Works matching AU Poulton, Joanna


Results: 51
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    Metabolic rescue in pluripotent cells from patients with mtDNA disease.

    Published in:
    Nature, 2015, v. 524, n. 7564, p. 234, doi. 10.1038/nature14546
    By:
    • Ma, Hong;
    • Folmes, Clifford D. L.;
    • Wu, Jun;
    • Morey, Robert;
    • Mora-Castilla, Sergio;
    • Ocampo, Alejandro;
    • Ma, Li;
    • Poulton, Joanna;
    • Wang, Xinjian;
    • Ahmed, Riffat;
    • Kang, Eunju;
    • Lee, Yeonmi;
    • Hayama, Tomonari;
    • Li, Ying;
    • Van Dyken, Crystal;
    • Gutierrez, Nuria Marti;
    • Tippner-Hedges, Rebecca;
    • Koski, Amy;
    • Mitalipov, Nargiz;
    • Amato, Paula
    Publication type:
    Article
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    Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2022, v. 31, n. 12, p. 2049, doi. 10.1093/hmg/ddac002
    By:
    • Schober, Florian A;
    • Tang, Jia Xin;
    • Sergeant, Kate;
    • Moedas, Marco F;
    • Zierz, Charlotte M;
    • Moore, David;
    • Smith, Conrad;
    • Lewis, David;
    • Guha, Nishan;
    • Hopton, Sila;
    • Falkous, Gavin;
    • Lam, Amanda;
    • Pyle, Angela;
    • Poulton, Joanna;
    • Gorman, Gráinne S;
    • Taylor, Robert W;
    • Freyer, Christoph;
    • Wredenberg, Anna
    Publication type:
    Article
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    A national perspective on prenatal testing for mitochondrial disease.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1255, doi. 10.1038/ejhg.2014.35
    By:
    • Nesbitt, Victoria;
    • Alston, Charlotte L;
    • Blakely, Emma L;
    • Fratter, Carl;
    • Feeney, Catherine L;
    • Poulton, Joanna;
    • Brown, Garry K;
    • Turnbull, Doug M;
    • Taylor, Robert W;
    • McFarland, Robert
    Publication type:
    Article
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    Pathogenic Mitochondrial t RNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease.

    Published in:
    Human Mutation, 2013, v. 34, n. 9, p. 1260, doi. 10.1002/humu.22358
    By:
    • Blakely, Emma L.;
    • Yarham, John W.;
    • Alston, Charlotte L.;
    • Craig, Kate;
    • Poulton, Joanna;
    • Brierley, Charlotte;
    • Park, Soo‐Mi;
    • Dean, Andrew;
    • Xuereb, John H.;
    • Anderson, Kirstie N.;
    • Compston, Alistair;
    • Allen, Chris;
    • Sharif, Saba;
    • Enevoldson, Peter;
    • Wilson, Martin;
    • Hammans, Simon R.;
    • Turnbull, Douglass M.;
    • McFarland, Robert;
    • Taylor, Robert W.
    Publication type:
    Article
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    Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.

    Published in:
    Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
    By:
    • Haack, Tobias B.;
    • Danhauser, Katharina;
    • Haberberger, Birgit;
    • Hoser, Jonathan;
    • Strecker, Valentina;
    • Boehm, Detlef;
    • Uziel, Graziella;
    • Lamantea, Eleonora;
    • Invernizzi, Federica;
    • Poulton, Joanna;
    • Rolinski, Boris;
    • Iuso, Arcangela;
    • Biskup, Saskia;
    • Schmidt, Thorsten;
    • Mewes, Hans-Werner;
    • Wittig, Ilka;
    • Meitinger, Thomas;
    • Zeviani, Massimo;
    • Prokisch, Holger
    Publication type:
    Article
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    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Published in:
    2018
    By:
    • Repp, Birgit M.;
    • Mastantuono, Elisa;
    • Alston, Charlotte L.;
    • Schiff, Manuel;
    • Haack, Tobias B.;
    • Rötig, Agnes;
    • Ardissone, Anna;
    • Lombès, Anne;
    • Catarino, Claudia B.;
    • Diodato, Daria;
    • Schottmann, Gudrun;
    • Poulton, Joanna;
    • Burlina, Alberto;
    • Jonckheere, An;
    • Munnich, Arnold;
    • Rolinski, Boris;
    • Ghezzi, Daniele;
    • Rokicki, Dariusz;
    • Wellesley, Diana;
    • Martinelli, Diego
    Publication type:
    journal article
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    Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.

    Published in:
    EMBO Journal, 2020, v. 39, n. 23, p. 1, doi. 10.15252/embj.2020105364
    By:
    • Hathazi, Denisa;
    • Griffin, Helen;
    • Jennings, Matthew J;
    • Giunta, Michele;
    • Powell, Christopher;
    • Pearce, Sarah F;
    • Munro, Benjamin;
    • Wei, Wei;
    • Boczonadi, Veronika;
    • Poulton, Joanna;
    • Pyle, Angela;
    • Calabrese, Claudia;
    • Gomez‐Duran, Aurora;
    • Schara, Ulrike;
    • Pitceathly, Robert D S;
    • Hanna, Michael G;
    • Joost, Kairit;
    • Cotta, Ana;
    • Paim, Julia Filardi;
    • Navarro, Monica Machado
    Publication type:
    Article
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    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability.

    Published in:
    EMBO Molecular Medicine, 2023, v. 15, n. 5, p. 1, doi. 10.15252/emmm.202216775
    By:
    • Erdinc, Direnis;
    • Rodríguez‐Luis, Alejandro;
    • Fassad, Mahmoud R;
    • Mackenzie, Sarah;
    • Watson, Christopher M;
    • Valenzuela, Sebastian;
    • Xie, Xie;
    • Menger, Katja E;
    • Sergeant, Kate;
    • Craig, Kate;
    • Hopton, Sila;
    • Falkous, Gavin;
    • Poulton, Joanna;
    • Garcia‐Moreno, Hector;
    • Giunti, Paola;
    • de Moura Aschoff, Carlos A;
    • Morales Saute, Jonas A;
    • Kirby, Amelia J;
    • Toro, Camilo;
    • Wolfe, Lynne
    Publication type:
    Article
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    The dangers of extended PCR in the clinic.

    Published in:
    Nature Medicine, 1999, v. 5, n. 9, p. 965, doi. 10.1038/12379
    By:
    • Kajander, Olli A.;
    • Poulton, Joanna;
    • Spelbrink, Johannes N.;
    • Rovio, Anja;
    • Karhunen, Pekka J.;
    • Jacobs, Howard T.
    Publication type:
    Article
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    MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

    Published in:
    PLoS Genetics, 2016, v. 12, n. 1, p. 1, doi. 10.1371/journal.pgen.1005779
    By:
    • Dalla Rosa, Ilaria;
    • Cámara, Yolanda;
    • Durigon, Romina;
    • Moss, Chloe F.;
    • Vidoni, Sara;
    • Akman, Gokhan;
    • Hunt, Lilian;
    • Johnson, Mark A.;
    • Grocott, Sarah;
    • Wang, Liya;
    • Thorburn, David R.;
    • Hirano, Michio;
    • Poulton, Joanna;
    • Taylor, Robert W.;
    • Elgar, Greg;
    • Martí, Ramon;
    • Voshol, Peter;
    • Holt, Ian J.;
    • Spinazzola, Antonella
    Publication type:
    Article
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