Bindoff LA - Search Results

1

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. Among authors: bindoff la. J Neurol. 2012 Feb;259(2):292-6. doi: 10.1007/s00415-011-6176-9. Epub 2011 Jul 27. J Neurol. 2012. PMID: 21792730

2

Cystic dilation of Virchow-Robin spaces in the midbrain.

Romi F, Tysnes OB, Kråkenes J, Savoiardo M, Aarli JA, Bindoff L. Romi F, et al. Eur Neurol. 2002;47(3):186-8. doi: 10.1159/000047982. Eur Neurol. 2002. PMID: 11914561 No abstract available.

3

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

4

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

5

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.

6

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

7

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.

8

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

9

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.

10

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

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