| Title | Authors (identified) | Published In | Identifier(s) | Topic | Published Date |
|---|
| Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction | [1]James Tribble, [2]Amin Otmani, [3]Shanshan Sun, [4]Sevannah A Ellis, [5]Gloria Cimaglia, [6]Rupali Vohra, [7]Melissa Jöe, [8]Emma Lardner, [9]Abinaya P Venkataraman, [10]Alberto Domínguez-Vicent, ..., [18]James E Morgan, [19]Jonathan G Crowston, [20]Marcela Votruba, [21]Pete A Williams [Full author list] | Redox Biology [curation] | DOI: 10.1016/J.REDOX.2021.101988
PubMed: 33932867 | | 2021-04-24 |
| Discovery of Novel 2-Aniline-1,4-naphthoquinones as Potential New Drug Treatment for Leber's Hereditary Optic Neuropathy (LHON) | [1]Carmine Varricchio, [2]Kathy Beirne, [3]Pascale Aeschlimann, [4]Charles M. Heard, [5]Malgorzata Rozanowska, [6]Marcela Votruba, [7]Andrea Brancale [Full author list] | Journal of Medicinal Chemistry [curation] | DOI: 10.1021/ACS.JMEDCHEM.0C00942
PubMed: 33180495 | hereditary optic neuropathy [curation] | 2020-11-12 |
| Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy | [1]Claudia B Catarino, [2]Bettina von Livonius, [3]Claudia Priglinger, [4]Rudrani Banik, [5]Selma Matloob, [6]Madhura A Tamhankar, [7]Lorena Castillo, [8]Christoph Friedburg, [9]Christopher A Halfpenny, [10]John A Lincoln, ..., [25]Mariona Vidal, [26]Andrea L Vincent, [27]Marcela Votruba, [28]Marcin Zarowski, [29]Adam Zermansky, ... [Full author list] | Journal of Neuro Ophthalmology [curation] | DOI: 10.1097/WNO.0000000000001023
PubMed: 32991388 | Leber hereditary optic neuropathy [curation] | 2020-09-22 |
| Potential Therapeutic Benefit of NAD+ Supplementation for Glaucoma and Age-Related Macular Degeneration | [1]Gloria Cimaglia, [2]Marcela Votruba, [3]James E Morgan, [4]Helder André, [5]Pete A Williams [Full author list] | Nutrients [curation] | DOI: 10.3390/NU12092871
PubMed: 32961812 | macular degeneration [curation] | 2020-09-19 |
| OPA1 deficiency accelerates hippocampal synaptic remodelling and age-related deficits in learning and memory | [1]Ryan J Bevan, [2]Pete A Williams, [3]Caroline T Waters, [4]Rebecca Thirgood, [5]Amanda Mui, [6]Sharon Seto, [7]Mark Good, [8]James E Morgan, [9]Marcela Votruba, [10]Irina Erchova [Full author list] | Brain communications [curation] | DOI: 10.1093/BRAINCOMMS/FCAA101
PubMed: 33094281 | | 2020-07-15 |
| Symmetric arrangement of mitochondria:plasma membrane contacts between adjacent photoreceptor cells regulated by Opa1 | [1]Ingrid P Meschede, [2]Nicholas Ovenden, [3]Miguel C. Seabra, [4]Clare E Futter, [5]Marcela Votruba, [6]Michael E. Cheetham, [7]Thomas Burgoyne [Full author list] | Proceedings of the National Academy of Sciences of the United States of America [curation] | DOI: 10.1073/PNAS.2000304117
PubMed: 32571921 | | 2020-06-22 |
| Opa1 Deficiency Leads to Diminished Mitochondrial Bioenergetics With Compensatory Increased Mitochondrial Motility | [1]Shanshan Sun, [2]Irina Erchova, [3]Frank Sengpiel, [4]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.61.6.42
PubMed: 32561926 | | 2020-06-01 |
| Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy | [1]Majida Charif, [2]Arnaud Chevrollier, [3]Naïg Gueguen, [4]Céline Bris, [5]David Goudenège, [6]Valérie Desquiret-Dumas, [7]Stéphanie Leruez, [8]Estelle Colin, [9]Audrey Meunier, [10]Catherine Vignal, ..., [13]Isabelle Drumare Bouvet, [14]Cyril Goizet, [15]Marcela Votruba, [16]Neringa Jurkute, [17]Patrick Yu-Wai-Man, ... [Full author list] | Neurology. Genetics [curation] | DOI: 10.1212/NXG.0000000000000428
