Items where Author is "Appleton, M"
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Cotta, A, Alston, CL, Baptista-Junior, S, Paim, JF, Carvalho, E, Navarro, MM, Appleton, M, Shiau Ng, Y, Valicek, J, da-Cunha-Junior, AL, Lima, MI, de la Rocque Ferreira, A, Takata, RI, Hargreaves, IP, Gorman, GS, McFarland, R, Pierre, G and Taylor, RW (2020) Early‐onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports. ISSN 2192-8312
Balreira, A, Boczonadi, V, Barca, E, Pyle, A, Bansagi, B, Appleton, M, Graham, C, Hargreaves, IP, Rasic, VM, Lochmueller, H, Griffin, H, Taylor, RW, Naini, A, Chinnery, PF, Hirano, M, Quinzii, CM and Horvath, R (2014) ANO10 mutations cause ataxia and coenzyme Q(10) deficiency. Journal of Neurology, 261 (11). pp. 2192-2198. ISSN 0340-5354