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Number of items: 94.

Thomas, Rhys H., Hunter, Amy, Butterworth, Lyndsey, Feeney, Catherine, Graves, Tracey D., Holmes, Sarah, Hossain, Pushpa, Lowndes, Jo, Sharpe, Jenny, Upadhyaya, Sheela, Varhaug, Kristin N., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Wheeler, Russell, Staley, Kristina and Rahman, Shamima 2022. Research priorities for mitochondrial disorders: current landscape and patient and professional views. Journal of Inherited Metabolic Disease 45 (4) , pp. 796-803. 10.1002/jimd.12521
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Beirne, Kathy, Freeman, Thomas J., Rozanowska, Malgorzata ORCID: https://orcid.org/0000-0003-2913-8954 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2021. Red light irradiation in vivo upregulates DJ-1 in the retinal ganglion cell layer and protects against axotomy-related dendritic pruning. International Journal of Molecular Sciences 22 (16) , 8380. 10.3390/ijms22168380
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Tribble, James R., Otmani, Amin, Sun, Shanshan, Ellis, Sevannah A., Cimaglia, Gloria, Vohra, Rupali, Jöe, Melissa, Lardner, Emma, Venkataraman, Abinaya P., Domínguez-Vicent, Alberto, Kokkali, Eirini, Rho, Seungsoo, Jóhannesson, Gauti, Burgess, Robert W., Fuerst, Peter G., Brautaset, Rune, Kolko, Miriam, Morgan, James E. ORCID: https://orcid.org/0000-0002-8920-1065, Crowston, Jonathan G., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Williams, Pete A. 2021. Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction. Redox Biology 43 , 101988. 10.1016/j.redox.2021.101988
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Kim, Dongjoon, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Roy, Sayon 2021. Opa1 deficiency promotes development of retinal vascular lesions in diabetic retinopathy. International Journal of Molecular Sciences 22 (11) , 5928. 10.3390/ijms22115928
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Erchova, Irina, Sun, Shanshan and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2021. A perspective on accelerated ageing caused by genetic deficiency of the metabolic protein, OPA1. Frontiers in Neurology 12 , 641259. 10.3389/fneur.2021.641259
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Ng, Wing Sum Vincent, Trigano, Matthieu, Freeman, Thomas, Varrichio, Carmine, Kandaswamy, Dinesh Kumar, Newland, Ben ORCID: https://orcid.org/0000-0002-5214-2604, Brancale, Andrea ORCID: https://orcid.org/0000-0002-9728-3419, Rozanowska, Malgorzata ORCID: https://orcid.org/0000-0003-2913-8954 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2021. New avenues for therapy in mitochondrial optic neuropathies. Therapeutic Advances in Rare Disease 2 , pp. 1-14. 10.1177/26330040211029037
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Catarino, Claudia B., von Livonius, Bettina, Priglinger, Claudia, Banik, Rudrani, Matloob, Selma, Tamhankar, Madhura A., Castillo, Lorena, Friedburg, Christoph, Halfpenny, Christopher A., Lincoln, John A., Traber, Ghislaine L., Acaroglu, Gölge, Black, Graeme C. M., Doncel, Carlos, Fraser, Clare L., Jakubaszko, Joanna, Landau, Klara, Langenegger, Stefan J., Muñoz-Negrete, Francisco J., Newman, Nancy J., Poulton, Joanna, Scoppettuolo, Elisabetta, Subramanian, Prem, Toosy, Ahmed T., Vidal, Mariona, Vincent, Andrea L., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Zarowski, Marcin, Zermansky, Adam, Lob, Felice, Rudolph, Günther, Mikazans, Oskars, Silva, Magda, Llòria, Xavier, Metz, Günther and Klopstock, Thomas 2020. Real-world clinical experience with Idebenone in the treatment of Leber hereditary optic neuropathy. Journal of Neuro-Ophthalmology 40 (4) , pp. 558-565. 10.1097/WNO.0000000000001023
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Varricchio, Carmine ORCID: https://orcid.org/0000-0002-1673-4768, Beirne, Kathy, Aeschlimann, Pascale, Heard, Charles ORCID: https://orcid.org/0000-0001-9703-9777, Rozanowska, Malgorzata ORCID: https://orcid.org/0000-0003-2913-8954, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Brancale, Andrea ORCID: https://orcid.org/0000-0002-9728-3419 2020. Discovery of Novel 2-Aniline-1,4-naphthoquinones as potential new drug treatment for Leber’s hereditary optic neuropathy (LHON). Journal of Medicinal Chemistry 63 (22) , 13638 -13655. 10.1021/acs.jmedchem.0c00942
