Hock, Daniella H
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Hock, Daniella H, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Semcesen, Liana N, Lake, Nicole J, Formosa, Luke E
ORCID: https://orcid.org/0000-0002-7740-6151, Amarasekera, Sumudu SC, Stait, Tegan, Tregoning, Simone, Frajman, Leah E, Bournazos, Adam M, Robinson, David RL, Ball, Megan, Reljic, Boris
ORCID: https://orcid.org/0000-0002-4655-8478, Ryder, Bryony, Wallis, Mathew J, Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B, Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M, McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G, Balasubramaniam, Shanti, Siira, Stefan J, Simons, Cas
ORCID: https://orcid.org/0000-0003-3147-8042, Sallevelt, Suzanne CEH, Ghaoui, Roula, Davis, Ryan L, Murray, Sean, Coman, David, Stojanovski, Diana, Filipovska, Aleksandra, Karlaftis, Vasiliki, Attard, Chantal, Monagle, Paul, Samarasinghe, Amanda, Brown, Rosie, Bi, Weimin, Lek, Monkol, McFarland, Robert, Taylor, Robert, Ryan, Michael T, Cooper, Sandra T, Stark, Zornitza, Christodoulou, John
ORCID: https://orcid.org/0000-0002-8431-0641, Compton, Alison G, Thorburn, David
ORCID: https://orcid.org/0000-0002-7725-9470 and Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383
(2025)
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Genome Medicine, 17 (1).
ISSN 1756-994X
Van Hove, Johan LK, Friederich, Marisa W, Hock, Daniella H ORCID: https://orcid.org/0000-0002-6940-4420, Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383, Caruana, Nikeisha
ORCID: https://orcid.org/0000-0002-0817-1686, Christians, Uwe
ORCID: https://orcid.org/0000-0001-7297-147X, Schniedewind, Björn, Michel, Cole R, Reisdorph, Richard
ORCID: https://orcid.org/0000-0003-3162-0571, Lopez Gonzalez, Edwin DJ, Brenner, Charles
ORCID: https://orcid.org/0000-0002-4955-3226, Donovan, Tonia E, Lee, Jessica C, Chatfield, Kathryn C, Larson, Austin A, Baker, Peter Russell, McCandless, Shawn E
ORCID: https://orcid.org/0000-0001-5719-1520 and Moore Burk, Meghan F
(2024)
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Mitochondrion, 78.
ISSN 1567-7249
Blue, Elizabeth E, Huang, Samuel J, Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A, Gillentine, Madelyn A, Fleming, Leah R, Adams, David R, Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W, Hisama, Fuki M, Horike-Pyne, Martha, Lee, Jessica C, Donovan, Tonia E, Hock, Daniella H, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H, Michel, Cole R, Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383, Sybert, Virginia P, Wener, Mark H, Stergachis, Andrew B, Lam, Christina T, Jarvik, Gail P, Dipple, Katrina A, Van Hove, Johan LK and Glass, Ian A
(2024)
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Rare, 2.
ISSN 2950-0087
Van Haute, Lindsey ORCID: https://orcid.org/0000-0001-7809-1473, O’Connor, Emily, Díaz-Maldonado, Héctor, Munro, Benjamin, Polavarapu, Kiran
ORCID: https://orcid.org/0000-0002-8879-6001, Hock, Daniella H
ORCID: https://orcid.org/0000-0002-6940-4420, Arunachal, Gautham, Athanasiou-Fragkouli, Alkyoni, Bardhan, Mainak
ORCID: https://orcid.org/0000-0002-4106-409X, Barth, Magalie, Bonneau, Dominique, Brunetti-Pierri, Nicola
ORCID: https://orcid.org/0000-0002-6895-8819, Cappuccio, Gerarda, Caruana, Nikeisha
ORCID: https://orcid.org/0000-0002-0817-1686, Dominik, Natalia, Goel, Himanshu, Helman, Guy
ORCID: https://orcid.org/0000-0002-4784-7423, Houlden, Henry
ORCID: https://orcid.org/0000-0002-2866-7777, Lenaers, Guy
ORCID: https://orcid.org/0000-0003-2736-3349, Mention, Karine, Murphy, David, Nandeesh, Bevinahalli, Olimpio, Catarina, Powell, Christopher A, Preethish-Kumar, Veeramani, Procaccio, Vincent, Rius, Rocio
ORCID: https://orcid.org/0000-0002-9871-3126, Rebelo-Guiomar, Pedro
ORCID: https://orcid.org/0000-0002-5060-7519, Simons, Cas
ORCID: https://orcid.org/0000-0003-3147-8042, Vengalil, Seena
ORCID: https://orcid.org/0000-0002-0629-9221, Zaki, Maha S
ORCID: https://orcid.org/0000-0001-7840-0002, Ziegler, Alban, Thorburn, David
ORCID: https://orcid.org/0000-0002-7725-9470, Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383, Maroofian, Reza, Christodoulou, John
ORCID: https://orcid.org/0000-0002-8431-0641, Gustafsson, Claes
ORCID: https://orcid.org/0000-0003-3531-8468, Nalini, Atchayaram, Lochmüller, Hanns, Minczuk, Michal
ORCID: https://orcid.org/0000-0001-8242-1420 and Horvath, Rita
ORCID: https://orcid.org/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: https://orcid.org/0000-0002-4655-8478, Surgenor, Elliot E, Rodrigues, Carlos HM, Caruana, Nikeisha
ORCID: https://orcid.org/0000-0002-0817-1686 and Stroud, David A
ORCID: https://orcid.org/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: https://orcid.org/0000-0002-0817-1686, Thorburn, David R, Stroud, David A
ORCID: https://orcid.org/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
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