Showing 1 - 3 results of 3 for search 'Charlotte L Alston', query time: 0.01s Refine Results
  1. 1
    Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death

    Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death by Hannah Gillespie, Yi Shiau Ng, Katrina M. Wood, Sila Hopton, Charlotte L. Alston, Emma L. Blakely, Nick Thompson, Robert W. Taylor, Andrew C. Browning, Robert McFarland, John A. Sayer

    Published 2025-08-01
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  2. 2
    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I

    Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

    Published 2020-09-01
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  3. 3
    mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

    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 2018-05-01
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