Found: 8

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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

  • Metabolic effects of bezafibrate in mitochondrial disease.

    Published in:
    EMBO Molecular Medicine, 2020, v. 12, n. 3, p. 1, doi. 10.15252/emmm.201911589
    By:
    • Steele, Hannah;
    • Gomez‐Duran, Aurora;
    • Pyle, Angela;
    • Hopton, Sila;
    • Newman, Jane;
    • Stefanetti, Renae J;
    • Charman, Sarah J;
    • Parikh, Jehill D;
    • He, Langping;
    • Viscomi, Carlo;
    • Jakovljevic, Djordje G;
    • Hollingsworth, Kieren G;
    • Robinson, Alan J;
    • Taylor, Robert W;
    • Bottolo, Leonardo;
    • Horvath, Rita;
    • Chinnery, Patrick F
    Publication type:
    Article

  • A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

    Published in:
    Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 789, doi. 10.3390/jcm8060789
    By:
    • Zierz, Charlotte M.;
    • Baty, Karen;
    • Blakely, Emma L.;
    • Hopton, Sila;
    • Falkous, Gavin;
    • Schaefer, Andrew M.;
    • Hadjivassiliou, Marios;
    • Sarrigiannis, Ptolemaios G.;
    • Ng, Yi Shiau;
    • Taylor, Robert W.
    Publication type:
    Article

  • Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.

    Published in:
    JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
    By:
    • Charif, Majida;
    • Nasca, Alessia;
    • Thompson, Kyle;
    • Gerber, Sylvie;
    • Makowski, Christine;
    • Mazaheri, Neda;
    • Bris, Céline;
    • Goudenège, David;
    • Legati, Andrea;
    • Maroofian, Reza;
    • Shariati, Gholamreza;
    • Lamantea, Eleonora;
    • Hopton, Sila;
    • Ardissone, Anna;
    • Moroni, Isabella;
    • Giannotta, Melania;
    • Siegel, Corinna;
    • Strom, Tim M.;
    • Prokisch, Holger;
    • Vignal-Clermont, Catherine
    Publication type:
    Article

  • Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency.

    Published in:
    Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00024
    By:
    • Ng, Yi Shiau;
    • Thompson, Kyle;
    • Loher, Daniela;
    • Hopton, Sila;
    • Falkous, Gavin;
    • Hardy, Steven A.;
    • Schaefer, Andrew M.;
    • Shaunak, Sandip;
    • Roberts, Mark E.;
    • Lilleker, James B.;
    • Taylor, Robert W.
    Publication type:
    Article

  • Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

    Published in:
    Annals of Clinical & Translational Neurology, 2019, v. 6, n. 3, p. 515, doi. 10.1002/acn3.725
    By:
    • Hayhurst, Hannah;
    • de Coo, Irenaeus F. M.;
    • Piekutowska‐Abramczuk, Dorota;
    • Alston, Charlotte L.;
    • Sharma, Sunil;
    • Thompson, Kyle;
    • Rius, Rocio;
    • He, Langping;
    • Hopton, Sila;
    • Ploski, Rafal;
    • Ciara, Elzbieta;
    • Lake, Nicole J.;
    • Compton, Alison G.;
    • Delatycki, Martin B.;
    • Verrips, Aad;
    • Bonnen, Penelope E.;
    • Jones, Simon A.;
    • Morris, Andrew A.;
    • Shakespeare, David;
    • Christodoulou, John
    Publication type:
    Article

  • 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

  • Defective mitochondrial protease LonP1 can cause classical mitochondrial disease.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 10, p. 1743, doi. 10.1093/hmg/ddy080
    By:
    • Peter, Bradley;
    • Waddington, Christie L.;
    • 2, Monika Oláhová;
    • Sommerville, Ewen W.;
    • Hopton, Sila;
    • Pyle, Angela;
    • Champion, Michael;
    • Ohlson, Monica;
    • Siibak, Triinu;
    • Chrzanowska-Lightowlers, Zofia M. A.;
    • Taylor, Robert W.;
    • Falkenberg, Maria;
    • Lightowlers, Robert N.
    Publication type:
    Article