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Cimaglia, Gloria, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Morgan, James E. ORCID: https://orcid.org/0000-0002-8920-1065, André, Helder and Williams, Pete A. 2020. Potential therapeutic benefit of NAD+ supplementation for glaucoma and age-related macular degeneration. Nutrients 12 (9) , 2871. 10.3390/nu12092871
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Bevan, Ryan J., Williams, Pete A., Waters, Caroline T. ORCID: https://orcid.org/0000-0001-6333-0646, Thirgood, Rebecca, Mui, Amanda, Seto, Sharon, Good, Mark ORCID: https://orcid.org/0000-0002-1824-1203, Morgan, James E. ORCID: https://orcid.org/0000-0002-8920-1065, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Erchova, Irina 2020. OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory. Brain Communications 2 (2) , fcaa101. 10.1093/braincomms/fcaa101
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Meschede, Ingrid P., Ovenden, Nicholas C., Seabra, Miguel C., Futter, Clare E., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Cheetham, Michael E. and Burgoyne, Thomas 2020. Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1. Proceedings of the National Academy of Sciences 117 (27) , pp. 15684-15693. 10.1073/pnas.2000304117
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Sun, Shanshan, Erchova, Irina, Sengpiel, Frank ORCID: https://orcid.org/0000-0002-7060-1851 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2020. Opa1 deficiency leads to diminished mitochondrial bioenergetics with compensatory increased mitochondrial motility. Investigative Ophthalmology & Visual Science 61 (6) , 42. 10.1167/iovs.61.6.42
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Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Leruez, Stéphanie, Colin, Estelle, Meunier, Audrey, Vignal, Catherine, Smirnov, Vasily, Defoort-Dhellemmes, Sabine, Drumare Bouvet, Isabelle, Goizet, Cyril, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Jurkute, Neringa, Yu-Wai-Man, Patrick, Tagliavini, Francesca, Caporali, Leonardo, La Morgia, Chiara, Carelli, Valerio, Procaccio, Vincent, Zanlonghi, Xavier, Meunier, Isabelle, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia and Lenaers, Guy 2020. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. Neurology Genetics 6 (3) , e428. 10.1212/NXG.0000000000000428
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Varricchio, C. ORCID: https://orcid.org/0000-0002-1673-4768, Beirne, K., Heard, C. ORCID: https://orcid.org/0000-0001-9703-9777, Newland, B. ORCID: https://orcid.org/0000-0002-5214-2604, Rozanowska, M. ORCID: https://orcid.org/0000-0003-2913-8954, Brancale, A. ORCID: https://orcid.org/0000-0002-9728-3419 and Votruba, M. ORCID: https://orcid.org/0000-0002-7680-9135 2020. The ying and yang of idebenone: Not too little, not too much - cell death in NQO1 deficient cells and the mouse retina. Free Radical Biology and Medicine 152 , pp. 551-560. 10.1016/j.freeradbiomed.2019.11.030
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Jurkute, Neringa, Leu, Costin, Pogoda, Hans-Martin, Arno, Gavin, Robson, Anthony G., Nürnberg, Gudrun, Altmüller, Janine, Thiele, Holger, Motameny, Susanne, Toliat, Mohammad Reza, Powell, Kate, Höhne, Wolfgang, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Hammerschmidt, Matthias, Nürnberg, Peter, Yu-Wai-Man, Patrick and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2019. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Annals of Neurology 86 (3) , pp. 368-383. 10.1002/ana.25550
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Morny, Enyam Komla A., Patel, Kishan, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Binns, Alison and Margrain, Thomas ORCID: https://orcid.org/0000-0003-1280-0809 2019. The relationship between the photopic negative response and retinal ganglion cell topography. Investigative Ophthalmology & Visual Science 60 (6) , pp. 1879-1887. 10.1167/iovs.18-25272
