. 2016 Feb 2;3:3. doi: 10.1186/s40673-016-0041-7. eCollection 2016. Cerebellum Ataxias. 2016. PMID: 26839702 Free PMC article.
112 results