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What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?
Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R. Neeve VC, et al. Among authors: gorman gg. Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298. Brain. 2012. PMID: 23250882 Free PMC article.
Fragile X premutation presenting as essential tremor.
Gorman G, Fairgrieve S, Birchall D, Chinnery PF. Gorman G, et al. J Neurol Neurosurg Psychiatry. 2008 Oct;79(10):1195-6. doi: 10.1136/jnnp.2008.148379. J Neurol Neurosurg Psychiatry. 2008. PMID: 18796598 No abstract available.
The minimum prevalence of CADASIL in northeast England.
Narayan SK, Gorman G, Kalaria RN, Ford GA, Chinnery PF. Narayan SK, et al. Neurology. 2012 Mar 27;78(13):1025-7. doi: 10.1212/WNL.0b013e31824d586c. Epub 2012 Mar 14. Neurology. 2012. PMID: 22422895 Free PMC article. No abstract available.
29 results