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Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin and Yu-Wai-Man, Patrick 2019. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. European Journal of Human Genetics 27 , pp. 494-502. 10.1038/s41431-018-0235-y
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Kousal, Bohdan, Kolarova, Hana, Meliska, Martin, Bydzovsky, Jan, Diblik, Pavel, Kulhanek, Jan, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Honzik, Tomas and Liskova, Petra 2019. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmologica 97 (1) , e71-e76. 10.1111/aos.13817
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Diot, A, Agnew, T, Sanderson, J, Liao, C, Carver, J, Neves, R, Gupta, R, Guo, Y, Waters, Caroline ORCID: https://orcid.org/0000-0001-6333-0646, Seto, Sharon, Daniels, M, Dombi, E, Lodge, T, Morten, K, Williams, S, Enver, T, Iborra, FJ, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Poulton, J 2018. Validating the RedMIT/GFP-LC3 mouse model by studying mitophagy in Autosomal Dominant Optic Atrophy due to the OPA1Q285STOP mutation. Frontiers in Cell and Developmental Biology 6 , 103. 10.3389/fcell.2018.00103
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Dawson, Sarah R., Linton, Emma, Beicher, Kris, Gale, Richard, Patel, Praveen, Ghanchi, Faruque, Beresford, Michael W., Poustie, Vanessa, Chakravarthy, Usha, Bourne, Rupert R. A. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2018. Ophthalmology research in the UK's National Health Service: the structure and performance of the NIHR?s Ophthalmology research portfolio. Eye 33 , pp. 610-618. 10.1038/s41433-018-0251-8
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Mahajan, Deepti and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2017. Can the retina be used to diagnose and plot the progression of Alzheimer's disease? Acta Ophthalmologica 95 (8) , pp. 768-777. 10.1111/aos.13472
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Carelli, V, Carbonelli, M, de Coo, I, Kawasaki, A, Klopstock, T, Lagrèze, W, La Morgia, C, Newman, N. J., Orssaud, C, Pott, J. W., Sadun, A, Everdingen, J, Vignal-Clermont, C, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Yu-Wai-Man, P and Barboni, P 2017. International consensus statement on the clinical and therapeutic management of Leber's Hereditary Optic Neuropathy. Journal of Neuro-Ophthalmology 37 (4) , pp. 371-381. 10.1097/WNO.0000000000000570
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Majander, Anna, Bowman, Richard, Poulton, Joanna, Antcliff, Richard J, Reddy, M Ashwin, Michaelides, Michel, Webster, Andrew R, Chinnery, Patrick F, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, Anthony T and Yu-Wai-Man, Patrick 2017. Childhood-onset Leber hereditary optic neuropathy. British Journal of Ophthalmology 101 (11) , pp. 1505-1509. 10.1136/bjophthalmol-2016-310072
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Mahajan, D. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95 (S259) 10.1111/j.1755-3768.2017.02682
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Majinder, A., Robson, Anthony G., Jo, Catarina, Holder, Graham E., Chinnery, Patrick F., Moore, Anthony T., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Stockman, Andrew and Yu-Wai-Man, Patrick 2017. The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy. Mitochondrion 36 , pp. 138-149. 10.1016/j.mito.2017.07.006
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Liskova, Petra, Tesarova, Marketa, Dudakova, Lucia, Svecova, Stepanka, Kolarova, Hana, Honzik, Tomas, Seto, Sharon and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2017. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmologica 95 (4) , pp. 363-369. 10.1111/aos.13285
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Beirne, Kathy, Rozanowska, Malgorzata ORCID: https://orcid.org/0000-0003-2913-8954 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion 10.1016/j.mito.2017.05.002
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Karaa, Amel, Rahman, Shamima, Lombès, Anne, Yu-Wai-Man, Patrick, Sheikh, Muniza K., Alai-Hansen, Sherita, Cohen, Bruce H., Dimmock, David, Emrick, Lisa, Falk, Marni J., McCormack, Shana, Mirsky, David, Moore, Tony, Parikh, Sumit, Shoffner, John, Taivassalo, Tanja, Tarnopolsky, Mark, Tein, Ingrid, Odenkirchen, Joanne C., Goldstein, Amy and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2017. Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project. Journal of Inherited Metabolic Disease 40 (3) , pp. 403-414. 10.1007/s10545-017-0035-5
