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Nigrostriatal denervation sine parkinsonism.
Haugarvoll K, Bindoff LA, Tzoulis C. Haugarvoll K, et al. Brain. 2016 Apr;139(Pt 4):e25. doi: 10.1093/brain/awv410. Epub 2016 Jan 25. Brain. 2016. PMID: 26811251 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 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 …
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 …
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
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
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
Tzoulis C, Vedeler C, Haugen M, Storstein A, Tran GT, Gjerde IO, Biermann M, Schwarzlmüller T, Bindoff LA. Tzoulis C, et al. BMC Neurol. 2013 May 31;13:55. doi: 10.1186/1471-2377-13-55. BMC Neurol. 2013. PMID: 23725534 Free PMC article.
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. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. J Neurol. 2014. PMID: 24297365
Sequencing of the SGCE gene in the proband identified a novel frameshift c.372delG mutation that predicts the amino acid change [p.Lys125SerfsX7] and the formation of a premature stop codon. ...
Sequencing of the SGCE gene in the proband identified a novel frameshift c.372delG mutation that predicts the amino acid change [p.Ly …
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