Works matching AU Poole, Olivia V.

Results: 4
    1

    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 10, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
    2

    Utility of Whole Blood Thiamine Pyrophosphate Evaluation in TPK1-Related Diseases.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 7, p. 991, doi. 10.3390/jcm8070991
    By:
    • Bugiardini, Enrico;
    • Pope, Simon;
    • Feichtinger, René G.;
    • Poole, Olivia V.;
    • Pittman, Alan M.;
    • Woodward, Cathy E.;
    • Heales, Simon;
    • Quinlivan, Rosaline;
    • Houlden, Henry;
    • Mayr, Johannes A.;
    • Hanna, Michael G.;
    • Pitceathly, Robert D.S.
    Publication type:
    Article
    3

    MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 16, p. 2711, doi. 10.1093/hmg/ddz093
    By:
    • Bugiardini, Enrico;
    • Mitchell, Alice L;
    • Rosa, Ilaria Dalla;
    • Horning-Do, Hue-Tran;
    • Pitmann, Alan M;
    • Poole, Olivia V;
    • Holton, Janice L;
    • Shah, Sachit;
    • Woodward, Cathy;
    • Hargreaves, Iain;
    • Quinlivan, Rosaline;
    • Amunts, Alexey;
    • Wiesner, Rudolf J;
    • Houlden, Henry;
    • Holt, Ian J;
    • Hanna, Michael G;
    • Pitceathly, Robert D S;
    • Spinazzola, Antonella
    Publication type:
    Article
    4

    Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases.

    Published in:
    2021
    By:
    • Poole, Olivia V.;
    • Pizzamiglio, Chiara;
    • Murphy, David;
    • Falabella, Micol;
    • Macken, William L.;
    • Bugiardini, Enrico;
    • Woodward, Cathy E.;
    • Labrum, Robyn;
    • Efthymiou, Stephanie;
    • Salpietro, Vincenzo;
    • Chelban, Viorica;
    • Kaiyrzhanov, Rauan;
    • Maroofian, Reza;
    • Amato, Anthony A.;
    • Gregory, Allison;
    • Hayflick, Susan J.;
    • Jonvik, Hallgeir;
    • Wood, Nicholas;
    • Houlden, Henry;
    • Vandrovcova, Jana
    Publication type:
    journal article