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Liao, Chunyan, Ashley, Neil, Diot, Alan, Morten, Karl, Phadwal, Kanchan, Williams, Andrew, Fearnley, Ian, Rosser, Lyndon, Lowndes, Jo, Fratter, Carl, Ferguson, David J. P., Vay, Laura, Quaghebeur, Gerardine, Moroni, Isabella, Bianchi, Stefania, Lamperti, Costanza, Downes, Susan M., Sitarz, Kamil S., Flannery, Padraig J., Carver, Janet, Dombi, Eszter, East, Daniel, Laura, Matilde, Reilly, Mary M., Mortiboys, Heather, Prevo, Remko, Campanella, Michelangelo, Daniels, Matthew J., Zeviani, Massimo, Yu-Wai-Man, Patrick, Simon, Anna Katharina, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Poulton, Joanna 2017. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations. Neurology 88 (2) , pp. 131-142. 10.1212/WNL.0000000000003491
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Majander, Anna, João, Catarina, Rider, Andrew T., Henning, G. Bruce, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, Anthony T., Yu-Wai-Man, Patrick and Stockman, Andrew 2017. The pattern of retinal ganglion cell loss in OPA1-related autosomal dominant optic atrophy inferred from temporal, spatial, and chromatic sensitivity losses. Investigative Ophthalmology & Visual Science 58 (1) , pp. 502-516. 10.1167/iovs.16-20309
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Yu-Wai-Man, Patrick, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Burté, Florence, La Morgia, Chiara, Barboni, Piero and Carelli, Valerio 2016. A neurodegenerative perspective on mitochondrial optic neuropathies. Acta Neuropathologica 132 (6) , pp. 789-806. 10.1007/s00401-016-1625-2
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Kushnareva, Y., Seong, Y., Andreyev, A. Y., Kuwana, T., Kiosses, W. B., Votruba, M. ORCID: https://orcid.org/0000-0002-7680-9135 and Newmeyer, D. D. 2016. Mitochondrial dysfunction in an Opa1Q285STOP mouse model of dominant optic atrophy results from Opa1 haploinsufficiency. Cell Death and Disease 7 , e2309. 10.1038/cddis.2016.160
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Beirne, Kathy, Rozanowska, Malgorzata ORCID: https://orcid.org/0000-0003-2913-8954 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92 (4) , pp. 624-631. 10.1111/php.12606
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Navein, Alice E., Cooke, Esther J., Davies, Jennifer R., Smith, Terence G., Wells, Lois H. M. ORCID: https://orcid.org/0000-0003-3618-0595, Ohazama, Atsushi, Healy, Christopher, Sharpe, Paul T., Evans, Sam L. ORCID: https://orcid.org/0000-0003-3664-2569, Evans, Bronwen A. J. ORCID: https://orcid.org/0000-0003-3664-2569, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Wells, Timothy ORCID: https://orcid.org/0000-0003-3618-0595 2016. Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity. Human Molecular Genetics 25 (12) , pp. 2404-2416. 10.1093/hmg/ddw107
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Smith, T. G., Seto, S., Ganne, P. and Votruba, M. ORCID: https://orcid.org/0000-0002-7680-9135 2016. A randomized, placebo-controlled trial of the benzoquinone idebenone in a mouse model of OPA1-related dominant optic atrophy reveals a limited therapeutic effect on retinal ganglion cell dendropathy and visual function. Neuroscience 319 , pp. 92-106. 10.1016/j.neuroscience.2016.01.042
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Morny, Emyan Komla A., Margrain, Tom H. ORCID: https://orcid.org/0000-0003-1280-0809, Binns, Alison M. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2015. Electrophysiological ON and OFF responses in autosomal dominant optic atrophy. Investigative Ophthalmology & Visual Science 56 (13) , pp. 7629-7637. 10.1167/iovs.15-17951
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Pratyusha, Ganne and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2015. Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome). Acta Ophthalmologica 93 (7) , e598-e599. 10.1111/aos.12690

