Bindoff LA - Search Results

1

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

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

Unusual features in a boy with the rapsyn N88K mutation.

Skeie GO, Aurlien H, Müller JS, Lochmüller H, Norgârd G, Bindoff LA. Skeie GO, et al. Among authors: bindoff la. Neurology. 2006 Dec 26;67(12):2262-3. doi: 10.1212/01.wnl.0000249184.09369.c2. Neurology. 2006. PMID: 17190963 No abstract available.

5

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

6

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.

7

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. Among authors: bindoff la. J Neurol. 2008 Aug;255(8):1142-4. doi: 10.1007/s00415-008-0858-y. Epub 2008 Jun 23. J Neurol. 2008. PMID: 18563470

8

A novel Refsum-like disorder that maps to chromosome 20.

Fiskerstrand T, Knappskog P, Majewski J, Wanders RJ, Boman H, Bindoff LA. Fiskerstrand T, et al. Among authors: bindoff la. Neurology. 2009 Jan 6;72(1):20-7. doi: 10.1212/01.wnl.0000333664.90605.23. Epub 2008 Nov 12. Neurology. 2009. PMID: 19005174

9

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

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

10

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

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