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Melas associated with mutations in the polg1 gene.
Tzoulis C, Bindoff LA. Tzoulis C, et al. Neurology. 2008 Mar 25;70(13):1054; author reply 1054-5. doi: 10.1212/01.wnl.0000307661.98694.c3. Neurology. 2008. PMID: 18362288 No abstract available.
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.
Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, Ferrari G, Aarseth JH, Bindoff LA. Tzoulis C, et al. Brain. 2006 Jul;129(Pt 7):1685-92. doi: 10.1093/brain/awl097. Epub 2006 Apr 25. Brain. 2006. PMID: 16638794
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Engelsen BA, Tzoulis C, Karlsen B, Lillebø A, Laegreid LM, Aasly J, Zeviani M, Bindoff LA. Engelsen BA, et al. Among authors: tzoulis c. Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30. Brain. 2008. PMID: 18238797
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.
Gramstad A, Bindoff LA, Lillebø A, Tzoulis C, Engelsen BA. Gramstad A, et al. Among authors: tzoulis c. Epilepsy Behav. 2009 Sep;16(1):172-4. doi: 10.1016/j.yebeh.2009.01.014. Epub 2009 Jan 28. Epilepsy Behav. 2009. PMID: 19435586
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
Tzoulis C, Papingji M, Fiskestrand T, Røste LS, Bindoff LA. Tzoulis C, et al. Acta Neurol Scand Suppl. 2009;(189):38-41. doi: 10.1111/j.1600-0404.2009.01212.x. Acta Neurol Scand Suppl. 2009. PMID: 19566497
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
Using urine to diagnose large-scale mtDNA deletions in adult patients.
Varhaug KN, Nido GS, de Coo I, Isohanni P, Suomalainen A, Tzoulis C, Knappskog P, Bindoff LA. Varhaug KN, et al. Among authors: tzoulis c. Ann Clin Transl Neurol. 2020 Jul 7;7(8):1318-26. doi: 10.1002/acn3.51119. Online ahead of print. Ann Clin Transl Neurol. 2020. PMID: 32634300 Free PMC article.
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Tzoulis C, Neckelmann G, Mørk SJ, Engelsen BE, Viscomi C, Moen G, Ersland L, Zeviani M, Bindoff LA. Tzoulis C, et al. Brain. 2010 May;133(Pt 5):1428-37. doi: 10.1093/brain/awq067. Epub 2010 Apr 16. Brain. 2010. PMID: 20400524
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
Molecular pathogenesis of polymerase γ-related neurodegeneration.
Tzoulis C, Tran GT, Coxhead J, Bertelsen B, Lilleng PK, Balafkan N, Payne B, Miletic H, Chinnery PF, Bindoff LA. Tzoulis C, et al. Ann Neurol. 2014 Jul;76(1):66-81. doi: 10.1002/ana.24185. Epub 2014 Jun 14. Ann Neurol. 2014. PMID: 24841123 Free PMC article.
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