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Bugiardin, E, Bottani, E, Marchet, S, Poole, OV, Beninca, C, Horga, A, Woodward, C, Lam, A, Hargreaves, IP, Chalasani, A, Valerio, A, Lamantea, E, Venner, K, Holton, JL, Zeviani, M, Houlden, H, Quinlivan, R, Lamperti, C, Hanna, MG and Pitceathly, RDS (2020) Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations. Neurology Genetics, 6 (1). ISSN 2376-7839

Horga, A, Woodward, CE, Mills, A, Pareés, I, Hargreaves, IP, Brown, RM, Bugiardini, E, Brooks, T, Manole, A, Remzova, E, Rahman, S, Reilly, MM, Houlden, H, Sweeney, MG, Brown, GK, Polke, JM, Gago, F, Parton, MJ, Pitceathly, RDS and Hanna, MG (2019) Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair. Human Genetics, 138 (11-12). pp. 1313-1322. ISSN 0340-6717

Bugiardini, E, Mitchell, AL, Rosa, ID, Horning-Do, H-T, Pitmann, AM, Poole, OV, Holton, JL, Shah, S, Woodward, C, Hargreaves, IP, Quinlivan, R, Amunts, A, Wiesner, RJ, Houlden, H, Holt, IJ, Hanna, MG, Pitceathly, RDS and Spinazzola, A (2019) MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy. Human Molecular Genetics. ISSN 0964-6906

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Bugiardini, E, Poole, OV, Manole, A, Pittman, AM, Horga, A, Hargreaves, IP, Woodward, CE, Sweeney, MG, Holton, JL, Taanman, J-W, Plant, GT, Poulton, J, Zeviani, M, Ghezzi, D, Taylor, J, Smith, C, Fratter, C, Kanikannan, MA, Paramasivam, A, Thangaraj, K et al, Spinazzola, A, Holt, IJ, Houlden, H, Hanna, MG and Pitceathly, RD (2017) Clinicopathologic and molecular spectrum of RNASEH1 -related mitochondrial disease. Neurology Genetics, 3 (3). ISSN 2376-7839