PubMed: 32548275 | optic atrophy [curation] | 2020-05-20 |
| SSBP1 mutations in dominant optic atrophy with variable retinal degeneration | [1]Neringa Jurkute, [2]Costin Leu, [3]Hans-Martin Pogoda, [4]Gavin Arno, [5]Anthony Robson, [6]Gudrun Nürnberg, [7]Janine Altmüller, [8]Holger Thiele, [9]Susanne Motameny, [10]Mohammad Reza Toliat, [11]Kate Powell, [12]Wolfgang Höhne, [13]Michel Michaelides, [14]Andrew R Webster, [15]Anthony T Moore, [16]Matthias Hammerschmidt, [17]Peter Nürnberg, [18]Patrick Yu-Wai-Man, [19]Marcela Votruba [Full author list] | Annals of Neurology [curation] | DOI: 10.1002/ANA.25550
PubMed: 31298765 | retinal degeneration [curation]; optic atrophy [curation] | 2019-07-31 |
| The Relationship Between the Photopic Negative Response and Retinal Ganglion Cell Topography | [1]Enyam Komla A Morny, [2]Kishan Patel, [3]Marcela Votruba, [4]Alison M Binns, [5]Tom H Margrain [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.18-25272
PubMed: 31042794 | retinal ganglion cell [curation] | 2019-05-01 |
| Peripapillary microcirculation in Leber hereditary optic neuropathy | [1]Bohdan Kousal, [2]Hana Kolarova, [3]Martin Meliska, [4]Jan Bydzovsky, [5]Pavel Diblik, [6]Jan Kulhanek, [7]Marcela Votruba, [8]Tomas Honzik, [9]Petra Lišková [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.13817
PubMed: 30259673 | Leber hereditary optic neuropathy [curation] | 2018-09-26 |
| Validating the RedMIT/GFP-LC3 Mouse Model by Studying Mitophagy in Autosomal Dominant Optic Atrophy Due to the OPA1Q285STOP Mutation | [1]Alan Diot, [2]Thomas Agnew, [3]Jeremy Sanderson, [4]Chunyan Liao, [5]Janet Carver, [6]Ricardo Pires das Neves, [7]Rajeev Gupta, [8]Yanping Guo, [9]Caroline Waters, [10]Sharon Seto, [11]Matthew J Daniels, [12]Eszter Dombi, [13]Tiffany Lodge, [14]Karl Morten, [15]Suzannah A Williams, [16]Tariq Enver, [17]Francisco Iborra, [18]Marcela Votruba, [19]Joanna Poulton [Full author list] | Frontiers in Cell and Developmental Biology [curation] | DOI: 10.3389/FCELL.2018.00103
PubMed: 30283778 | autosomal dominant optic atrophy [curation] | 2018-09-19 |
| Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches | [1]Neringa Jurkute, [2]Anna Majander, [3]Richard Bowman, [4]Marcela Votruba, [5]Stephen Abbs, [6]James Acheson, [7]Guy Lenaers, [8]Patrizia Amati-Bonneau, [9]Mariya Moosajee, [10]Gavin Arno, [11]Patrick Yu-Wai-Man [Full author list] | European Journal of Human Genetics [curation] | DOI: 10.1038/S41431-018-0235-Y
PubMed: 30143805 | | 2018-08-24 |
| A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. | [1]Deepti Mahajan, [2]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.13629
PubMed: 29193891 | retinitis pigmentosa [curation] | 2017-11-29 |
| International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy. | [1]Valerio Carelli, [2]Michele Carbonelli, [3]Irenaeus F de Coo, [4]Aki Kawasaki, [5]Thomas Klopstock, [6]Wolf A. Lagrèze, [7]Chiara La Morgia, [8]Nancy J Newman, [9]Christophe Orssaud, [10]Jan Willem R Pott, [11]Alfredo A Sadun, [12]Judith van Everdingen, [13]Catherine Vignal-Clermont, [14]Marcela Votruba, [15]Patrick Yu-Wai-Man, [16]Piero Barboni [Full author list] | Journal of Neuro Ophthalmology [curation] | DOI: 10.1097/WNO.0000000000000570
PubMed: 28991104 | | 2017-10-03 |
| Can the retina be used to diagnose and plot the progression of Alzheimer's disease? | [1]Deepti Mahajan, [2]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.13472
