Works matching AU Woodward, Cathy E.

Results: 10
    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

    COX10 Mutations Resulting in Complex Multisystem Mitochondrial Disease That Remains Stable Into Adulthood.

    Published in:
    JAMA Neurology, 2013, v. 70, n. 12, p. 1556, doi. 10.1001/jamaneurol.2013.3242
    By:
    • Pitceathly, Robert D. S.;
    • Taanman, Jan-Willem;
    • Rahman, Shamima;
    • Meunier, Brigitte;
    • Sadowski, Michael;
    • Cirak, Sebahattin;
    • Hargreaves, Iain;
    • Land, John M.;
    • Nanji, Tina;
    • Polke, James M.;
    • Woodward, Cathy E.;
    • Sweeney, Mary G.;
    • Solanki, Shyam;
    • Foley, A. Reghan;
    • Hurles, Matthew E.;
    • Stalker, Jim;
    • Blake, Julian;
    • Holton, Janice L.;
    • Phadke, Rahul;
    • Muntoni, Francesco
    Publication type:
    Article
    4
    5

    Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.

    Published in:
    Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32908-7
    By:
    • Macken, William L.;
    • Falabella, Micol;
    • McKittrick, Caroline;
    • Pizzamiglio, Chiara;
    • Ellmers, Rebecca;
    • Eggleton, Kelly;
    • Woodward, Cathy E.;
    • Patel, Yogen;
    • Labrum, Robyn;
    • Genomics England Research Consortium;
    • Ambrose, J. C.;
    • Arumugam, P.;
    • Bevers, R.;
    • Bleda, M.;
    • Boardman-Pretty, F.;
    • Boustred, C. R.;
    • Brittain, H.;
    • Brown, M. A.;
    • Caulfield, M. J.;
    • Chan, G. C.
    Publication type:
    Article
    6

    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
    7

    Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study.

    Published in:
    2019
    By:
    • Ng, Yi Shiau;
    • Martikainen, Mika H.;
    • Gorman, Gráinne S.;
    • Blain, Alasdair;
    • Bugiardini, Enrico;
    • Bunting, Apphia;
    • Schaefer, Andrew M.;
    • Alston, Charlotte L.;
    • Blakely, Emma L.;
    • Sharma, Sunil;
    • Hughes, Imelda;
    • Lim, Albert;
    • de Goede, Christian;
    • McEntagart, Meriel;
    • Spinty, Stefan;
    • Horrocks, Iain;
    • Roberts, Mark;
    • Woodward, Cathy E.;
    • Chinnery, Patrick F.;
    • Horvath, Rita
    Publication type:
    journal article
    8
    9

    Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 647, doi. 10.1093/brain/awae268
    By:
    • Falabella, Micol;
    • Pizzamiglio, Chiara;
    • Tabara, Luis Carlos;
    • Munro, Benjamin;
    • Abdel-Hamid, Mohamed S;
    • Sonmezler, Ece;
    • Macken, William L;
    • Lu, Shanti;
    • Tilokani, Lisa;
    • Flannery, Padraig J;
    • Patel, Nina;
    • Pope, Simon A S;
    • Heales, Simon J R;
    • Hammadi, Dania B H;
    • Alston, Charlotte L;
    • Taylor, Robert W;
    • Lochmuller, Hanns;
    • Woodward, Cathy E;
    • Labrum, Robyn;
    • Vandrovcova, Jana
    Publication type:
    Article
    10