Hock, Daniella H

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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

Robinson, David RL, Hock, Daniella H, Muellner-Wong, Linden, Kugapreethan, Roopasingam, Reljic, Boris ORCID: 0000-0002-4655-8478, Surgenor, Elliot E, Rodrigues, Carlos HM, Caruana, Nikeisha ORCID: 0000-0002-0817-1686 and Stroud, David A ORCID: 0000-0002-2048-3383 (2022) Applying Sodium Carbonate Extraction Mass Spectrometry to Investigate Defects in the Mitochondrial Respiratory Chain. Frontiers in Cell and Developmental Biology, 10. pp. 1-16. ISSN 2296-634X

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