PubMed: 29220126 | Alzheimer's disease [curation] | 2017-06-09 |
| Photostimulation of mitochondria as a treatment for retinal neurodegeneration | [1]Kathy Beirne, [2]Malgorzata Rozanowska, [3]Marcela Votruba [Full author list] | Mitochondrion [curation] | DOI: 10.1016/J.MITO.2017.05.002
PubMed: 28499983 | neurodegeneration [curation] | 2017-05-09 |
| Childhood-onset Leber hereditary optic neuropathy | [1]Anna Majander, [2]Richard Bowman, [3]Joanna Poulton, [4]Richard J Antcliff, [5]M Ashwin Reddy, [6]Michel Michaelides, [7]Andrew R Webster, [8]Patrick F. Chinnery, [9]Marcela Votruba, [10]Anthony T Moore, [11]Patrick Yu-Wai-Man [Full author list] | British Journal of Ophthalmology [curation] | DOI: 10.1136/BJOPHTHALMOL-2016-310072
PubMed: 28314831 | | 2017-03-17 |
| The Pattern of Retinal Ganglion Cell Loss in OPA1-Related Autosomal Dominant Optic Atrophy Inferred From Temporal, Spatial, and Chromatic Sensitivity Losses | [1]Anna Majander, [2]Catarina João, [3]Andrew T Rider, [4]G Bruce Henning, [5]Marcela Votruba, [6]Anthony T Moore, [7]Patrick Yu-Wai-Man, [8]Andrew Stockman [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.16-20309
PubMed: 28125838 | retinal ganglion cell [curation]; autosomal dominant optic atrophy [curation] | 2017-01-01 |
| Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations | [1]Chunyan Liao, [2]Neil Ashley, [3]Alan Diot, [4]Karl Morten, [5]Kanchan Phadwal, [6]Andrew Williams, [7]Ian Fearnley, [8]Lyndon Rosser, [9]Jo Lowndes, [10]Carl Fratter, ..., [30]Patrick Yu-Wai-Man, [31]Anna Katharina Simon, [32]Marcela Votruba, [33]Joanna Poulton [Full author list] | Neurology [curation] | DOI: 10.1212/WNL.0000000000003491
PubMed: 27974645 | mitochondrion [curation]; optic atrophy [curation] | 2016-12-14 |
| A neurodegenerative perspective on mitochondrial optic neuropathies | [1]Patrick Yu-Wai-Man, [2]Marcela Votruba, [3]Florence Burté, [4]Chiara La Morgia, [5]Piero Barboni, [6]Valerio Carelli [Full author list] | Acta Neuropathologica [curation] | DOI: 10.1007/S00401-016-1625-2
PubMed: 27696015 | mitochondrial DNA [curation]; Leber hereditary optic neuropathy [curation]; mitochondrial optic neuropathies [curation]; OPA1 mitochondrial dynamin like GTPase [curation]; autosomal dominant optic atrophy [curation] | 2016-12-01 |
| OPA1 analysis in an international series of probands with bilateral optic atrophy. | [1]Petra Lišková, [2]Markéta Tesařová, [3]Ľubica Ďuďáková, [4]Štěpánka Švecová, [5]Hana Kolarova, [6]Tomáš Honzík, [7]Sharon Seto, [8]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.13285
PubMed: 27860320 | | 2016-11-17 |
| Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency | [1]Y Kushnareva, [2]Y Seong, [3]Alexander Y. Andreyev, [4]T Kuwana, [5]W B Kiosses, [6]Marcela Votruba, [7]Donald D Newmeyer [Full author list] | Cell Death and Disease [curation] | DOI: 10.1038/CDDIS.2016.160
PubMed: 27468686 | haploinsufficiency [curation]; optic atrophy [curation] | 2016-07-28 |
| Red Light Treatment in an Axotomy Model of Neurodegeneration | [1]Kathy Beirne, [2]Malgorzata Rozanowska, [3]Marcela Votruba [Full author list] | Photochemistry and Photobiology [curation] | DOI: 10.1111/PHP.12606
PubMed: 27276065 | neurodegeneration [curation] | 2016-07-01 |
| Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity | [1]Alice E Navein, [2]Esther J Cooke, [3]Jennifer R Davies, [4]Terence G Smith, [5]Lois H M Wells, [6]Atsushi Ohazama, [7]Christopher Healy, [8]Paul T Sharpe, [9]Sam L. Evans, [10]Bronwen A J Evans, [11]Marcela Votruba, [12]Timothy Wells [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDW107
