Tzoulis C - Search Results

1

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

2

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

3

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.

4

Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.

Tzoulis C, Denora PS, Santorelli FM, Bindoff LA. Tzoulis C, et al. J Neurol. 2008 Aug;255(8):1142-4. doi: 10.1007/s00415-008-0858-y. Epub 2008 Jun 23. J Neurol. 2008. PMID: 18563470

5

Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.

Tzoulis C, Bindoff LA. Tzoulis C, et al. Stroke. 2009 Feb;40(2):e15-7. doi: 10.1161/STROKEAHA.108.523118. Epub 2008 Dec 18. Stroke. 2009. PMID: 19095975

6

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

7

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

8

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

Sanaker PS, Toompuu M, Hogan VE, He L, Tzoulis C, Chrzanowska-Lightowlers ZM, Taylor RW, Bindoff LA. Sanaker PS, et al. Among authors: tzoulis c. Biochim Biophys Acta. 2010 Jun;1802(6):539-44. doi: 10.1016/j.bbadis.2010.02.010. Epub 2010 Mar 4. Biochim Biophys Acta. 2010. PMID: 20206689 Free article.

9

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

10

Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene.

Tzoulis C, Tran GT, Gjerde IO, Aasly J, Neckelmann G, Rydland J, Varga V, Wadel-Andersen P, Bindoff LA. Tzoulis C, et al. J Neurol. 2012 Feb;259(2):292-6. doi: 10.1007/s00415-011-6176-9. Epub 2011 Jul 27. J Neurol. 2012. PMID: 21792730

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