Items where Author is "Olahova, M"
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Ahmed, ST, Alston, CL, Hopton, S, He, L, Hargreaves, IP, Falkous, G, Olahova, M, McFarland, R, Turnbull, DM, Rocha, MC and Taylor, RW (2017) Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Scientific Reports, 7. ISSN 2045-2322
Alston, CL, Howard, C, Olahova, M, Hardy, SA, He, L, Murray, PG, O'Sullivan, S, Doherty, G, Shield, JPH, Hargreaves, IP, Monavari, AA, Knerr, I, McCarthy, P, Morris, AAM, Thorburn, DR, Prokisch, H, Clayton, PE, McFarland, R, Hughes, J, Crushell, E and Taylor, RW (2016) A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype. Journal of Medical Genetics (JMG), 53 (9). pp. 634-641. ISSN 0022-2593
Alston, CL, Ceccatelli Berti, C, Blakely, EL, Olahova, M, He, L, McMahon, CJ, Olpin, SE, Hargreaves, IP, Nolli, C, McFarland, R, Goffrini, P, O'Sullivan, MJ and Taylor, RW (2015) A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. Human Genetics, 134 (8). pp. 869-879. ISSN 0340-6717