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Page 1
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Pyle A, Smertenko T, Bargiela D, Griffin H, Duff J, Appleton M, Douroudis K, Pfeffer G, Santibanez-Koref M, Eglon G, Yu-Wai-Man P, Ramesh V, Horvath R, Chinnery PF. Pyle A, et al. Among authors: appleton m. Brain. 2015 Feb;138(Pt 2):276-83. doi: 10.1093/brain/awu348. Epub 2014 Dec 12. Brain. 2015. PMID: 25497598 Free PMC article.
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Balreira A, Boczonadi V, Barca E, Pyle A, Bansagi B, Appleton M, Graham C, Hargreaves IP, Rasic VM, Lochmüller H, Griffin H, Taylor RW, Naini A, Chinnery PF, Hirano M, Quinzii CM, Horvath R. Balreira A, et al. Among authors: appleton m. J Neurol. 2014 Nov;261(11):2192-8. doi: 10.1007/s00415-014-7476-7. Epub 2014 Sep 3. J Neurol. 2014. PMID: 25182700 Free PMC article.
Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion.
Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Cotta A, et al. Among authors: appleton m. JIMD Rep. 2020 Jun 2;54(1):45-53. doi: 10.1002/jmd2.12107. eCollection 2020 Jul. JIMD Rep. 2020. PMID: 32685350 Free PMC article.
Pirates of the Caribbean (and Elsewhere): Three-Legged Lizards and the Study of Evolutionary Adaptation.
Stroud JT, Kolbe JJ, Doshna B, Anderson CV, French SS, Miles DB, Zani PA, Suh JJ, Passos DC, Roberts TJ, Whiting MJ, Cusick K, Aja M, Appleton M, Arnashus A, Arnold DS, Bastiaans E, Barnett K, Boronow KE, Brisson JA, Calder D, Clay S, Clobert J, Connior MB, Cooper TL, Castañeda MDR, Dufour CMS, Gamble T, Geneva AJ, Gray LN, Griffin K, Hall JM, Herrmann NC, Hillen B, Johnson LE, Kamath A, Langkilde T, Langner C, Lapiedra O, Leal M, Maayan I, Massot M, Miller AH, Muñoz MM, Norval G, Perkins SL, Pike DA, Schoener TW, Templeton AR, Vazquez E, Walker A, Losos JB. Stroud JT, et al. Among authors: appleton m. Am Nat. 2025 Nov;206(5):403-417. doi: 10.1086/737525. Epub 2025 Oct 13. Am Nat. 2025. PMID: 41172336
94 results