Ganne, Pratyusha, Garrioch, Robert and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2015. Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting. Ophthalmic Genetics 36 (1) , pp. 50-57. 10.3109/13816810.2014.985845

Sergouniotis, Panagiotis I., Perveen, Rahat, Thiselton, Dawn L., Giannopoulos, Konstantinos, Sarros, Marios, Davies, Jennifer R., Biswas, Susmito, Ansons, Alec M., Ashworth, Jane L., Lloyd, I. Christopher, Black, Graeme C. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2015. Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. Neurogenetics 16 (1) , pp. 69-75. 10.1007/s10048-014-0416-y
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Morris, Brid and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2014. Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation [Letter]. Acta Ophthalmologica 92 (1) , e77. 10.1111/aos.12100

Rowe, Fiona, Wormald, Richard, Cable, Richard, Acton, Michele, Bonstein, Karen, Bowen, Michael, Bronze, Carol, Bunce, Catey, Conroy, Dolores, Cowan, Katherine, Evans, Kathy, Fenton, Mark, Giles, Heather, Gordon, Iris, Halfhide, Louise, Harper, Robert, Lightstone, Anita, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Waterman, Heather ORCID: https://orcid.org/0000-0001-7052-2734 and Zekite, Antra 2014. The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process. BMJ Open 4 (7) , e004905. 10.1136/bmjopen-2014-004905
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Yu-Wai-Man, P., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, A. T. and Chinnery, P. F. 2014. Treatment strategies for inherited optic neuropathies: past, present and future. Eye 28 (5) , pp. 521-537. 10.1038/eye.2014.37

Bailie, Maura, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Griffiths, Philip G., Chinnery, Patrick F. and Yu-Wai-Man, Patrick 2013. Visual and psychological morbidity among patients with autosomal dominant optic atrophy [Letter]. Acta Ophthalmologica 91 (5) , e413-e414. 10.1111/aos.12077

Williams, Pete A., Thirgood, Rebecca A., Oliphant, Huw, Frizzati, Aura ORCID: https://orcid.org/0000-0002-7002-6180, Littlewood, Elinor, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Good, Mark Andrew ORCID: https://orcid.org/0000-0002-1824-1203, Williams, Julie ORCID: https://orcid.org/0000-0002-4069-0259 and Morgan, James Edwards ORCID: https://orcid.org/0000-0002-8920-1065 2013. Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease. Neurobiology of Aging 34 (7) , pp. 1799-1806. 10.1016/j.neurobiolaging.2013.01.006

Liskova, Petra, Ulmanova, Olga, Tesina, Petr, Melsova, Hana, Diblik, Pavel, Hansikova, Hana, Tesarova, Marketa and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2013. NovelOPA1missense mutation in a family with optic atrophy and severe widespread neurological disorder. Acta Ophthalmologica 91 (3) , pp. 225-231. 10.1111/aos.12038

Perganta, Georgia, Barnard, Alun R., Katti, Christiana, Vachtsevanos, Athanasios, Douglas, Ron H., MacLaren, Robert E., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Sekaran, Sumathi 2013. Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy. PLoS ONE 8 (2) , e56350. 10.1371/journal.pone.0056350
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Smith, Terence Gordon and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2013. Inherited dominant optic neuropathy: from clinical studies to gene function and back again. Drug Discovery Today: Disease Models 10 (4) , pp. 173-180. 10.1016/j.ddmod.2014.02.001

Wells, Timothy ORCID: https://orcid.org/0000-0003-3618-0595, Davies, Jennifer Rhian, Guschina, Irina, Ball, Daniel, Davies, Jeffrey Stephens, Davies, Vanessa J., Evans, Bronwen Alice James ORCID: https://orcid.org/0000-0002-3082-1008 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2012. Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Human Molecular Genetics 21 (22) , pp. 4836-4844. 10.1093/hmg/dds315

Klionsky, Daniel J., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and and 1268 other authors 2012. Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy 8 (4) , pp. 445-544. 10.4161/auto.19496

Liao, C., Ashley, N., Morten, K., Phadwal, K., Williams, A., Fearnley, I., Rosser, L., Lowndes, J., Fratter, C., Ferguson, D., Vay, L., Quaghebeur, G., Macleod, L., Gabriel, A., Downes, S., Simon, K., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Poulton, J. 2012. Dysregulated mitophagy and mitochondrial transport in severe dominant optic atrophy due to OPA1 mutations [Abstract]. Neuromuscular Disorders 22 (S1) , S3. 10.1016/S0960-8966(12)70003-2

Williams, Pete A., Piechota, Malgorzata, Von Ruhland, Christopher John, Taylor, Elaine, Morgan, James Edwards ORCID: https://orcid.org/0000-0002-8920-1065 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2012. Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity. Brain 135 (2) , pp. 493-505. 10.1093/brain/awr330

