Christodoulou, John
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Van Haute, Lindsey ORCID: 0000-0001-7809-1473, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran
ORCID: 0000-0002-8879-6001, Hock, Daniella H
ORCID: 0000-0002-6940-4420, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak
ORCID: 0000-0002-4106-409X, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola
ORCID: 0000-0002-6895-8819, Cappuccio, Gerarda, Caruana, Nikeisha
ORCID: 0000-0002-0817-1686, Dominik, Natalia, Goel, Himanshu, Helman, Guy
ORCID: 0000-0002-4784-7423, Houlden, Henry
ORCID: 0000-0002-2866-7777, Lenaers, Guy
ORCID: 0000-0003-2736-3349, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio
ORCID: 0000-0002-9871-3126, Rebelo-Guiomar, Pedro
ORCID: 0000-0002-5060-7519, Simons, Cas
ORCID: 0000-0003-3147-8042, Vengalil, Seena
ORCID: 0000-0002-0629-9221, Zaki, Maha S
ORCID: 0000-0001-7840-0002, Ziegler, Alban, Thorburn, David
ORCID: 0000-0002-7725-9470, Stroud, David A
ORCID: 0000-0002-2048-3383, Maroofian, Reza, Christodoulou, John
ORCID: 0000-0002-8431-0641, Gustafsson, Claes
ORCID: 0000-0003-3531-8468, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal
ORCID: 0000-0001-8242-1420 and Horvath, Rita
ORCID: 0000-0002-9841-170X
(2023)
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.
Nature Communications, 14.
ISSN 2041-1723
Van Bergen, Nicole J, Hock, Daniella H, Spencer, Lucy, Massey, Massey, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Fevre, Anna Le, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M, D’arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha ORCID: 0000-0002-0817-1686, Thorburn, David R, Stroud, David A
ORCID: 0000-0002-2048-3383, White, Susan M, Christodoulou, John and Brown, Natasha J
(2022)
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
International Journal of Molecular Sciences, 23 (2).
ISSN 1661-6596