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Marcela Votruba
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Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
106742021
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
Y Gong, RB Slee, N Fukai, G Rawadi, S Roman-Roman, AM Reginato, ...
Cell 107 (4), 513-523, 2001
26662001
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
C Alexander, M Votruba, UEA Pesch, DL Thiselton, S Mayer, A Moore, ...
Nature genetics 26 (2), 211-215, 2000
15602000
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function
VJ Davies, AJ Hollins, MJ Piechota, W Yip, JR Davies, KE White, ...
Human molecular genetics 16 (11), 1307-1318, 2007
4772007
Multi-system neurological disease is common in patients with OPA1 mutations
P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ...
Brain 133 (3), 771-786, 2010
4372010
OPA 1 Mutation and Late‐Onset Cardiomyopathy: Mitochondrial Dysfunction and mtDNA Instability
L Chen, T Liu, A Tran, X Lu, AA Tomilov, V Davies, G Cortopassi, ...
Journal of the American Heart Association 1 (5), e003012, 2012
2082012
International consensus statement on the clinical and therapeutic management of Leber hereditary optic neuropathy
V Carelli, M Carbonelli, IF De Coo, A Kawasaki, T Klopstock, WA Lagrčze, ...
Journal of Neuro-Ophthalmology 37 (4), 371-381, 2017
2042017
Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy
M Votruba, FW Fitzke, GE Holder, A Carter, SS Bhattacharya, AT Moore
Archives of ophthalmology 116 (3), 351-358, 1998
1891998
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene
T Aung, L Ocaka, ND Ebenezer, AG Morris, M Krawczak, DL Thiselton, ...
Human genetics 110, 52-56, 2002
1732002
Treatment strategies for inherited optic neuropathies: past, present and future
P Yu-Wai-Man, M Votruba, AT Moore, PF Chinnery
Eye 28 (5), 521-537, 2014
1652014
A neurodegenerative perspective on mitochondrial optic neuropathies
P Yu-Wai-Man, M Votruba, F Burté, C La Morgia, P Barboni, V Carelli
Acta neuropathologica 132, 789-806, 2016
1562016
Clinical features, molecular genetics, and pathophysiology of dominant optic atrophy.
M Votruba, AT Moore, SS Bhattacharya
Journal of medical genetics 35 (10), 793-800, 1998
1521998
A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy
DL Thiselton, C Alexander, JW Taanman, S Brooks, T Rosenberg, ...
Investigative ophthalmology & visual science 43 (6), 1715-1724, 2002
1282002
Comparative study of fibrillar collagen arrangement in the corneas of primates and other mammals
S Hayes, C Boote, J Lewis, J Sheppard, M Abahussin, AJ Quantock, ...
The Anatomical Record: Advances in Integrative Anatomy and Evolutionary …, 2007
1192007
Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy
PA Williams, JE Morgan, M Votruba
Brain 133 (10), 2942-2951, 2010
1112010
OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy
KE White, VJ Davies, VE Hogan, MJ Piechota, PP Nichols, DM Turnbull, ...
Investigative ophthalmology & visual science 50 (6), 2567-2571, 2009
1102009
Retinal ganglion cell dendritic degeneration in a mouse model of Alzheimer's disease
PA Williams, RA Thirgood, H Oliphant, A Frizzati, E Littlewood, M Votruba, ...
Neurobiology of aging 34 (7), 1799-1806, 2013
1062013
Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy
M Votruba, D Thiselton, SS Bhattacharya
British Journal of Ophthalmology 87 (1), 48-53, 2003
1062003
Nicotinamide provides neuroprotection in glaucoma by protecting against mitochondrial and metabolic dysfunction
JR Tribble, A Otmani, S Sun, SA Ellis, G Cimaglia, R Vohra, M Jöe, ...
Redox biology 43, 101988, 2021
1042021
Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations
C Liao, N Ashley, A Diot, K Morten, K Phadwal, A Williams, I Fearnley, ...
Neurology 88 (2), 131-142, 2017
952017
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