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Items where Author is "Taylor, RW"

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Number of items: 10.

Article

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‚Äźonset 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

Poole, OV, Hardy, SA, Bugiardini, E, Woodward, CE, Hargreaves, IP, Merve, A, Quinlivan, R, Taylor, RW, Hanna, MG and Pitceathly, RDS (2020) Multisystem mitochondrial disease caused by a rare m.10038G>A mitochondrial tRNA Gly ( MT-TG ) variant. Neurology Genetics, 6 (2). ISSN 2376-7839

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

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

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

Lax, NZ, Alston, CL, Schon, K, Park, S-M, Krishnakumar, D, He, L, Falkous, G, Ogilvy-Stuart, A, Lees, C, King, RH, Hargreaves, IP, Brown, GK, McFarland, R, Dean, AF and Taylor, RW (2015) Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. Journal of Neuropathology and Experimental Neurology, 74 (7). pp. 688-703. ISSN 0022-3069

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

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

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

This list was generated on Sun Nov 28 07:54:16 2021 UTC.