The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.

by Dombi, Eszter, Diot, Alan, Morten, Karl, Carver, Janet, Lodge, Tiffany, Fratter, Carl, Ng, Yi Shiau, Liao, Chunyan, Muir, Rebecca, Blakely, Emma L, Hargreaves, Iain, Al-Dosary, Mazhor, Sarkar, Gopa, Hickman, Simon J, Downes, Susan M, Jayawant, Sandeep, Yu-Wai-Man, Patrick, Taylor, Robert W, Poulton, Joanna
Published 2018

Retrospective natural history of thymidine kinase 2 deficiency.

by Garone, Caterina, Taylor, Robert W, Nascimento, Andrés, Poulton, Joanna, Fratter, Carl, Domínguez-González, Cristina, Evans, Julie C, Loos, Mariana, Isohanni, Pirjo, Suomalainen, Anu, Ram, Dipak, Hughes, M Imelda, McFarland, Robert, Barca, Emanuele, Lopez Gomez, Carlos, Jayawant, Sandeep, Thomas, Neil D, Manzur, Adnan Y, Kleinsteuber, Karin, Martin, Miguel A, Kerr, Timothy, Gorman, Grainne S, Sommerville, Ewen W, Chinnery, Patrick F, Hofer, Monika, Karch, Christoph, Ralph, Jeffrey, Cámara, Yolanda, Madruga-Garrido, Marcos, Domínguez-Carral, Jana, Ortez, Carlos, Emperador, Sonia, Montoya, Julio, Chakrapani, Anupam, Kriger, Joshua F, Schoenaker, Robert, Levin, Bruce, Thompson, John LP, Long, Yuelin, Rahman, Shamima, Donati, Maria Alice, DiMauro, Salvatore, Hirano, Michio
Published 2019