Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Browse by All Cardiff Authors

[up] Up a level
Number of items: 4.

Clement, M. ORCID: https://orcid.org/0000-0002-9280-5281, Forbester, J. L., Marsden, M., Sabberwal, P., Sommerville, M. S., Wellington, D., Dimonte, S., Clare, S., Harcourt, K., Yin, Z., Nobre, L., Antrobus, R., Jin, B., Chen, M., Makvandi-Nejad, S., Lindborg, J. A., Strittmatter, S. M., Weekes, M. P., Stanton, R. J. ORCID: https://orcid.org/0000-0002-6799-1182, Dong, T. and Humphreys, I. R. ORCID: https://orcid.org/0000-0002-9512-5337 2022. IFITM3 restricts virus-induced inflammatory cytokine production by limiting Nogo-B mediated TLR responses. Nature Communications 13 (1) , 5294. 10.1038/s41467-022-32587-4
filefile

Keshavan, Nandaki, Abdenur, Jose, Anderson, Glenn, Assouline, Zahra, Barcia, Giulia, Bouhikbar, Lamia, Chakrapani, Anupam, Cleary, Maureen, Cohen, Marta C., Feillet, François, Fratter, Carl, Hauser, Natalie, Jacques, Tom, Lam, Amanda, McCullagh, Helen, Phadke, Rahul, Rötig, Agnès, Sharrard, Mark, Simon, Mariella, Smith, Conrad, Sommerville, Ewen W., Taylor, Robert W., Yue, Wyatt W. and Rahman, Shamima 2020. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine 22 , pp. 199-209. 10.1038/s41436-019-0613-z
file

Sommerville, Ewen W., Ng, Yi Shiau, Alston, Charlotte L., Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L., Schaefer, Andrew M., Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A., Rawles, John M., Dean, John C. S., Petty, Richard K., Farrugia, Maria E., Haack, Tobias B., Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M., Donnini, Claudia, Taylor, Robert W. and Gorman, Gráinne S. 2017. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 74 (6) , pp. 686-694. 10.1001/jamaneurol.2016.4357

Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen, Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal and Prokisch, Holger 2014. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. American Journal of Human Genetics 95 (6) , pp. 708-720. 10.1016/j.ajhg.2014.10.017

This list was generated on Tue Apr 15 08:41:23 2025 BST.


Maintained by Cardiff University Information Services