International Consensus Statement on the Clinical and Therapeutic Management of Leber Hereditary Optic Neuropathy
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N. Newman | C. Orssaud | P. Barboni | M. Carbonelli | M. Votruba | W. Lagrèze | C. La Morgia | P. Yu-Wai-Man | V. Carelli | A. Sadun | T. Klopstock | C. Vignal-Clermont | A. Kawasaki | I. D. de Coo | J. Pott | J. van Everdingen | Irenaeus F. M. de Coo
[1] P. Yu-Wai-Man,et al. Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy , 2017, Mitochondrion.
[2] P. Barboni,et al. A neurodegenerative perspective on mitochondrial optic neuropathies , 2016, Acta Neuropathologica.
[3] P. Chinnery,et al. Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. , 2016, Brain : a journal of neurology.
[4] C. La Morgia,et al. Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways , 2015, Cell Death and Disease.
[5] G. Savini,et al. Macular nerve fibre and ganglion cell layer changes in acute Leber's hereditary optic neuropathy , 2015, British Journal of Ophthalmology.
[6] Robert W. Taylor,et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease , 2015, Annals of neurology.
[7] P. Chinnery,et al. Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients , 2014, Orphanet Journal of Rare Diseases.
[8] C. La Morgia,et al. Genetic Basis of Mitochondrial Optic Neuropathies. , 2014, Current molecular medicine.
[9] M. Votruba,et al. Treatment strategies for inherited optic neuropathies: past, present and future , 2014, Eye.
[10] Jorn-Hon Liu,et al. Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery , 2014, Clinical & experimental optometry.
[11] M. Zeviani,et al. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber’s hereditary optic neuropathy , 2013, Brain : a journal of neurology.
[12] T. Klopstock,et al. Effects of Idebenone on Color Vision in Patients With Leber Hereditary Optic Neuropathy , 2013, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[13] V. Carelli,et al. Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy. , 2012, Investigative ophthalmology & visual science.
[14] N. Newman. Treatment of hereditary optic neuropathies , 2012, Nature Reviews Neurology.
[15] J. Sebag,et al. Neuron-specific enolase is elevated in asymptomatic carriers of Leber's hereditary optic neuropathy. , 2012, Investigative ophthalmology & visual science.
[16] N. Gueven,et al. Idebenone Protects against Retinal Damage and Loss of Vision in a Mouse Model of Leber’s Hereditary Optic Neuropathy , 2012, PloS one.
[17] P. Chinnery,et al. Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy , 2012, Brain : a journal of neurology.
[18] M. Zeviani,et al. Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy , 2012, PloS one.
[19] B. Mascialino,et al. Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe , 2012, European journal of ophthalmology.
[20] N. Gueven,et al. Features of Idebenone and Related Short-Chain Quinones that Rescue ATP Levels under Conditions of Impaired Mitochondrial Complex I , 2012, PloS one.
[21] W. Feuer,et al. Retinal Nerve Fiber Layer Thickness Variability in Leber Hereditary Optic Neuropathy Carriers , 2012, European journal of ophthalmology.
[22] V. Giorgio,et al. The effects of idebenone on mitochondrial bioenergetics , 2012, Biochimica et biophysica acta.
[23] D. Milea,et al. Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration , 2011, BMC Research Notes.
[24] N. Newman. Treatment of Leber hereditary optic neuropathy. , 2011, Brain : a journal of neurology.
[25] A. Tselis,et al. Leber hereditary optic neuropathy mimicking neuromyelitis optica. , 2011, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[26] P. Chinnery,et al. A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy , 2011, Brain : a journal of neurology.
[27] Giovanni Rizzo,et al. Idebenone treatment in Leber's hereditary optic neuropathy. , 2011, Brain : a journal of neurology.
[28] P. Chinnery,et al. Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies , 2011, Progress in Retinal and Eye Research.
[29] N. Newman. Leber hereditary optic neuropathy: bad habits, bad vision? , 2009, Brain : a journal of neurology.
[30] P. Chinnery,et al. Gene–environment interactions in Leber hereditary optic neuropathy , 2009, Brain : a journal of neurology.
[31] G. Savini,et al. Association of optic disc size with development and prognosis of Leber's hereditary optic neuropathy. , 2009, Investigative ophthalmology & visual science.
[32] V. Carelli,et al. Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy. , 2007, Investigative ophthalmology & visual science.
[33] G. Savini,et al. Leber's hereditary optic neuropathy with childhood onset. , 2006, Investigative ophthalmology & visual science.
[34] M. T. Bhatti,et al. Progression of visual field defects in leber hereditary optic neuropathy: experience of the LHON treatment trial. , 2006, American journal of ophthalmology.
[35] V. Carelli,et al. Colour vision defects in asymptomatic carriers of the Leber’s hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree: a case-control study , 2006, British Journal of Ophthalmology.
[36] V. Carelli,et al. Mitochondrial dysfunction as a cause of optic neuropathies , 2004, Progress in Retinal and Eye Research.
[37] V. Carelli,et al. Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy. , 2003, American journal of ophthalmology.
[38] M. Wakakura,et al. Do Idebenone and Vitamin Therapy Shorten the Time to Achieve Visual Recovery in Leber Hereditary Optic Neuropathy? , 2000, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.
[39] P. Barboni,et al. Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient , 1998, Journal of the Neurological Sciences.
[40] P. Zaniol,et al. Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study , 1997, Journal of the Neurological Sciences.
[41] K. Huoponen,et al. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. , 1996, Ophthalmology.
[42] 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.
[43] N. Miller,et al. Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia. , 1993, Archives of ophthalmology.
[44] Y. Mashima,et al. Remission of Leber's hereditary optic neuropathy with idebenone , 1992, The Lancet.
[45] N. Newman,et al. Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. , 1992, Journal of clinical neuro-ophthalmology.
[46] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[47] W. Hoyt,et al. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members. , 1983, Archives of ophthalmology.
[48] W. Hoyt,et al. Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members. , 1982, Archives of ophthalmology.
[49] Erickson Rp. Leber's optic atrophy, a possible example of maternal inheritance. , 1972 .
[50] P. Barboni,et al. Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion. , 2016, Brain : a journal of neurology.
[51] A. Martinuzzi,et al. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. , 2011, Brain : a journal of neurology.
[52] R. Sergott. Natural History of Leber's Hereditary Optic Neuropathy: Longitudinal Analysis of the Retinal Nerve Fiber Layer by Optical Coherence Tomography , 2010 .
[53] G. Savini,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in unaffected carriers with Leber's hereditary optic neuropathy mutations. , 2005, Ophthalmology.
[54] G. Savini,et al. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. , 2005, Ophthalmology.
[55] R. Erickson. Leber's optic atrophy, a possible example of maternal inheritance. , 1972, American journal of human genetics.