Found: 45
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A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene.
- Published in:
- Human Genetics, 2002, v. 110, n. 1, p. 52, doi. 10.1007/s00439-001-0645-7
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- Publication type:
- Article
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.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 498, doi. 10.1007/s004390100600
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- Publication type:
- Article
Potential Therapeutic Benefit of NAD + Supplementation for Glaucoma and Age-Related Macular Degeneration.
- Published in:
- Nutrients, 2020, v. 12, n. 9, p. 2871, doi. 10.3390/nu12092871
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- Publication type:
- Article
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
- Published in:
- Neurogenetics, 2015, v. 16, n. 1, p. 69, doi. 10.1007/s10048-014-0416-y
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- Publication type:
- Article
Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4836, doi. 10.1093/hmg/dds315
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- Publication type:
- Article
Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 11, p. 1307, doi. 10.1093/hmg/ddm079
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- Publication type:
- Article
SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.
- Published in:
- 2019
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- Publication type:
- journal article
Red Light Irradiation In Vivo Upregulates DJ-1 in the Retinal Ganglion Cell Layer and Protects against Axotomy-Related Dendritic Pruning.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8380, doi. 10.3390/ijms22168380
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- Publication type:
- Article
Opa1 Deficiency Promotes Development of Retinal Vascular Lesions in Diabetic Retinopathy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5928, doi. 10.3390/ijms22115928
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- Publication type:
- Article
A neurodegenerative perspective on mitochondrial optic neuropathies.
- Published in:
- Acta Neuropathologica, 2016, v. 132, n. 6, p. 789, doi. 10.1007/s00401-016-1625-2
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- Publication type:
- Article
Biosimilars of anti‐vascular endothelial growth factors for ophthalmic disease – Clinical trial status 2021.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
The landscape of clinical trials research in inherited eye disease.
- Published in:
- 2022
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- Publication type:
- Abstract
The top ten research priorities for rare mitochondrial diseases: results of a patient/health professional priority setting partnership.
- Published in:
- Acta Ophthalmologica (1755375X), 2021, v. 99, p. N.PAG, doi. 10.1111/j.1755-3768.2020.0024
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- Publication type:
- Article
Peripapillary microcirculation in Leber hereditary optic neuropathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, n. 1, p. e71, doi. 10.1111/aos.13817
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- Publication type:
- Article
A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.
- Published in:
- 2018
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- Publication type:
- Case Study
Can the retina be used to diagnose and plot the progression of Alzheimer's disease?
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 8, p. 768, doi. 10.1111/aos.13472
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- Publication type:
- Article
OPA1 analysis in an international series of probands with bilateral optic atrophy.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 4, p. 363, doi. 10.1111/aos.13285
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- Publication type:
- Article
Retinal changes in a patient with acquired partial lipodystrophy (Laignel-Lavastine and Viard Syndrome).
- Published in:
- Acta Ophthalmologica (1755375X), 2015, v. 93, n. 7, p. e598, doi. 10.1111/aos.12690
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- Publication type:
- Article
Mean cellular volume in a patient with Leber's optic neuropathy and visual return on alcohol cessation.
- Published in:
- Acta Ophthalmologica (1755375X), 2014, v. 92, n. 1, p. e77, doi. 10.1111/aos.12100
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- Publication type:
- Article
Visual and psychological morbidity among patients with autosomal dominant optic atrophy.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 5, p. e413, doi. 10.1111/aos.12077
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- Publication type:
- Article
Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.
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- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 3, p. e225, doi. 10.1111/aos.12038
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- Publication type:
- Article
Leber's optic neuropathy - visual return on alcohol cessation.
- Published in:
- Acta Ophthalmologica (1755375X), 2012, v. 90, n. 7, p. e568, doi. 10.1111/j.1755-3768.2012.02387.x
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- Publication type:
- Article
Red Light Treatment in an Axotomy Model of Neurodegeneration.
- Published in:
- Photochemistry & Photobiology, 2016, v. 92, n. 4, p. 624, doi. 10.1111/php.12606
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- Publication type:
- Article
Comparative Study of Fibrillar Collagen Arrangement in the Corneas of Primates and Other Mammals.
- Published in:
- Anatomical Record: Advances in Integrative Anatomy & Evolutionary Biology, 2007, v. 290, n. 12, p. 1542, doi. 10.1002/ar.20613
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- Publication type:
- Article
Non-Image-Forming Light Driven Functions Are Preserved in a Mouse Model of Autosomal Dominant Optic Atrophy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056350
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- Publication type:
- Article
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 211, doi. 10.1038/79944
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- Publication type:
- Article
Research priorities for mitochondrial disorders: Current landscape and patient and professional views.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 796, doi. 10.1002/jimd.12521
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- Publication type:
- Article
We would like to especially recognize the creativity, energy, and substantive contributions from all women in ophthalmology and vision science! You have brought a fresh and much needed perspective to EVER.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16457
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- Publication type:
- Article
It is our joint task to translate into reality a more equal and connected world for women scientists in all their diversity.
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- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16456
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- Publication type:
- Article
This WOMEN in EVER session is connecting early‐career and leading women scientists from all over Europe to tackle the underrepresentation of women in science by increasing visibility.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16459
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- Publication type:
- Article
WOMEN in EVER is supporting women researchers, clinicians, and academic staff in their career development with a goal to prepare them for leadership roles in the scientific community.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16458
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- Publication type:
- Article
Fostering an international network of women scientists and clinicians, encouraging open dialogue, and inspiring future women scientists in ophthalmology and vision science.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16455
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- Publication type:
- Article
What OPA1 models teach us about potential therapy.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16436
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- Publication type:
- Article
Mitochondria and vision – a life in mitochondria always on the move.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16264
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- Publication type:
- Article
Current status & outcomes of the Welsh national cohort of patients with leber's hereditary optic neuropathy treated with idebenone.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Genetic landscape of inherited retinal dystrophies in a Welsh Tertiary Referral Centre.
- Published in:
- 2024
- By:
- Publication type:
- Abstract
Retinal involvement in mitochondrial disease.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
COVID‐19 vaccination and vision loss in three older male individuals homoplasmic for m.14484 T > C mutation in the ND6 gene.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Biosimilars of anti‐vascular endothelial growth factors for ophthalmic disease – Clinical trial status 2022.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0018
- By:
- Publication type:
- Article
Opa1 is essential for retinal ganglion cell synaptic architecture and connectivity.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 2, p. 493, doi. 10.1093/brain/awr330
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- Publication type:
- Article
Opa1 deficiency in a mouse model of dominant optic atrophy leads to retinal ganglion cell dendropathy.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2942, doi. 10.1093/brain/awq218
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- Publication type:
- Article
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 368, doi. 10.1093/brain/awm333
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- Publication type:
- Article
Oral nicotinamide provides robust, dose-dependent structural and metabolic neuroprotection of retinal ganglion cells in experimental glaucoma.
- Published in:
- Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01850-8
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- Publication type:
- Article
Disrupted mitochondrial function in the Opa3<sup>L122P</sup> mouse model for Costeff Syndrome impairs skeletal integrity.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 12, p. 2404, doi. 10.1093/hmg/ddw107
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- Publication type:
- Article
A Perspective on Accelerated Aging Caused by the Genetic Deficiency of the Metabolic Protein, OPA1.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.641259
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- Publication type:
- Article