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  • Please visit the Pure Research Information Portal for further information
  • Mitochondrial signalling and homeostasis: from cell biology to neurological disease, Collier, J., Oláhová, M., McWilliams, T., Taylor, R. 1 Feb 2023, In: Trends in Neurosciences
  • Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54, Smith, T., Rea, A., Thomas, H., Thompson, K., Oláhová, M., Maroofian, R., Zamani, M., He, L., Sadeghian, S., Galehdari, H., Lotan, N., Gilboa, T., Herman, K., McCorvie, T., Yue, W., Houlden, H., Taylor, R., Newman, W., O’Keefe, R. 1 Oct 2023, In: European Journal of Human Genetics
  • A Novel Homozygous Founder Variant of RTN4IP1 in Two Consanguineous Saudi Families, Aldosary, M., Alsagob, M., AlQudairy, H., González-Álvarez, A., Arold, S., Dababo, M., Alharbi, O., Almass, R., AlBakheet, A., AlSarar, D., Qari, A., Al-Ansari, M., Oláhová, M., Al-Shahrani, S., AlSayed, M., Colak, D., Taylor, R., AlOwain, M., Kaya, N. 7 Oct 2022, In: Cells
  • Novel <i>DNM1L</i> variants impair mitochondrial dynamics through divergent mechanisms, Nolden, K., Egner, J., Collier, J., Russell, O., Alston, C., Harwig, M., Widlansky, M., Sasorith, S., Barbosa, I., Douglas, A., Baptista, J., Walker, M., Donnelly, D., Morris, A., Tan, H., Kurian, M., Gorman, K., Mordekar, S., Deshpande, C., Samanta, R., McFarland, R., Hill, R., Taylor, R., Oláhová, M. 1 Dec 2022, In: Life Science Alliance
  • ATG7 safeguards human neural integrity, Collier, J., Oláhová, M., McWilliams, T., Taylor, R. 2 Sep 2021, In: Autophagy
  • Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans, Collier, J., Guissart, C., Oláhová, M., Sasorith, S., Piron-Prunier, F., Suomi, F., Zhang, D., Martinez-Lopez, N., Leboucq, N., Bahr, A., Azzarello-Burri, S., Reich, S., Schöls, L., Polvikoski, T., Meyer, P., Larrieu, L., Schaefer, A., Alsaif, H., Alyamani, S., Zuchner, S., Barbosa, I., Deshpande, C., Pyle, A., Rauch, A., Synofzik, M., Alkuraya, F., Rivier, F., Ryten, M., McFarland, R., Delahodde, A., McWilliams, T., Koenig, M., Taylor, R. 24 Jun 2021, In: New England Journal of Medicine
  • Emerging roles of ATG7 in human health and disease, Collier, J., Suomi, F., Oláhová, M., McWilliams, T., Taylor, R. 7 Dec 2021, In: EMBO Molecular Medicine
  • Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing, Tang, J., Pyle, A., Taylor, R., Oláhová, M. 12 Oct 2021, In: Genes
  • POLRMT mutations impair mitochondrial transcription causing neurological disease, Oláhová, M., Peter, B., Szilagyi, Z., Diaz-Maldonado, H., Singh, M., Sommerville, E., Blakely, E., Collier, J., Hoberg, E., Stránecký, V., Hartmannová, H., Bleyer, A., McBride, K., Bowden, S., Korandová, Z., Pecinová, A., Ropers, H., Kahrizi, K., Najmabadi, H., Tarnopolsky, M., Brady, L., Weaver, K., Prada, C., Õunap, K., Wojcik, M., Pajusalu, S., Syeda, S., Pais, L., Estrella, E., Bruels, C., Kunkel, L., Kang, P., Bonnen, P., Mráček, T., Kmoch, S., Gorman, G., Falkenberg, M., Gustafsson, C., Taylor, R. 18 Feb 2021, In: Nature Communications

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