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Number of items: 3.

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 2019. The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. Genetics in Medicine , -. 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 Sun Nov 17 05:20:24 2019 GMT.