Search Results - Andrew M Schaefer

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  1. 1

    Changing faces of mitochondrial disease: autosomal recessive POLG disease mimicking myasthenia gravis and progressive supranuclear palsy by Naomi Warren, Andrew M Schaefer, Robert W Taylor, Emma L Blakely, Sila Hopton, Menatalla Elwan, Kate Craig, Gavin Falkous

    Published in BMJ Neurology Open (2022-12-01)
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  2. 2

    Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency by Yi Shiau Ng, Yi Shiau Ng, Kyle Thompson, Daniela Loher, Daniela Loher, Sila Hopton, Sila Hopton, Gavin Falkous, Gavin Falkous, Steven A. Hardy, Steven A. Hardy, Andrew M. Schaefer, Andrew M. Schaefer, Sandip Shaunak, Mark E. Roberts, James B. Lilleker, James B. Lilleker, Robert W. Taylor, Robert W. Taylor

    Published in Frontiers in Genetics (2020-02-01)
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  3. 3

    Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects by John P Bourke, Robert McFarland, John O'Sullivan, Yi Shiau Ng, Doug M Turnbull, Albert Zishen Lim, Daniel M Jones, Matthew G D Bates, Andrew M Schaefer, Catherine Feeney, Maria E Farrugia, Gráinne S Gorman

    Published in Open Heart (2021-02-01)
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  4. 4

    mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland

    Published in EMBO Molecular Medicine (2018-05-01)
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  5. 5

    Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

    Published in EMBO Molecular Medicine (2023-04-01)
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