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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. Ann Neurol. 1996 Sep;40(3):459-62. doi: 10.1002/ana.410400318. Ann Neurol. 1996. PMID: 8797538
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.
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. 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. Brain. 2006 Jul;129(Pt 7):1685-92. doi: 10.1093/brain/awl097. Epub 2006 Apr 25. Brain. 2006. PMID: 16638794 Clinical Trial.
Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.
Bindoff LA, Mjellem N, Sommerfelt K, Krossnes BK, Roberts F, Krohn J, Tranheim RS, Haggerty ID. Bindoff LA, et al. Neuromuscul Disord. 2006 Oct;16(9-10):559-63. doi: 10.1016/j.nmd.2006.06.012. Epub 2006 Aug 28. Neuromuscul Disord. 2006. PMID: 16935506
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. Neurology. 2006 Dec 26;67(12):2262-3. doi: 10.1212/01.wnl.0000249184.09369.c2. Neurology. 2006. PMID: 17190963 No abstract available.
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.
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
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. 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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