Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management
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[1] N. Newman,et al. Optic neuritis and autoimmune optic neuropathies: advances in diagnosis and treatment , 2022, The Lancet Neurology.
[2] N. Newman,et al. Imaging of the optic nerve: technological advances and future prospects , 2022, The Lancet Neurology.
[3] Xiangtian Zhou,et al. Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber’s hereditary optic neuropathy , 2022, Human molecular genetics.
[4] V. Tiranti,et al. Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy , 2022, Cell reports.
[5] P. Yu-Wai-Man,et al. Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells , 2022, Human molecular genetics.
[6] P. Barboni,et al. Capturing the pattern of transition from carrier to affected in Leber's hereditary optic neuropathy. , 2022, American journal of ophthalmology.
[7] P. Yu-Wai-Man,et al. The Impact of Leber Hereditary Optic Neuropathy on the Quality of Life of Patients and Their Relatives: A Qualitative Study , 2022, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[8] P. Barboni,et al. The pattern of retinal ganglion cell loss in Wolfram syndrome is distinct from mitochondrial optic neuropathies. , 2022, American journal of ophthalmology-glaucoma.
[9] M. Bitner-Glindzicz,et al. WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression. , 2022, American journal of ophthalmology.
[10] W. Feuer,et al. Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of all Patient Groups. , 2022, American journal of ophthalmology.
[11] W. Lagrèze,et al. DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy , 2022, Journal of Medical Genetics.
[12] D. Mackey,et al. Establishing risk of vision loss in Leber hereditary optic neuropathy , 2021, American journal of human genetics.
[13] David J. Calkins,et al. Biodistribution of intravitreal lenadogene nolparvovec gene therapy in nonhuman primates , 2021, Molecular therapy. Methods & clinical development.
[14] P. Yu-Wai-Man,et al. Induced Pluripotent Stem Cells for Inherited Optic Neuropathies—Disease Modeling and Therapeutic Development , 2021, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[15] J. Sahel,et al. Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy , 2021, International ophthalmology clinics.
[16] Y. Oh,et al. Gene therapy strategies for rare monogenic disorders with nuclear or mitochondrial gene mutations. , 2021, Biomaterials.
[17] P. Yu-Wai-Man,et al. CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs , 2021, Molecular therapy. Nucleic acids.
[18] Molly Scannell Bryan,et al. Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies , 2021, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[19] Low vision rehabilitation in improving the quality of life for patients with impaired vision: A systematic review and meta-analysis of 52 randomized clinical trials: Retraction , 2021, Medicine.
[20] Robert W. Taylor,et al. Mitochondrial disease in adults: recent advances and future promise , 2021, The Lancet Neurology.
[21] C. Moraes,et al. Mitochondrial targeted meganuclease as a platform to eliminate mutant mtDNA in vivo , 2021, Nature Communications.
[22] J. Sahel,et al. Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison , 2021, Frontiers in Neurology.
[23] J. Sahel,et al. Early and late stage gene therapy interventions for inherited retinal degenerations , 2021, Progress in Retinal and Eye Research.
[24] J. Sahel,et al. Natural history of patients with Leber hereditary optic neuropathy—results from the REALITY study , 2021, Eye.
[25] C. Orssaud,et al. MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy , 2021, Genes.
[26] V. Carelli,et al. Molecular Mechanisms behind Inherited Neurodegeneration of the Optic Nerve , 2021, Biomolecules.
[27] J. Sahel,et al. Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study , 2021, BioDrugs.
[28] T. Strom,et al. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy , 2021, The Journal of clinical investigation.
[29] J. Sahel,et al. Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset. , 2021, Ophthalmology.
[30] C. Mitsch,et al. Changes in Visual Function and Correlations with Inner Retinal Structure in Acute and Chronic Leber’s Hereditary Optic Neuropathy Patients after Treatment with Idebenone , 2021, Journal of clinical medicine.
[31] P. Yu-Wai-Man,et al. Dominant optic atrophy: Culprit mitochondria in the optic nerve , 2020, Progress in Retinal and Eye Research.
[32] David J. Calkins,et al. Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy , 2020, Science Translational Medicine.