PubMed: 27106103 | | 2016-04-22 |
| 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. | [1]T G Smith, [2]S Seto, [3]P Ganne, [4]Marcela Votruba [Full author list] | Neuroscience [curation] | DOI: 10.1016/J.NEUROSCIENCE.2016.01.042
PubMed: 26820596 | retinal ganglion cell [curation]; optic atrophy [curation]; placebo-controlled trial [curation] | 2016-01-25 |
| Electrophysiological ON and OFF Responses in Autosomal Dominant Optic Atrophy | [1]Enyam Komla A Morny, [2]Tom H Margrain, [3]Alison Binns, [4]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.15-17951
PubMed: 26624494 | electrophysiology [curation]; autosomal dominant optic atrophy [curation] | 2015-12-01 |
| Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome) | [1]Ganne Pratyusha, [2]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.12690
PubMed: 25688597 | partial lipodystrophy [curation] | 2015-02-17 |
| Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting | [1]Pratyusha Ganne, [2]Robert Garrioch, [3]Marcela Votruba [Full author list] | Ophthalmic Genetics [curation] | DOI: 10.3109/13816810.2014.985845
PubMed: 25431037 | gene therapy [curation]; eye disease [curation] | 2014-11-28 |
| Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy | [1]Panagiotis I Sergouniotis, [2]Rahat Perveen, [3]Dawn L Thiselton, [4]Konstantinos Giannopoulos, [5]Marios Sarros, [6]Jennifer Davies, [7]Susmito Biswas, [8]Alec M Ansons, [9]Jane L Ashworth, [10]I Christopher Lloyd, [11]Graeme Black, [12]Marcela Votruba [Full author list] | Neurogenetics [curation] | DOI: 10.1007/S10048-014-0416-Y
PubMed: 25159689 | | 2014-08-27 |
| The Sight Loss and Vision Priority Setting Partnership (SLV-PSP): overview and results of the research prioritisation survey process | [1]Fiona J Rowe, [2]Richard Wormald, [3]Richard Cable, [4]Michele Acton, [5]Karen Bonstein, [6]Michael Bowen, [7]Carol Bronze, [8]Catey Bunce, [9]Dolores Conroy, [10]Katherine Cowan, [11]Kathy Evans, [12]Mark Fenton, [13]Heather Giles, [14]Iris Gordon, [15]Louise Halfhide, [16]Robert Harper, [17]Anita Lightstone, [18]Marcela Votruba, [19]Heather Waterman, [20]Antra Zekite [Full author list] | BMJ Open [curation] | DOI: 10.1136/BMJOPEN-2014-004905
PubMed: 25056971 | prioritization [curation] | 2014-07-23 |
| Treatment strategies for inherited optic neuropathies: past, present and future | [1]Patrick Yu-Wai-Man, [2]Marcela Votruba, [3]Anthony T Moore, [4]Patrick F. Chinnery [Full author list] | Eye [curation] | DOI: 10.1038/EYE.2014.37
PubMed: 24603424 | Leber hereditary optic neuropathy [curation]; autosomal dominant optic atrophy [curation] | 2014-05-01 |
| Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation | [1]Brid Morris, [2]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.12100
PubMed: 23506347 | | 2013-03-18 |
| Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease | [1]Pete A Williams, [2]Rebecca A Thirgood, [3]Huw Oliphant, [4]Aura Frizzati, [5]Elinor Littlewood, [6]Marcela Votruba, [7]Mark A Good, [8]Julie Williams, [9]James E Morgan [Full author list] | Neurobiology of Aging [curation] | DOI: 10.1016/J.NEUROBIOLAGING.2013.01.006
PubMed: 23465714 | retinal ganglion cell [curation] | 2013-03-07 |
| Visual and psychological morbidity among patients with autosomal dominant optic atrophy | [1]Maura Bailie, [2]Marcela Votruba, [3]Philip Griffiths, [4]Patrick F. Chinnery, [5]Patrick Yu-Wai-Man [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.12077
