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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
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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
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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 Wed Apr 24 10:44:53 2024 BST.


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