[33] P. Barboni,et al. Therapeutic Options in Hereditary Optic Neuropathies , 2020, Drugs.
[34] N. Newman,et al. Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy , 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[35] N. Newman,et al. Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation. , 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[36] John J. Chen,et al. Nuclear DNA mutation causing a phenotypic Leber hereditary optic neuropathy plus. , 2020, Ophthalmology.
[37] J. Sahel,et al. Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study , 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[38] Nektarios Tavernarakis,et al. Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy , 2020, Nature Communications.
[39] David R. Liu,et al. A bacterial cytidine deaminase toxin enables CRISPR-free mitochondrial base editing , 2020, Nature.
[40] P. Chinnery. Mitochondrial Replacement in the Clinic. , 2020, New England Journal of Medicine.
[41] Makoto Nakamura,et al. A Single-Arm, Prospective, Exploratory Study to Preliminarily Test Effectiveness and Safety of Skin Electrical Stimulation for Leber Hereditary Optic Neuropathy , 2020, Journal of clinical medicine.
[42] F. Urano,et al. Gene-edited human stem cell–derived β cells from a patient with monogenic diabetes reverse preexisting diabetes in mice , 2020, Science Translational Medicine.
[43] P. Barboni,et al. Idebenone increases chance of stabilization/recovery of visual acuity in OPA1‐dominant optic atrophy , 2020, Annals of clinical and translational neurology.
[44] G. Savini,et al. Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome , 2020, Scientific Reports.
[45] M. Kalloniatis,et al. A holistic model of low vision care for improving vision‐related quality of life , 2020, Clinical & experimental optometry.
[46] Jian Sun,et al. Seven-Year Follow-up of Gene Therapy for Leber's Hereditary Optic Neuropathy. , 2020, Ophthalmology.
[47] Xin Li,et al. Factors associated with rapid improvement in visual acuity in patients with Leber's hereditary optic neuropathy after gene therapy. , 2020, Acta ophthalmologica.
[48] B. Heindryckx,et al. Comparative analysis of different nuclear transfer techniques to prevent the transmission of mitochondrial DNA variants. , 2019, Molecular human reproduction.
[49] B. Pemp,et al. Visual function in chronic Leber’s hereditary optic neuropathy during idebenone treatment initiated 5 to 50 years after onset , 2019, Graefe's Archive for Clinical and Experimental Ophthalmology.
[50] J. Sahel,et al. Immune Response and Intraocular Inflammation in Patients With Leber Hereditary Optic Neuropathy Treated With Intravitreal Injection of Recombinant Adeno-Associated Virus 2 Carrying the ND4 Gene: A Secondary Analysis of a Phase 1/2 Clinical Trial , 2019, JAMA ophthalmology.
[51] B. Delprat,et al. ER-mitochondria cross-talk is regulated by the Ca2+ sensor NCS1 and is impaired in Wolfram syndrome , 2018, Science Signaling.
[52] R. Bowman,et al. Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches , 2018, European Journal of Human Genetics.
[53] B. Ravina,et al. Gene therapy for neurological disorders: progress and prospects , 2018, Nature Reviews Drug Discovery.
[54] G. Lenaers,et al. OPA1: How much do we know to approach therapy? , 2018, Pharmacological research.
[55] C. Tilikete,et al. Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy , 2018, Orphanet Journal of Rare Diseases.
[56] G. Lenaers,et al. OPA1 gene therapy prevents retinal ganglion cell loss in a Dominant Optic Atrophy mouse model , 2018, Scientific Reports.
[57] N. Newman,et al. International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy , 2017, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[58] W. Hauswirth,et al. Gene Therapy for Leber Hereditary Optic Neuropathy: Low- and Medium-Dose Visual Results. , 2017, Ophthalmology.
[59] C. La Morgia,et al. Incomplete penetrance in mitochondrial optic neuropathies. , 2017, Mitochondrion.
[60] N. Newman,et al. Inherited eye-related disorders due to mitochondrial dysfunction , 2017, Human molecular genetics.
[61] C. La Morgia,et al. Optic neuropathies: the tip of the neurodegeneration iceberg , 2017, Human molecular genetics.