PubMed: 23452392 | autosomal dominant optic atrophy [curation] | 2013-03-04 |
| Non-image-forming light driven functions are preserved in a mouse model of autosomal dominant optic atrophy | [1]Georgia Perganta, [2]Alun R Barnard, [3]Christiana Katti, [4]Athanasios Vachtsevanos, [5]Ron H Douglas, [6]Robert MacLaren, [7]Marcela Votruba, [8]Sumathi Sekaran [Full author list] | PLOS One [curation] | DOI: 10.1371/JOURNAL.PONE.0056350
PubMed: 23409176 | autosomal dominant optic atrophy [curation] | 2013-02-11 |
| Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder | [1]Petra Lišková, [2]Olga Ulmanová, [3]Petr Tesina, [4]Hana Melsova, [5]Pavel Diblík, [6]Hana Hansikova, [7]Markéta Tesařová, [8]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/AOS.12038
PubMed: 23387428 | optic atrophy [curation] | 2013-02-07 |
| OPA1 mutation and late-onset cardiomyopathy: mitochondrial dysfunction and mtDNA instability | [1]Le Chen, [2]Tingting Liu, [3]Alice Tran, [4]Xiyuan Lu, [5]Alexey A Tomilov, [6]Vanessa Davies, [7]Gino Cortopassi, [8]Nipavan Chiamvimonvat, [9]Donald M. Bers, [10]Marcela Votruba, [11]Anne A Knowlton [Full author list] | Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease [curation] | DOI: 10.1161/JAHA.112.003012
PubMed: 23316298 | cardiomyopathy [curation] | 2012-10-25 |
| Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome | [1]Timothy Wells, [2]Jennifer R Davies, [3]Irina A Guschina, [4]Daniel J Ball, [5]Jeffrey S Davies, [6]Vanessa J Davies, [7]Bronwen A J Evans, [8]Marcela Votruba [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDS315
PubMed: 22869679 | mitochondrion [curation]; thermogenesis [curation]; Optic atrophy 3 [curation] | 2012-08-06 |
| Guidelines for the use and interpretation of assays for monitoring autophagy | [1]Daniel J. Klionsky, ..., [2]Fábio Camargo Abdalla, [3]Hagai Abeliovich, [4]Robert T. Abraham, [5]Abraham Acevedo-Arozena, [6]Khosrow Adeli, [7]Lotta Agholme, [8]Maria Agnello, [9]Patrizia Agostinis, [10]Julio Aguirre-Ghiso, ..., [1137]Olga Voitsekhovskaja, [1138]Clarissa von Haefen, [1139]Marcela Votruba, [1140]Keiji Wada, [1141]Richard Wade-Martins, ... [Full author list] | Autophagy [curation] | DOI: 10.4161/AUTO.19496
PubMed: 22966490 | autophagy [curation]; selective autophagy [curation]; process utilizing autophagic mechanism [curation] | 2012-04-01 |
| Leber's optic neuropathy - visual return on alcohol cessation | [1]Brid Morris, [2]Marcela Votruba [Full author list] | Acta Ophthalmologica [curation] | DOI: 10.1111/J.1755-3768.2012.02387.X
PubMed: 22405409 | | 2012-03-09 |
| Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity | [1]Pete A Williams, [2]Malgorzata Piechota, [3]Christopher von Ruhland, [4]Elaine Taylor, [5]James E Morgan, [6]Marcela Votruba [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWR330
PubMed: 22300878 | retinal ganglion cell [curation] | 2012-02-01 |
| Specific deficits in visual electrophysiology in a mouse model of dominant optic atrophy | [1]Alun R Barnard, [2]Peter Charbel Issa, [3]Georgia Perganta, [4]Pete A Williams, [5]Vanessa J Davies, [6]Sumathi Sekaran, [7]Marcela Votruba, [8]Robert MacLaren [Full author list] | Experimental Eye Research [curation] | DOI: 10.1016/J.EXER.2011.07.004
PubMed: 21803037 | electrophysiology [curation]; optic atrophy [curation] | 2011-07-22 |
