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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.
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.
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance.
Downham E, Winterthun S, Nakkestad HL, Hirth A, Halvorsen T, Taylor RW, Bindoff LA. Downham E, et al. Neuromuscul Disord. 2008 Apr;18(4):310-4. doi: 10.1016/j.nmd.2008.01.003. Neuromuscul Disord. 2008. PMID: 18396045
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
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. 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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