Tzoulis C - Search Results

1

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci.

Gaare JJ, Nido G, Dölle C, Sztromwasser P, Alves G, Tysnes OB, Haugarvoll K, Tzoulis C. Gaare JJ, et al. Among authors: tzoulis c. PLoS One. 2020 Oct 1;15(10):e0239824. doi: 10.1371/journal.pone.0239824. eCollection 2020. PLoS One. 2020. PMID: 33002040 Free PMC article.

2

Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.

Balafkan N, Tzoulis C, Müller B, Haugarvoll K, Tysnes OB, Larsen JP, Bindoff LA. Balafkan N, et al. Among authors: tzoulis c. Mitochondrion. 2012 Nov;12(6):640-3. doi: 10.1016/j.mito.2012.08.004. Epub 2012 Aug 29. Mitochondrion. 2012. PMID: 22963882

3

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.

Haugarvoll K, Johansson S, Tzoulis C, Haukanes BI, Bredrup C, Neckelmann G, Boman H, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: tzoulis c. Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1. Orphanet J Rare Dis. 2013. PMID: 23286897 Free PMC article.

4

Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.

Tzoulis C, Tran GT, Schwarzlmüller T, Specht K, Haugarvoll K, Balafkan N, Lilleng PK, Miletic H, Biermann M, Bindoff LA. Tzoulis C, et al. Brain. 2013 Aug;136(Pt 8):2393-404. doi: 10.1093/brain/awt103. Epub 2013 Apr 26. Brain. 2013. PMID: 23625061

5

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Tzoulis C, Johansson S, Haukanes BI, Boman H, Knappskog PM, Bindoff LA. Tzoulis C, et al. PLoS One. 2013 Jun 13;8(6):e66145. doi: 10.1371/journal.pone.0066145. Print 2013. PLoS One. 2013. PMID: 23785480 Free PMC article.

6

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.

Haugarvoll K, Tzoulis C, Tran GT, Karlsen B, Engelsen BA, Knappskog PM, Bindoff LA. Haugarvoll K, et al. Among authors: tzoulis c. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. J Neurol. 2014. PMID: 24297365

7

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia.

Tzoulis C, Zayats T, Knappskog PM, Müller B, Larsen JP, Tysnes OB, Bindoff LA, Johansson S, Haugarvoll K. Tzoulis C, et al. Proc Natl Acad Sci U S A. 2015 May 5;112(18):E2268. doi: 10.1073/pnas.1503105112. Epub 2015 Mar 30. Proc Natl Acad Sci U S A. 2015. PMID: 25825781 Free PMC article. No abstract available.

8

A woman in her 70s with chronic walking difficulties.

Flønes IH, Haugarvoll K, Sundal C, Tzoulis C. Flønes IH, et al. Among authors: tzoulis c. Tidsskr Nor Laegeforen. 2015 Oct 20;135(19):1753-5. doi: 10.4045/tidsskr.15.0111. eCollection 2015 Oct 20. Tidsskr Nor Laegeforen. 2015. PMID: 26486671 Free article. English, Norwegian. No abstract available.

9

Nigrostriatal denervation sine parkinsonism.

Haugarvoll K, Bindoff LA, Tzoulis C. Haugarvoll K, et al. Among authors: tzoulis c. Brain. 2016 Apr;139(Pt 4):e25. doi: 10.1093/brain/awv410. Epub 2016 Jan 25. Brain. 2016. PMID: 26811251 No abstract available.

10

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.

Flønes I, Sztromwasser P, Haugarvoll K, Dölle C, Lykouri M, Schwarzlmüller T, Jonassen I, Miletic H, Johansson S, Knappskog PM, Bindoff LA, Tzoulis C. Flønes I, et al. Among authors: tzoulis c. PLoS One. 2016 Feb 10;11(2):e0149055. doi: 10.1371/journal.pone.0149055. eCollection 2016. PLoS One. 2016. PMID: 26863430 Free PMC article.

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