| Mitochondrial localization and ocular expression of mutant Opa3 in a mouse model of 3-methylglutaconicaciduria type III | [1]Kate A Powell, [2]Jennifer Davies, [3]Elaine Taylor, [4]Michael A Wride, [5]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.10-6406
PubMed: 21613372 | mitochondrion [curation]; Optic atrophy 3 [curation] | 2011-06-21 |
| Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy | [1]Pete A Williams, [2]James E Morgan, [3]Marcela Votruba [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWQ218
PubMed: 20817698 | retinal ganglion cell [curation]; optic atrophy [curation] | 2010-09-03 |
| Mouse models of dominant optic atrophy: what do they tell us about the pathophysiology of visual loss? | [1]Pete A Williams, [2]J E Morgan, [3]Marcela Votruba [Full author list] | Vision Research [curation] | DOI: 10.1016/J.VISRES.2010.08.031
PubMed: 20801145 | pathophysiology [curation]; optic atrophy [curation] | 2010-08-27 |
| Multi-system neurological disease is common in patients with OPA1 mutations | [1]Patrick Yu-Wai-Man, [2]P G Griffiths, [3]Gráinne S. Gorman, [4]C M Lourenco, [5]A F Wright, [6]M Auer-Grumbach, [7]A Toscano, [8]O Musumeci, [9]Maria Lucia Valentino, [10]Leonardo Caporali, ..., [28]R W Taylor, [29]Douglass Matthew Turnbull, [30]Marcela Votruba, [31]M Zeviani, [32]Valerio Carelli, ... [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWQ007
PubMed: 20157015 | | 2010-02-15 |
| Changes in corneal collagen architecture during mouse postnatal development | [1]Jack Sheppard, [2]Sally Hayes, [3]Craig Boote, [4]Marcela Votruba, [5]Keith M Meek [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.09-4612
PubMed: 20089872 | | 2010-01-20 |
| Secondary mtDNA defects do not cause optic nerve dysfunction in a mouse model of dominant optic atrophy | [1]Patrick Yu-Wai-Man, [2]Vanessa J Davies, [3]Malgorzata J Piechota, [4]Lynsey M Cree, [5]Marcela Votruba, [6]Patrick F. Chinnery [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.09-3634
PubMed: 19443720 | | 2009-05-14 |
| OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy | [1]Kathryn E White, [2]Vanessa J Davies, [3]Vanessa E Hogan, [4]Malgorzata J Piechota, [5]Philip P Nichols, [6]Douglass Matthew Turnbull, [7]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.08-2913
PubMed: 19234344 | autophagy [curation]; retinal ganglion cell [curation]; murine model [curation] | 2009-02-21 |
| A missense mutation in the murine Opa3 gene models human Costeff syndrome | [1]Vanessa J Davies, [2]Kate A Powell, [3]Kathryn E White, [4]Wanfen Yip, [5]Vanessa Hogan, [6]Andrew J Hollins, [7]Jennifer R Davies, [8]Malgorzata Piechota, [9]David G Brownstein, [10]Stuart J Moat, [11]Philip P Nichols, [12]Michael A Wride, [13]Michael E Boulton, [14]Marcela Votruba [Full author list] | Brain [curation] | DOI: 10.1093/BRAIN/AWM333
PubMed: 18222992 | Optic atrophy 3 [curation] | 2008-02-01 |
| Comparative study of fibrillar collagen arrangement in the corneas of primates and other mammals | [1]Sally Hayes, [2]Craig Boote, [3]Jennifer Lewis, [4]Jack Sheppard, [5]Mohammad Abahussin, [6]Andrew J Quantock, [7]Christine Purslow, [8]Marcela Votruba, [9]Keith M Meek [Full author list] | The Anatomical Record [curation] | DOI: 10.1002/AR.20613
PubMed: 17957749 | | 2007-12-01 |
| Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function | [1]Vanessa J Davies, [2]Andrew J Hollins, [3]Malgorzata J Piechota, [4]Wanfen Yip, [5]Jennifer R Davies, [6]Kathryn E White, [7]Phillip P Nicols, [8]Michael E Boulton, [9]Marcela Votruba [Full author list] | Human Molecular Genetics [curation] | DOI: 10.1093/HMG/DDM079
