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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
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 W., 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, Prokisch, Holger
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Obesity-Induced Platelet Mitofusin-1 Expression Causes Vascular Dysfunction
Annarapu, Gowtham K, Taiclet, Stefanie, Hahn, Scott, Nolfi-Donegan, Deirdre, Jurczak, Michael, Straub, Adam C, Shiva, Sruti
Published in Blood (02.11.2023)
Published in Blood (02.11.2023)
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