Items where Author is "Poulton, J"
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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 , 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
McKiernan, P, Ball, S, Santra, S, Foster, K, Fratter, C, Poulton, J, Craig, K, McFarland, R, Rahman, S, Hargreaves, IP, Gupte, G, Sharif, K and Taylor, RW (2016) Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. Journal of Pediatric Gastroenterology and Nutrition, 63 (6). pp. 592-597. ISSN 0277-2116
Dombi, E, Diot, A, Morten, K, Carver, J, Lodge, T, Fratter, C, Ng, YS, Liao, C, Muir, R, Blakely, EL, Hargreaves, IP, Al-Dosary, M, Sarkar, G, Hickman, SJ, Downes, SM, Jayawant, S, Yu-Wai-Man, P, Taylor, RW and Poulton, J (2016) The m.13051G > A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology, 86 (20). pp. 1921-1923. ISSN 0028-3878
Uusimaa, J, Evans, J, Smith, C, Butterworth, A, Craig, K, Ashley, N, Liao, C, Carver, J, Diot, A, Macleod, L, Hargreaves, IP, Al-Hussaini, A, Faqeih, E, Asery, A, Al Balwi, M, Eyaid, W, Al-Sunaid, A, Kelly, D, van Mourik, I, Ball, S , Jarvis, J, Mulay, A, Hadzic, N, Samyn, M, Baker, A, Rahman, S, Stewart, H, Morris, AAM, Seller, A, Fratter, C, Taylor, RW and Poulton, J (2013) Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. European Journal of Human Genetics, 22 (2). pp. 184-191. ISSN 1018-4813