Morris, Brid and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2012. Leber's optic neuropathy - visual return on alcohol cessation [Letter]. Acta Ophthalmologica 90 (7) , e568. 10.1111/j.1755-3768.2012.02387.x

Chen, L., Liu, T., Tran, A., Lu, X., Tomilov, A. A., Davies, V., Cortopassi, G., Chiamvimonvat, N, Bers, D. M., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Knowlton, A. A. 2012. OPA1 mutation and late-onset cardiomyopathy: Mitochondrial dysfunction and mtDNA instability. Journal of the American Heart Association , e003012. 10.1161/JAHA.112.003012
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Powell, Kathryn Ann, Davies, Jennifer Rhian, Taylor, Elaine, Wride, Michael A. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2011. Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III. Investigative Ophthalmology & Visual Science 52 (7) , pp. 4369-4380. 10.1167/iovs.10-6406
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Williams, Peter A., Morgan, James Edwards ORCID: https://orcid.org/0000-0002-8920-1065 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2011. Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss? Vision Research 51 (2) , pp. 229-234. 10.1016/j.visres.2010.08.031

Barnard, Alun R., Issa, Peter Charbel, Perganta, Georgia, Williams, Peter A., Davies, Vanessa J., Sekaran, Sumathi, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and MacLaren, Robert E. 2011. Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy. Experimental Eye Research 93 (5) , pp. 771-777. 10.1016/j.exer.2011.07.004

Hamblion, Esther L., Moore, Anthony T., Rahi, Jugnoo S. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2011. Incidence and patterns of detection and management of childhood-onset hereditary retinal disorders in the UK. British Journal of Ophthalmology 96 (3) , pp. 360-365. 10.1136/bjo.2010.201178

Williams, Peter Alexander, Morgan, James Edwards ORCID: https://orcid.org/0000-0002-8920-1065 and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2010. Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy. Brain 133 (10) , pp. 2942-2951. 10.1093/brain/awq218

Yu-Wai-Man, P., Griffiths, P. G., Gorman, G. S., Lourenco, C. M., Wright, A. F., Auer-Grumbach, M., Toscano, A., Musumeci, O., Valentino, M. L., Caporali, L., Lamperti, C., Tallaksen, C. M., Duffey, P., Miller, J., Whittaker, R. G., Baker, M. R., Jackson, M. J., Clarke, M. P., Dhillon, B., Czermin, B., Stewart, J. D., Hudson, G., Reynier, P., Bonneau, D., Marques, W., Lenaers, G., McFarland, R., Taylor, R .W., Turnbull, D. M., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Zeviani, M., Carelli, V., Bindoff, L. A., Horvath, R., Amati-Bonneau, P. and Chinnery, P. F. 2010. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 133 (3) , pp. 771-786. 10.1093/brain/awq007

Sheppard, Jack, Hayes, Sally ORCID: https://orcid.org/0000-0001-8550-0108, Boote, Craig ORCID: https://orcid.org/0000-0003-0348-6547, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Meek, Keith Michael Andrew ORCID: https://orcid.org/0000-0002-9948-7538 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51 (6) , pp. 2936-2942. 10.1167/iovs.09-4612
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Yu-Wai-Man, Patrick, Davies, Vanessa J., Piechota, Malgorzata, Cree, Lynsey M., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Chinnery, Patrick F. 2009. Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (10) , pp. 4561-4566. 10.1167/iovs.09-3634
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White, Kathryn E., Davies, Vanessa J., Hogan, Vanessa E., Piechota, Malgorzata, Nichols, Philip P., Turnbull, Douglas M. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2009. OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. Investigative Ophthalmology & Visual Science 50 (6) , pp. 2567-2571. 10.1167/iovs.08-2913
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Davies, Vanessa J., Powell, Kathryn A., White, Kathryn E., Yip, Wan Fen, Hogan, Vanessa, Hollins, Andrew John ORCID: https://orcid.org/0000-0002-0324-9376, Davies, Jennifer Rhian, Piechota, Malgorzata, Brownstein, David G., Moat, Stuart James, Nichols, Philip P., Wride, Michael A., Boulton, Michael Edwin and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2008. A missense mutation in the murine Opa3 gene models human Costeff syndrome. Brain 131 (2) , pp. 368-380. 10.1093/brain/awm333

