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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 Clinical Trial.
The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. ...
The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heter …
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. Brain. 2008 Mar;131(Pt 3):818-28. doi: 10.1093/brain/awn007. Epub 2008 Jan 30. Brain. 2008. PMID: 18238797 Clinical Trial.
The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. ...
The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for …
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
We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and l …
We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first de …
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. 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
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. 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
The g.7044G>C ISCU mutation induces a splicing error in the pre-mRNA that strengthens a weak intronic splice site leading to inclusion of a new exon and subsequent loss of mRNA and protein. ...We confirmed that, in the presence of the g.7044G>C mutation, splic …
The g.7044G>C ISCU mutation induces a splicing error in the pre-mRNA that strengthens a weak intronic splice site leading to inclu …
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
One form of chronic polymerase gamma-encephalopathy, that is associated with the c.1399G > A and c.2243G > C mutations, is characterized by progressive cerebral and cerebellar atrophy and focal lesions of the thalamus, deep cerebellar structures and med …
One form of chronic polymerase gamma-encephalopathy, that is associated with the c.1399G > A and c.2243G > C muta …
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