PubMed: 17428816 | autosomal dominant optic atrophy [curation] | 2007-04-11 |
| Focus on molecules: the OPA1 protein | [1]Vanessa Davies, [2]Marcela Votruba [Full author list] | Experimental Eye Research [curation] | DOI: 10.1016/J.EXER.2005.11.021
PubMed: 16563384 | | 2006-03-23 |
| Molecular genetic basis of primary inherited optic neuropathies | [1]Votruba M, [1-Q56469509]Marcela Votruba [Full author list] | Eye [curation] | DOI: 10.1038/SJ.EYE.6701570
PubMed: 15534598 | | 2004-11-01 |
| Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer | [1]Saima Aijaz, [2]Lynda Erskine, [3]Glen Jeffery, [4]Shomi S Bhattacharya, [5]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | DOI: 10.1167/IOVS.03-1093
PubMed: 15161824 | retinal ganglion cell [curation]; optic atrophy [curation] | 2004-06-01 |
| Electrophysiology and ocular blood flow in a family with dominant optic nerve atrophy and a mutation in the OPA1 gene | [1]Lotta Gränse, [2]Ingar Bergstrand, [3]Dawn Thiselton, [4]Vesna Ponjavic, [5]Anders Heijl, [6]Marcela Votruba, [7]Sten Andréasson [Full author list] | Ophthalmic Genetics [curation] | DOI: 10.1076/OPGE.24.4.233.17230
PubMed: 14566653 | electrophysiology [curation] | 2003-12-01 |
| Primary monophasic synovial sarcoma of the conjunctiva | [1]Marcela Votruba, [2]J Hungerford, [3]P G S Cornes, [4]David Mabey, [5]Philip J. Luthert [Full author list] | British Journal of Ophthalmology [curation] | DOI: 10.1136/BJO.86.12.1453
PubMed: 12446398 | monophasic synovial sarcoma [curation] | 2002-12-01 |
| A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy | [1]Dawn L Thiselton, [2]Christiane Alexander, [3]Jan-Willem Taanman, [4]Simon Brooks, [5]Thomas Rosenberg, [6]Hans Eiberg, [7]Sten Andreasson, [8]Nicole Van Regemorter, [9]Francis L Munier, [10]Anthony T Moore, [11]Shomi S Bhattacharya, [12]Marcela Votruba [Full author list] | Investigative Ophthalmology Visual Science [curation] | PubMed: 12036970 | autosomal dominant optic atrophy [curation] | 2002-06-01 |
| A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene | [1]Tin Aung, [2]Louise Ocaka, [3]Neil D Ebenezer, [4]Alex G Morris, [5]Michael Krawczak, [6]Dawn L Thiselton, [7]Christiane Alexander, [8]Marcela Votruba, [9]Glen Brice, [10]Anne H Child, [11]Peter J Francis, [12]Roger A Hitchings, [13]Ordan J Lehmann, [14]Shomi S Bhattacharya [Full author list] | Human Genetics [curation] | DOI: 10.1007/S00439-001-0645-7
PubMed: 11810296 | | 2002-01-01 |
| LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development | [1]Y Gong, [2]R B Slee, [3]N Fukai, [4]G Rawadi, [5]Sergio Roman-Roman, [6]A M Reginato, [7]H Wang, [8]Timothy Cundy, [9]F H Glorieux, [10]D Lev, ..., [55]W Van Hul, [56]Miikka Vikkula, [57]Marcela Votruba, [58]B Zabel, [59]T Garcia, ... [Full author list] | Cell [curation] | DOI: 10.1016/S0092-8674(01)00571-2
PubMed: 11719191 | | 2001-11-16 |
| 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 | [1]Thiselton DL, [2]Alexander C, [3]Morris A, [4]Brooks S, [5]Rosenberg T, [6]Eiberg H, [7]Kjer B, [8]Kjer P, [9]Bhattacharya SS, [10]Marcela Votruba [Full author list] | Human Genetics [curation] | DOI: 10.1007/S004390100600
PubMed: 11735024 | founder effect [curation]; optic atrophy [curation] | 2001-10-03 |
| Neovascular age-related macular degeneration: present and future treatment options | [1]Marcela Votruba, [2]Gregor Z [Full author list] | Eye [curation] | DOI: 10.1038/EYE.2001.147
