Poulton J - Search Results

1

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

Naviaux RK, Nyhan WL, Barshop BA, Poulton J, Markusic D, Karpinski NC, Haas RH. Naviaux RK, et al. Among authors: poulton j. Ann Neurol. 1999 Jan;45(1):54-8. doi: 10.1002/1531-8249(199901)45:1<54::aid-art10>3.0.co;2-b. Ann Neurol. 1999. PMID: 9894877

2

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J. Ashley N, et al. Among authors: poulton j. Hum Mol Genet. 2007 Jun 15;16(12):1400-11. doi: 10.1093/hmg/ddm090. Epub 2007 May 3. Hum Mol Genet. 2007. PMID: 17483096

3

Diagnosis of mitochondrial DNA depletion syndromes.

Rahman S, Poulton J. Rahman S, et al. Among authors: poulton j. Arch Dis Child. 2009 Jan;94(1):3-5. doi: 10.1136/adc.2008.147983. Arch Dis Child. 2009. PMID: 19103785 No abstract available.

4

Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study.

Rahman S, Poulton J, Marchington D, Suomalainen A. Rahman S, et al. Among authors: poulton j. Am J Hum Genet. 2001 Jan;68(1):238-40. doi: 10.1086/316930. Epub 2000 Nov 20. Am J Hum Genet. 2001. PMID: 11085913 Free PMC article.

5

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW. McKiernan P, et al. Among authors: poulton j. J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):592-597. doi: 10.1097/MPG.0000000000001345. J Pediatr Gastroenterol Nutr. 2016. PMID: 27482763 Free PMC article.

6

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J. Ashley N, et al. Among authors: poulton j. Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16. Hum Mol Genet. 2008. PMID: 18487244 Free PMC article.

7

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M. Garone C, et al. Among authors: poulton j. J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30. J Med Genet. 2018. PMID: 29602790 Free PMC article.

8

Forecasting stroke-like episodes and outcomes in mitochondrial disease.

Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Ng YS, et al. Among authors: poulton j. Brain. 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. Brain. 2022. PMID: 34927673 Free PMC article.

9

Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome.

Poulton J, Sewry C, Potter CG, Bougeron T, Chretien D, Wijburg FA, Morten KJ, Brown G. Poulton J, et al. J Inherit Metab Dis. 1995;18(1):4-20. doi: 10.1007/BF00711367. J Inherit Metab Dis. 1995. PMID: 7623440

10

Noninvasive diagnosis of the MELAS syndrome from blood DNA.

Poulton J, Morten K. Poulton J, et al. Ann Neurol. 1993 Jul;34(1):116. doi: 10.1002/ana.410340124. Ann Neurol. 1993. PMID: 8517674 No abstract available.

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