Article

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

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