PubMed: 11450768 | macular degeneration [curation] | 2001-06-01 |
| The pupil in dominant optic atrophy | [1]Bremner FD, [2]Tomlin EA, [3]Shallo-Hoffmann J, [4]Marcela Votruba, [5]Smith SE [Full author list] | Investigative Ophthalmology Visual Science [curation] | PubMed: 11222526 | optic atrophy [curation] | 2001-03-01 |
| OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 | [1]C Alexander, [2]Marcela Votruba, [3]U E Pesch, [4]D L Thiselton, [5]S Mayer, [6]A Moore, [7]M Rodriguez, [8]U Kellner, [9]B Leo-Kottler, [10]G Auburger, [11]S S Bhattacharya, [12]B Wissinger [Full author list] | Nature Genetics [curation] | DOI: 10.1038/79944
PubMed: 11017080 | axonal transport of mitochondrion [curation]; OPA1 mitochondrial dynamin like GTPase [curation]; autosomal dominant optic atrophy [curation] | 2000-10-01 |
| MRI of the intraorbital optic nerve in patients with autosomal dominant optic atrophy | [1]Marcela Votruba, [2]S Leary, [3]N Losseff, [4]S S Bhattacharya, [5]A T Moore, [6]D H Miller, [7]I F Moseley [Full author list] | Neuroradiology [curation] | DOI: 10.1007/S002340050041
PubMed: 10772138 | autosomal dominant optic atrophy [curation] | 2000-03-01 |
| Association between autosomal dominant optic atrophy and Ewing sarcoma | [1]Marcela Votruba, [2]P Cornes [Full author list] | Journal of Pediatric Hematology/Oncology [curation] | PubMed: 10598674 | autosomal dominant optic atrophy [curation] | 1999-11-01 |
| Colour discrimination ellipses in patients with dominant optic atrophy | [1]M P Simunovic, [2]Marcela Votruba, [3]B C Regan, [4]J D Mollon [Full author list] | Vision Research [curation] | DOI: 10.1016/S0042-6989(98)00094-7
PubMed: 9893858 | optic atrophy [curation] | 1998-11-01 |
| Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy | [1]Marcela Votruba, [2]F W Fitzke, [3]G E Holder, [4]A Carter, [5]S S Bhattacharya, [6]A T Moore [Full author list] | JAMA Ophthalmology [curation] | DOI: 10.1001/ARCHOPHT.116.3.351
PubMed: 9514489 | optic atrophy [curation] | 1998-03-01 |
| Demonstration of a founder effect and fine mapping of dominant optic atrophy locus on 3q28-qter by linkage disequilibrium method | [1]Marcela Votruba, [2]Anthony T. Moore, [3]Shomi S. Bhattacharya [Full author list] | Human Genetics [curation] | DOI: 10.1007/S004390050657
| founder effect [curation]; linkage disequilibrium [curation]; optic atrophy [curation]; disequilibrium [curation] | 1998-01-21 |
| Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter | [1]G E Holder, [2]Marcela Votruba, [3]A C Carter, [4]S S Bhattacharya, [5]F W Fitzke, [6]A T Moore [Full author list] | Documenta Ophthalmologica [curation] | DOI: 10.1023/A:1001844021014
PubMed: 10532406 | optic atrophy [curation] | 1998-01-01 |
| Genetic refinement of dominant optic atrophy (OPA1) locus to within a 2 cM interval of chromosome 3q | [1]Marcela Votruba, [2]A T Moore, [3]S S Bhattacharya [Full author list] | Journal of Medical Genetics [curation] | DOI: 10.1136/JMG.34.2.117
PubMed: 9039986 | optic atrophy [curation] | 1997-02-01 |
| The case of the disappearing bullet | [1]Marcela Votruba [Full author list] | Eye [curation] | DOI: 10.1038/EYE.1994.28
PubMed: 8013709 | | 1994-01-01 |
| Thymoxamine in the treatment of traumatic mydriasis | [1]A Sharma, [2]Marcela Votruba [Full author list] | British Journal of Ophthalmology [curation] | DOI: 10.1136/BJO.77.10.681-A
PubMed: 8218044 | | 1993-10-01 |