Browse by Current Cardiff authors

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, 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

Sun, Shanshan, Erchova, Irina, Sengpiel, Frank and Votruba, Marcela 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

Meschede, Ingrid P., Ovenden, Nicholas C., Seabra, Miguel C., Futter, Clare E., Votruba, Marcela, 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 , 202000304. 10.1073/pnas.2000304117

Varricchio, C., Beirne, K., Heard, C., Newland, B., Rozanowska, M., Brancale, A. and Votruba, M. 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 Item availability restricted.

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 2019. SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Annals of Neurology 86 (3) , pp. 368-383. 10.1002/ana.25550

Morny, Enyam Komla A., Patel, Kishan, Votruba, Marcela, Binns, Alison and Margrain, Thomas 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

Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, 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

Kousal, Bohdan, Kolarova, Hana, Meliska, Martin, Bydzovsky, Jan, Diblik, Pavel, Kulhanek, Jan, Votruba, Marcela, Honzik, Tomas and Liskova, Petra 2019. Peripapillary microcirculation in Leber hereditary optic neuropathy. Acta Ophthalmologica 97 (1) , e71-e76. 10.1111/aos.13817

Diot, A, Agnew, T, Sanderson, J, Liao, C, Carver, J, Neves, R, Gupta, R, Guo, Y, Waters, Caroline, Seto, Sharon, Daniels, M, Dombi, E, Lodge, T, Morten, K, Williams, S, Enver, T, Iborra, FJ, Votruba, Marcela 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

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 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

Mahajan, Deepti and Votruba, Marcela 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

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, 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

Majander, Anna, Bowman, Richard, Poulton, Joanna, Antcliff, Richard J, Reddy, M Ashwin, Michaelides, Michel, Webster, Andrew R, Chinnery, Patrick F, Votruba, Marcela, 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

Mahajan, D. and Votruba, Marcela 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

Majinder, A., Robson, Anthony G., Jo, Catarina, Holder, Graham E., Chinnery, Patrick F., Moore, Anthony T., Votruba, Marcela, 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

Liskova, Petra, Tesarova, Marketa, Dudakova, Lucia, Svecova, Stepanka, Kolarova, Hana, Honzik, Tomas, Seto, Sharon and Votruba, Marcela 2017. OPA1 analysis in an international series of probands with bilateral optic atrophy. Acta Ophthalmologica 95 (4) , pp. 363-369. 10.1111/aos.13285

Beirne, Kathy, Rozanowska, Malgorzata and Votruba, Marcela 2017. Photostimulation of mitochondria as a treatment for retinal neurodegeneration. Mitochondrion 10.1016/j.mito.2017.05.002

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 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

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 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

Majander, Anna, João, Catarina, Rider, Andrew T., Henning, G. Bruce, Votruba, Marcela, 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

Yu-Wai-Man, Patrick, Votruba, Marcela, 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

Kushnareva, Y., Seong, Y., Andreyev, A. Y., Kuwana, T., Kiosses, W. B., Votruba, M. 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

Beirne, Kathy, Rozanowska, Malgorzata and Votruba, Marcela 2016. Red light treatment in an axotomy model of neurodegeneration. Photochemistry and Photobiology 92 (4) , pp. 624-631. 10.1111/php.12606

Navein, Alice E., Cooke, Esther J., Davies, Jennifer R., Smith, Terence G., Wells, Lois H. M., Ohazama, Atsushi, Healy, Christopher, Sharpe, Paul T., Evans, Samuel L., Evans, Bronwen A J, Votruba, Marcela and Wells, Timothy 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

Smith, T. G., Seto, S., Ganne, P. and Votruba, M. 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

Morny, Emyan Komla A., Margrain, Tom H., Binns, Alison M. and Votruba, Marcela 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

Pratyusha, Ganne and Votruba, Marcela 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 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 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

Morris, Brid and Votruba, Marcela 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, Waterman, Heather 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

Yu-Wai-Man, P., Votruba, Marcela, 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, 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, Littlewood, Elinor, Votruba, Marcela, Good, Mark Andrew, Williams, Julie and Morgan, James Edwards 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 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 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

Smith, Terence Gordon and Votruba, Marcela 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, Davies, Jennifer Rhian, Guschina, Irina, Ball, Daniel, Davies, Jeffrey Stephens, Davies, Vanessa J., Evans, Bronwen Alice James and Votruba, Marcela 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 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 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 and Votruba, Marcela 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 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 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

Williams, Peter A., Morgan, James Edwards and Votruba, Marcela 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 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

Powell, Kathryn Ann, Davies, Jennifer Rhian, Taylor, Elaine, Wride, Michael A. and Votruba, Marcela 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

Hamblion, Esther L., Moore, Anthony T., Rahi, Jugnoo S. and Votruba, Marcela 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 and Votruba, Marcela 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, 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, Boote, Craig, Votruba, Marcela and Meek, Keith Michael Andrew 2010. Changes in corneal collagen architecture during mouse postnatal development. Investigative Ophthalmology & Visual Science 51 (6) , pp. 2936-2942. 10.1167/iovs.09-4612

Yu-Wai-Man, Patrick, Davies, Vanessa J., Piechota, Malgorzata, Cree, Lynsey M., Votruba, Marcela 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

White, Kathryn E., Davies, Vanessa J., Hogan, Vanessa E., Piechota, Malgorzata, Nichols, Philip P., Turnbull, Douglas M. and Votruba, Marcela 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

Davies, Vanessa J., Powell, Kathryn A., White, Kathryn E., Yip, Wan Fen, Hogan, Vanessa, Hollins, Andrew John, Davies, Jennifer Rhian, Piechota, Malgorzata, Brownstein, David G., Moat, Stuart James, Nichols, Philip P., Wride, Michael A., Boulton, Michael Edwin and Votruba, Marcela 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, Piechota, Malgorzata, Yip, Wan Fen, Davies, Jennifer Rhian, White, Kathryn, Nicols, Phillip, Boulton, Michael Edwin and Votruba, Marcela 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, Boote, Craig, Lewis, Jennifer, Sheppard, Jack, Abahussin, Mohammad, Quantock, Andrew James, Purslow, Christine, Votruba, Marcela and Meek, Keith Michael Andrew 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

Davies, Vanessa J. and Votruba, Marcela 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 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

Votruba, Marcela 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 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, 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.

Aijaz, S., Bhattacharya, S. S. and Votruba, Marcela 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, 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, 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, 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 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 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 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, 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 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 and Smith, S. E. 2001. The pupil in dominant optic atrophy. Investigative Ophthalmology and Visual Science 42 (3) , pp. 675-678.

Ocaka, L., Aung, T., Thiselton, D. L., Francis, P. J., Aragon-Martin, J., Payne, A., Child, A. H., Votruba, Marcela, 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, 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, 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 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, 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, 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, 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, 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, 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, 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, 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, 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 1994. The case of the disappearing bullet [Letter]. Eye 8 (1) , pp. 143-144. 10.1038/eye.1994.28

Sharma, A. and Votruba, Marcela 1993. Thymoxamine in the treatment of traumatic mydriasis [Letter]. British Journal of Ophthalmology 77 (10) , p. 681. 10.1136/bjo.77.10.681-a