Bindoff LA - Search Results

1

Bindoff LA, Engelsen BA. Bindoff LA, et al. Epilepsia. 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x. Epilepsia. 2012. PMID: 22946726 Free article. Review.

2

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

3

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

4

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

5

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

6

Mitochondrial function and pathology in status epilepticus.

Bindoff LA. Bindoff LA. Epilepsia. 2011 Oct;52 Suppl 8:6-7. doi: 10.1111/j.1528-1167.2011.03223.x. Epilepsia. 2011. PMID: 21967349 Free article.

7

Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects.

Tzoulis C, Bindoff LA. Tzoulis C, et al. Among authors: bindoff la. Brain. 2012 Dec;135(Pt 12):3627-34. doi: 10.1093/brain/aws223. Epub 2012 Oct 12. Brain. 2012. PMID: 23065482

8

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. Among authors: bindoff la. J Neurol. 2014 Feb;261(2):358-62. doi: 10.1007/s00415-013-7203-9. Epub 2013 Dec 3. J Neurol. 2014. PMID: 24297365

9

Mitochondrial DNA homeostasis is essential for nigrostriatal integrity.

Tzoulis C, Schwarzlmüller T, Biermann M, Haugarvoll K, Bindoff LA. Tzoulis C, et al. Among authors: bindoff la. Mitochondrion. 2016 May;28:33-7. doi: 10.1016/j.mito.2016.03.003. Epub 2016 Mar 12. Mitochondrion. 2016. PMID: 26979109 Free article.

10

ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?

Hikmat O, Tzoulis C, Knappskog PM, Johansson S, Boman H, Sztromwasser P, Lien E, Brodtkorb E, Ghezzi D, Bindoff LA. Hikmat O, et al. Among authors: bindoff la. Eur J Neurol. 2016 Jul;23(7):1188-94. doi: 10.1111/ene.13003. Epub 2016 Apr 23. Eur J Neurol. 2016. PMID: 27106809

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