Davies, Vanessa J., Hollins, Andrew John ORCID: https://orcid.org/0000-0002-0324-9376, Piechota, Malgorzata, Yip, Wan Fen, Davies, Jennifer Rhian, White, Kathryn, Nicols, Phillip, Boulton, Michael Edwin and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2007. Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function. Human Molecular Genetics 16 (11) , pp. 1307-1318. 10.1093/hmg/ddm079

Hayes, Sally ORCID: https://orcid.org/0000-0001-8550-0108, Boote, Craig ORCID: https://orcid.org/0000-0003-0348-6547, Lewis, Jennifer, Sheppard, Jack, Abahussin, Mohammad, Quantock, Andrew James ORCID: https://orcid.org/0000-0002-2484-3120, Purslow, Christine, Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Meek, Keith Michael Andrew ORCID: https://orcid.org/0000-0002-9948-7538 2007. Comparative Study of Fibrillar Collagen Arrangement in the Corneas of Primates and Other Mammals. The Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology 290 (12) , pp. 1542-1550. 10.1002/ar.20613
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Davies, Vanessa J. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2006. Focus on molecules: the OPA1 protein. Experimental Eye Research 83 (5) , pp. 1003-1004. 10.1016/j.exer.2005.11.021

Aijaz, Saima, Erskine, Lynda, Jeffery, Glen, Bhattacharya, Shomi S. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2004. Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Investigative Ophthalmology and Visual Science 45 (6) , pp. 1667-1673. 10.1167/iovs.03-1093
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Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18 (11) , pp. 1126-1132. 10.1038/sj.eye.6701570

Granse, L., Bergstrand, I., Thiselton, D., Ponjavic, V., Heijl, A., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Andreasson, S. 2003. Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene [Abstract]. Investigative Ophthalmology and Visual Science 44 (S) , U446.

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Thiselton, D. and Bhattacharya, S. S. 2003. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. British Journal of Ophthalmology 87 (1) , pp. 48-53.
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Aijaz, S., Bhattacharya, S. S. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2003. Expression profile of OPA1, the gene associated with autosomal dominant optic atrophy in the developing and adult mammalian retina [Abstract]. Investigative Ophthalmology and Visual Science 44 (E-Abst)

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Aijaz, S. and Moore, A. T. 2003. A review of primary hereditary optic neuropathies. Journal of Inherited Metabolic Disease 26 (2-3) , pp. 209-227. 10.1023/A:1024441302074

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Hungerford, J., Cornes, P. G. S., Mabey, D. and Luthert, P. 2002. Primary monophasic synovial sarcoma of the conjunctiva [Letter]. British Journal of Ophthalmology 86 (12) , pp. 1453-1454. 10.1136/bjo.86.12.1453

Aung, T., Ocaka, L., Ebenezer, N. D., Morris, A. G., Francis, P. J., Thiselton, D. L., Alexander, C., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Brice, G., Child, A. H., Hitchings, R. A., Lehmann, O. J. and Bhattacharya, S. S. 2002. A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene. Human Genetics 110 (1) , pp. 52-56. 10.1007/s00439-001-0645-7

Thiselton, Dawn L., Alexander, Christiane, Taanman, Jan-Willem, Brooks, Simon, Rosenberg, Thomas, Eiberg, Hans, Andreasson, Sten, Regemorter, Nicole van, Munier, Francis L., Moore, Anthony T., Bhattacharya, Shomi S. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2002. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 43 (6) , pp. 1715-1724.

Thiselton, Dawn L., Alexander, Christiane, Morris, Alex, Brooks, Simon, Rosenberg, Thomas, Eiberg, Hans, Kjer, Birgit, Kjer, Poul, Bhattacharya, Shomi S. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2001. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Human Genetics 109 (5) , pp. 498-502. 10.1007/s004390100600

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2001. An "overtrained" ophthalmologist responds [Letter]. British Journal of Ophthalmology 85 (11) , p. 1394. 10.1136/bjo.85.11.1394