[62] Bireswar Laha,et al. Regenerating optic pathways from the eye to the brain , 2017, Science.
[63] M. Votruba,et al. Childhood-onset Leber hereditary optic neuropathy , 2017, British Journal of Ophthalmology.
[64] Matthew J. Daniels,et al. Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations , 2017, Neurology.
[65] A. Munnich,et al. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy , 2016, Journal of Medical Genetics.
[66] Valérie Biousse,et al. Diagnosis and clinical features of common optic neuropathies , 2016, The Lancet Neurology.
[67] S. Benes,et al. Stem Cell Ophthalmology Treatment Study (SCOTS): bone marrow-derived stem cells in the treatment of Leber's hereditary optic neuropathy , 2016, Neural regeneration research.
[68] P. Barboni,et al. A neurodegenerative perspective on mitochondrial optic neuropathies , 2016, Acta Neuropathologica.
[69] G. Lenaers,et al. WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity. , 2016, Ophthalmology.
[70] C. Chen,et al. Long-term outcomes of gene therapy for the treatment of Leber's hereditary optic neuropathy , 2016, EBioMedicine.
[71] W. Feuer,et al. Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. , 2016, Ophthalmology.
[72] C. Chen,et al. Efficacy and Safety of rAAV2-ND4 Treatment for Leber’s Hereditary Optic Neuropathy , 2016, Scientific Reports.
[73] Robert W. Taylor,et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation , 2015, Journal of Medical Genetics.
[74] R. Schüle,et al. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder , 2015, Nature Genetics.
[75] Robert W. Taylor,et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease , 2015, Annals of neurology.
[76] V. Desquiret-Dumas,et al. Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. , 2014, Brain : a journal of neurology.
[77] P. Chinnery,et al. Dominant optic atrophy: novel OPA1 mutations and revised prevalence estimates. , 2013, Ophthalmology.
[78] P. Chinnery,et al. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy , 2012, Brain : a journal of neurology.
[79] P. Barboni,et al. Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy. , 2012, Archives of neurology.
[80] P. Chinnery,et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy , 2011, Brain : a journal of neurology.
[81] Giovanni Rizzo,et al. Idebenone treatment in Leber's hereditary optic neuropathy. , 2011, Brain : a journal of neurology.
[82] P. Chinnery,et al. Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies , 2011, Progress in Retinal and Eye Research.
[83] Robert W. Taylor,et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. , 2010, Ophthalmology.
[84] P. Plevani,et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28 , 2010, Nature Genetics.
[85] D. Turnbull,et al. Multi-system neurological disease is common in patients with OPA1 mutations , 2010, Brain : a journal of neurology.
[86] P. Chinnery,et al. Quality of life in patients with leber hereditary optic neuropathy. , 2009, Investigative ophthalmology & visual science.
[87] F. Baas,et al. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2 , 2006, Annals of neurology.
[88] J. Trobe. Walsh & Hoyt??s Clinical Neuro-Ophthalmology, 6th Edition , 2005 .
[89] M. T. Bhatti,et al. Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite. , 2005, American journal of ophthalmology.
[90] V. Carelli,et al. Mitochondrial dysfunction as a cause of optic neuropathies , 2004, Progress in Retinal and Eye Research.
[91] D. Turnbull,et al. The epidemiology of Leber hereditary optic neuropathy in the North East of England. , 2003, American journal of human genetics.
[92] E. Schon,et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy , 2002, Annals of neurology.
[93] Sergio Cocozza,et al. Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease , 1998, Cell.
[94] D. Vetrie,et al. A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness , 1996, Nature Genetics.
[95] P. Patel,et al. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion , 1996, Science.
[96] M. Sanders,et al. The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. , 1995, Brain : a journal of neurology.
[97] OUP accepted manuscript , 2022, Brain.
[98] Albert and Jakobiec's Principles and Practice of Ophthalmology , 2020 .
[99] P. Chinnery,et al. Disturbed mitochondrial dynamics and neurodegenerative disorders , 2015, Nature Reviews Neurology.
[100] D. Manners,et al. Visual system involvement in patients with Friedreich's ataxia. , 2009, Brain : a journal of neurology.