(Q38040328)

27 August 2017

title

Treatment of hereditary optic neuropathies (English)

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27 August 2017

Nancy J Newman

1

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27 August 2017

language of work or name

English

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publication date

4 September 2012

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27 August 2017

published in

Nature Reviews Neurology

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27 August 2017

volume

8

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27 August 2017

issue

10

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27 August 2017

page(s)

545-556

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Mitochondrial dysfunction as a cause of optic neuropathies

27 August 2017

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Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

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Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders

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The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies

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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

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Minocycline, a possible neuroprotective agent in Leber's hereditary optic neuropathy (LHON): studies of cybrid cells bearing 11,778 mutation

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mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A.

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Protection against oxidant-induced apoptosis by exogenous glutathione in Leber hereditary optic neuropathy cybrids

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Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

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Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy.

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Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy?

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

21 January 2018

12 December 2020

A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Treatment of Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acid

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Successful amelioration of mitochondrial optic neuropathy using the yeast NDI1 gene in a rat animal model

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

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21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Use of mitochondrial antioxidant defenses for rescue of cells with a Leber hereditary optic neuropathy-causing mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

SOD2 gene transfer protects against optic neuropathy induced by deficiency of complex I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Gene delivery to mitochondria by targeting modified adenoassociated virus suppresses Leber's hereditary optic neuropathy in a mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

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21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

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21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

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21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Allotopic expression of mitochondrial-encoded genes in mammals: achieved goal, undemonstrated mechanism or impossible task?

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes.

21 January 2018

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Progress and prospects: gene therapy for mitochondrial DNA disease

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Outcomes of the Veterans Affairs Low Vision Intervention Trial (LOVIT).

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Quality of life in patients with leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Gene-environment interactions in Leber hereditary optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber hereditary optic neuropathy: bad habits, bad vision?

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Transmission of mitochondrial DNA disorders: possibilities for the future.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Genetic counseling in Leber hereditary optic neuropathy (LHON).

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Pedigree analysis of French Canadian families with T14484C Leber's hereditary optic neuropathy.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber hereditary optic neuropathy in Australia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy.

21 January 2018

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber's hereditary optic neuropathy with childhood onset

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Evidence for a Novel X-Linked Modifier Locus for Leber Hereditary Optic Neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Autosomal dominant optic atrophy. A spectrum of disability.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Visual prognosis in autosomal dominant optic atrophy (Kjer type)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Reversible optic neuropathy with OPA1 exon 5b mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Treatment for mitochondrial disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Rapid visual recovery after coenzyme q10 treatment of leber hereditary optic neuropathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA)

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

[Response to idebenone and multivitamin therapy in Leber's hereditary optic neuropathy]

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Modulating mtDNA heteroplasmy by mitochondria-targeted restriction endonucleases in a 'differential multiple cleavage-site' model

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRNEUROL.2012.167

Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation

31 March 2020

1 reference

12 December 2020

Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families

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12 December 2020

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

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12 December 2020

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

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12 December 2020

The patients of Leber's optic atrophy should be treated neurosurgically3

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12 December 2020

Prophylaxis for second eye involvement in leber hereditary optic neuropathy: an open-labeled, nonrandomized multicenter trial of topical brimonidine purite

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12 December 2020

Gene therapy for mitochondrial disease by delivering restriction endonuclease SmaI into mitochondria

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12 December 2020

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology

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12 December 2020

The epidemiology of Leber hereditary optic neuropathy in the North East of England

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12 December 2020

Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese

1 reference

12 December 2020

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.

1 reference

12 December 2020

10.1038/NRNEUROL.2012.167

Identifiers

DOI

1 reference

Dimensions Publication ID

27 August 2017

1029687487

0 references

1 reference