Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy von Van Bergen, Nicole J, Crowston, Jonathan G, Craig, Jamie E, Burdon, Kathryn P, Kearns, Lisa S, Sharma, Shiwani, Hewitt, Alex W, Mackey, David A, Trounce, Ian A

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Novel CDKL5 targets identified in human iPSC-derived neurons von Massey, Sean, Ang, Ching-Seng, Davidson, Nadia M., Quigley, Anita, Rollo, Ben, Harris, Alexander R., Kapsa, Robert M. I., Christodoulou, John, Van Bergen, Nicole J.

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Integrated multi-omics for rapid rare disease diagnosis on a national scale von Lunke, Sebastian, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A., Wilson, Meredith, Pinner, Jason, Hunter, Matthew F., Barnett, Christopher P., Wallis, Mathew, Kamien, Benjamin, Tan, Tiong Y., Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S., Ha, Thuong, Gao, Song, Arts, Peer, Jackson, Matilda R., Scott, Hamish S., Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten, Rakonjac, Ana, Brett, Gemma R., de Silva, Michelle G., Springer, Amanda, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J., Sikora, Tim, Semcesen, Liana N., Stroud, David A., Compton, Alison G., Thorburn, David R., Bell, Katrina M., Sadedin, Simon, North, Kathryn N., Christodoulou, John, Stark, Zornitza

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Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder von Massey, Sean, Quigley, Anita, Rochfort, Simone, Christodoulou, John, Van Bergen, Nicole J

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Loss of mitochondrial DNA‐encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly von Lim, Sze Chern, Hroudová, Jana, Van Bergen, Nicole J., Sanchez, M. Isabel G. Lopez, Trounce, Ian A., McKenzie, Matthew

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Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder von Van Bergen, Nicole J., Massey, Sean, Stait, Tegan, Ellery, Molly, Reljić, Boris, Formosa, Luke E., Quigley, Anita, Dottori, Mirella, Thorburn, David, Stroud, David A., Christodoulou, John

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Impaired complex-I-linked respiration and ATP synthesis in primary open-angle glaucoma patient lymphoblasts von Lee, Shanjean, Sheck, Leo, Crowston, Jonathan G, Van Bergen, Nicole J, O'Neill, Evelyn C, O'Hare, Fleur, Kong, Yu Xiang George, Chrysostomou, Vicki, Vincent, Andrea L, Trounce, Ian A

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Recharacterization of the RGC-5 Retinal Ganglion Cell Line von Van Bergen, Nicole J, Wood, John P. M, Chidlow, Glyn, Trounce, Ian A, Casson, Robert J, Ju, Won-Kyu, Weinreb, Robert N, Crowston, Jonathan G

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Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies von Lee, Shanjean, Van Bergen, Nicole J., Kong, George Y., Chrysostomou, Vicki, Waugh, Hayley S., O’Neill, Evelyn C., Crowston, Jonathan G., Trounce, Ian A.

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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A) von Kaur, Simranpreet, Van Bergen, Nicole J., Verhey, Kristen J., Nowell, Cameron J., Budaitis, Breane, Yue, Yang, Ellaway, Carolyn, Brunetti‐Pierri, Nicola, Cappuccio, Gerarda, Bruno, Irene, Boyle, Lia, Nigro, Vincenzo, Torella, Annalaura, Roscioli, Tony, Cowley, Mark J., Massey, Sean, Sonawane, Rhea, Burton, Matthew D., Schonewolf‐Greulich, Bitten, Tümer, Zeynep, Chung, Wendy K., Gold, Wendy A., Christodoulou, John

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Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy von Van Bergen, Nicole J, Crowston, Jonathan G, Kearns, Lisa S, Staffieri, Sandra E, Hewitt, Alex W, Cohn, Amy C, Mackey, David A, Trounce, Ian A

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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma von Van Bergen, Nicole J, Gunanayagam, Karen, Bournazos, Adam M, Walvekar, Adhish S, Warmoes, Marc O, Semcesen, Liana N, Lunke, Sebastian, Bommireddipalli, Shobhana, Sikora, Tim, Patraskaki, Myrto, Jones, Dean L, Garza, Denisse, Sebire, Dale, Gooley, Samuel, McLean, Catriona A, Naidoo, Parm, Rajasekaran, Mugil, Stroud, David A, Linster, Carole L, Wallis, Mathew, Cooper, Sandra T, Christodoulou, John

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Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function von Van Bergen, Nicole J, Hock, Daniella H, Spencer, Lucy, Massey, Sean, Stait, Tegan, Stark, Zornitza, Lunke, Sebastian, Roesley, Ain, Peters, Heidi, Lee, Joy Yaplito, Le Fevre, Anna, Heath, Oliver, Mignone, Cristina, Yang, Joseph Yuan-Mou, Ryan, Monique M, D'Arcy, Colleen, Nash, Margot, Smith, Sile, Caruana, Nikeisha J, Thorburn, David R, Stroud, David A, White, Susan M, Christodoulou, John, Brown, Natasha J

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Antifibrotic activity of bevacizumab on human Tenon's fibroblasts in vitro von O'Neill, Evelyn C, Qin, Queena, Van Bergen, Nicole J, Connell, Paul P, Vasudevan, Sushil, Coote, Michael A, Trounce, Ian A, Wong, Tina T L, Crowston, Jonathan G

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Defining Biomarkers in Stem Cell‐Derived Tissue Constructs for Drug and Disease Screening von Harris, Alexander R., McGivern, Patrick, Gilbert, Frederic, Van Bergen, Nicole

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Study of mitochondrial respiratory defects on reprogramming to human induced pluripotent stem cells von Hung, Sandy S C, Van Bergen, Nicole J, Jackson, Stacey, Liang, Helena, Mackey, David A, Hernández, Damián, Lim, Shiang Y, Hewitt, Alex W, Trounce, Ian, Pébay, Alice, Wong, Raymond C B

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Oxidative phosphorylation measurement in cell lines and tissues von Van Bergen, Nicole J, Blake, Rachel E, Crowston, Jonathan G, Trounce, Ian A

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Reply: Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy von Van Bergen, Nicole J, Ellery, Molly, Christodoulou, John

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Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness von Van Bergen, Nicole J, Linster, Carole L, Christodoulou, John

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Nox4 Facilitates TGFβ1-Induced Fibrotic Response in Human Tenon’s Fibroblasts and Promotes Wound Collagen Accumulation in Murine Model of Glaucoma Filtration Surgery von Shah, Manisha H., Chan, Elsa C., Van Bergen, Nicole J., Pandav, Surinder S., Ng, Sze, Crowston, Jonathan G., Peshavariya, Hitesh M.

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