Gong, Y. Q., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H. W., Cundy, T., Glorieux, F. H., Lev, D., Zacharin, M., Oexle, K., Marcelino, J., Suwairi, W., Heeger, S., Sabatakos, G., Apte, S., Adkins, W. N., Allgrove, J., Arslan-Kirchner, M., Batch, J. A., Beighton, P., Black, G. C. M., Boles, R. G., Boon, L. M., Borrone, C., Brunner, H. G., Carle, G. F., Dallapiccola, B., De Paepe, A., Floege, B., Halfhide, M. L., Hall, B., Hennekam, R. C., Hirose, T., Jans, A., Juppner, H., Kim, C. A., Keppler-Noreuil, K., Kohlschuetter, A., LaCombe, D., Lambert, M., Lemyre, E., Letteboer, T., Peltonen, L., Ramesar, R. S., Romanengo, M., Somer, H., Steichen-Gersdorf, E., Steinmann, B., Sullivan, B., Superti-Furga, A., Swoboda, W., van den Boogaard, M. J., Van Hul, W., Vikkula, M., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Zabel, B., Garcia, T., Baron, R., Olsen, B. R. and Warman, M. L. 2001. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107 (4) , pp. 513-523. 10.1016/S0092-8674(01)00571-2

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Gregor, Z. 2001. Neovascular age-related macular degeneration: present and future treatment options. Eye 15 (3) , pp. 424-429. 10.1038/eye.2001.147

Bremner, F. D., Tomlin, E. A., Shallo-Hoffmann, J., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 and Smith, S. E. 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42 (3) , pp. 675-678.
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Ocaka, L., Aung, T., Thiselton, D. L., Francis, P. J., Aragon-Martin, J., Payne, A., Child, A. H., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Hitchings, R. A. and Bhattacharya, S. S. 2001. The gene responsibly for autosomal dominant optic atrophy, OPA1 is not associated with normal tension glaucoma [Abstract]. Investigative Ophthalmology and Visual Science 42 (4) , S564.

Alexander, C., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Pesch, U. E. A., Thiselton, D. L., Mayer, S., Moore, A., Rodriguez, M., Kellner, U., Leo-Kottler, B., Auburger, G., Bhattacharya, S. S. and Wissinger, B. 2000. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [Letter]. Nature Genetics 26 (2) , pp. 211-215. 10.1038/79944

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Leary, S., Losseff, N., Bhattacharya, S. S., Moore, A. T., Miller, D. H. and Moseley, I. F. 2000. MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy. Neuroradiology 42 (3) , pp. 180-183. 10.1007/s002340050041

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 1999. Clinical and functional features of patients with dominant optic atrophy - Reply. Archives of Ophthalmology 117 (2) , pp. 287-288.

Simunovic, M. P., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Regan, B. C. and Mollon, J. D. 1998. Colour discrimination ellipses in patients with dominant optic atrophy. Vision Research 38 (21) , pp. 3413-3419. 10.1016/S0042-6989(98)00094-7

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Payne, A., Moore, A. T. and Bhattacharya, S. S. 1998. Dominant optic atrophy: exclusion and fine genetic mapping of the candidate gene, HRY. Mammalian Genome 9 (10) , pp. 784-787. 10.1007/s003359900867

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, A. T. and Bhattacharya, S. S. 1998. Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy. Journal of Medical Genetics 35 (10) , pp. 793-800. 10.1136/jmg.35.10.793

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Fitzke, F. W., Holder, G. E., Carter, A., Bhattacharya, S. S. and Moore, A. T. 1998. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Archives of Ophthalmology 116 (3) , pp. 351-358. 10.1001/pubs.Ophthalmol.-ISSN-0003-9950-116-3-eog7505

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Collins, C. M. P. and Harrad, R. A. 1998. The management of solitary trichoepithelioma versus basal cell carcinoma. Eye 12 (1) , pp. 43-46. 10.1038/eye.1998.7

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, A. T. and Bhattacharya, S. S. 1998. Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method - A study of 38 British Isles pedigrees. Human Genetics 102 (1) , pp. 79-86. 10.1007/s004390050657

Holder, G. E., Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Carter, A. C., Bhattacharya, S. S., Fitzke, F. W. and Moore, A. T. 1998. Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. Documenta Ophthalmologica 95 (3-4) , pp. 217-228. 10.1023/A:1001844021014

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135, Moore, A. T. and Bhattacharya, S. S. 1997. Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q. Journal of Medical Genetics 34 (2) , pp. 117-121. 10.1136/jmg.34.2.117

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 1994. The case of the disappearing bullet [Letter]. Eye 8 (1) , pp. 143-144. 10.1038/eye.1994.28

Sharma, A. and Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77 (10) , p. 681. 10.1136/bjo.77.10.681-a

This list was generated on Sun Nov 27 06:22:28 2022 GMT.