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Melas associated with mutations in the polg1 gene.
Tzoulis C, Bindoff LA. Tzoulis C, et al. Among authors: bindoff la. 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.
MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA.
Taylor RW, Chinnery PF, Haldane F, Morris AA, Bindoff LA, Wilson J, Turnbull DM. Taylor RW, et al. Among authors: bindoff la. Ann Neurol. 1996 Sep;40(3):459-62. doi: 10.1002/ana.410400318. Ann Neurol. 1996. PMID: 8797538
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA. Winterthun S, et al. Among authors: bindoff la. Neurology. 2005 Apr 12;64(7):1204-8. doi: 10.1212/01.WNL.0000156516.77696.5A. Neurology. 2005. PMID: 15824347
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. Among authors: bindoff la. 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: bindoff la. 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: bindoff la. 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. Among authors: bindoff la. 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. Among authors: bindoff la. Brain. 2013 Aug;136(Pt 8):2393-404. doi: 10.1093/brain/awt103. Epub 2013 Apr 26. Brain. 2013. PMID: 23625061
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.
Liang KX, Kristiansen CK, Mostafavi S, Vatne GH, Zantingh GA, Kianian A, Tzoulis C, Høyland LE, Ziegler M, Perez RM, Furriol J, Zhang Z, Balafkan N, Hong Y, Siller R, Sullivan GJ, Bindoff LA. Liang KX, et al. Among authors: bindoff la. EMBO Mol Med. 2020 Aug 25;12(10):e12146. doi: 10.15252/emmm.202012146. Online ahead of print. EMBO Mol Med. 2020. PMID: 32840960 Free PMC article.
Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.
Johansen KK, Bindoff LA, Rydland J, Aasly JO. Johansen KK, et al. Among authors: bindoff la. Mov Disord. 2008 Aug 15;23(11):1624-6. doi: 10.1002/mds.22178. Mov Disord. 2008. PMID: 18581472 No abstract available.
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