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Therapeutic Options in Hereditary Optic Neuropathies.
- Published in:
- Drugs, 2021, v. 81, n. 1, p. 57, doi. 10.1007/s40265-020-01428-3
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- Publication type:
- Article
Medical management of hereditary optic neuropathies.
- Published in:
- Frontiers in Neurology, 2014, v. 5, p. 1, doi. 10.3389/fneur.2014.00141
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- Publication type:
- Article
The Italian reappraisal of the most frequent genetic defects in hereditary optic neuropathies and the global top 10.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. e67, doi. 10.1093/brain/awad080
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- Publication type:
- Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Melanopsin retinal ganglion cell loss in Alzheimer disease.
- Published in:
- 2016
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- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
- Published in:
- 2015
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- Publication type:
- journal article
Syndromic parkinsonism and dementia associated with OPA 1 missense mutations.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 1, p. 21, doi. 10.1002/ana.24410
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- Publication type:
- Article
Retinal nerve fiber layer thickness in nonarteritic anterior ischemic optic neuropathy: OCT characterization of the acute and resolving phases.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2008, v. 246, n. 5, p. 641, doi. 10.1007/s00417-008-0767-x
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- Publication type:
- Article
Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 590, doi. 10.1002/acn3.51026
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- Publication type:
- Article
Multishell Diffusion MR Tractography Yields Morphological and Microstructural Information of the Anterior Optic Pathway: A Proof-of-Concept Study in Patients with Leber's Hereditary Optic Neuropathy.
- Published in:
- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 11, p. 6914, doi. 10.3390/ijerph19116914
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- Publication type:
- Article
Multimodal investigation of melanopsin retinal ganglion cells in Alzheimer's disease.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 6, p. 918, doi. 10.1002/acn3.51773
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- Publication type:
- Article
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-61735-3
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- Publication type:
- Article
Peripapillary detachment in pathologic myopia: Unusual OCT findings.
- Published in:
- Clinical Ophthalmology, 2007, v. 1, n. 3, p. 327
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- Publication type:
- Article
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.
- Published in:
- Frontiers in Genetics, 2022, p. 1, doi. 10.3389/fgene.2022.887696
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- Publication type:
- Article
Chromatic Pupillometry Findings in Alzheimer's Disease.
- Published in:
- Frontiers in Neuroscience, 2020, v. 14, p. N.PAG, doi. 10.3389/fnins.2020.00780
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- Publication type:
- Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
- Published in:
- 2021
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- Publication type:
- journal article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- 2020
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- Publication type:
- journal article
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
- Published in:
- Journal of Clinical Investigation, 2020, v. 130, n. 1, p. 108, doi. 10.1172/JCI128514
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- Publication type:
- Article
Retinal nerve fiber layer thickness variability in Leber hereditary optic neuropathy carriers.
- Published in:
- European Journal of Ophthalmology, 2012, v. 22, n. 6, p. 985, doi. 10.5301/ejo.5000154
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- Publication type:
- Article
Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies.
- Published in:
- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00710
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- Publication type:
- Article
Optic nerve head dimension as biomarker in Leber hereditary optic neuropathy.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, p. N.PAG, doi. 10.1111/aos.16118
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- Publication type:
- Article
Inner retina and melanopsin retinal ganglion cells in Parkinson's disease.
- Published in:
- Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.15578
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- Publication type:
- Article
Anterior Chamber and Aqueous Depth Measurement in Pseudophakic Eyes: Agreement Between Ultrasound Biometry and Scheimpflug Imaging.
- Published in:
- Journal of Refractive Surgery, 2013, v. 29, n. 2, p. 121, doi. 10.3928/1081597X-20130117-07
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- Publication type:
- Article
Scheimpflug Camera Measurement of Anterior and Posterior Corneal Curvature in Eyes With Previous Radial Keratotomy.
- Published in:
- Journal of Refractive Surgery, 2012, v. 28, n. 4, p. 275, doi. 10.3928/1081597X-20120221-03
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- Publication type:
- Article
Anterior Chamber Depth Measurement in Pseudophakic Eyes: A Comparison of Pentacam and Ultrasound.
- Published in:
- Journal of Refractive Surgery, 2010, v. 26, n. 5, p. 341, doi. 10.3928/1081597X-20090617-02
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- Publication type:
- Article
Agreement Between Pentacam and Videokeratography in Corneal Power Assessment.
- Published in:
- Journal of Refractive Surgery, 2009, v. 25, n. 6, p. 534
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- Publication type:
- Article
'Behr syndrome' with OPA1 compound heterozygote mutations.
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- 2015
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- Publication type:
- letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Microcystic macular degeneration from optic neuropathy: not inflammatory, not trans-synaptic degeneration.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e239, doi. 10.1093/brain/awt014
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- Publication type:
- Article
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 2, p. e231, doi. 10.1093/brain/aws280
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- Publication type:
- Article
Idebenone Treatment In Leber's Hereditary Optic Neuropathy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. e188, doi. 10.1093/brain/awr180
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- Publication type:
- Article
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007210
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- Publication type:
- Article
Chromatic Pupillometry in Isolated Rapid Eye Movement Sleep Behavior Disorder.
- Published in:
- Movement Disorders, 2022, v. 37, n. 1, p. 205, doi. 10.1002/mds.28809
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- Publication type:
- Article
A Novel in-Frame 18-bp Microdeletion in MT- CYB Causes a Multisystem Disorder with Prominent Exercise Intolerance.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 954, doi. 10.1002/humu.22596
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- Publication type:
- Article
Retinal vascular impairment in Wolfram syndrome: an optical coherence tomography angiography study.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06150-6
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- Publication type:
- Article
Co‐occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16344
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- Publication type:
- Article
Macular Microcysts in Mitochondrial Optic Neuropathies: Prevalence and Retinal Layer Thickness Measurements.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0127906
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- Publication type:
- Article
Multimodal evaluation of the melanopsin retinal ganglion cells system in relation to circadian rhythms in Alzheimer's disease and aging.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, p. 1, doi. 10.1002/alz.052286
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- Publication type:
- Article