(Q33675684)

28 July 2017

1 reference

title

Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations (English)

1 reference

hereditary optic neuropathy

28 July 2017

0 references

1 reference

Riordan-Eva P

1

1 reference

PubMed ID

7760326

28 July 2017

Harding AE

series ordinal

2

1 reference

PubMed ID

7760326

28 July 2017

language of work or name

English

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publication date

1 February 1995

1 reference

Journal of Medical Genetics

28 July 2017

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28 July 2017

32

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28 July 2017

2

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28 July 2017

81-87

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LEBER'S DISEASE WITH SYMPTOMS RESEMBLING DISSEMINATED SCLEROSIS

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic atrophy: some clinical and aetiological considerations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic neuropathy. New genetic considerations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Further clinical and pathological observations on Leber's optic atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

The heart in Leber's optic atrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's optic atrophy, a possible example of maternal inheritance.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Ocular Fundus in Acute Leber Optic Neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Familial dystonia and visual failure with striatal CT lucencies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Magnetic resonance imaging in Leber's optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Variable genotype of Leber's hereditary optic neuropathy patients.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Mitochondrial genetics: principles and practice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Atypical Leber's hereditary optic neuropathy with molecular confirmation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Magnetic resonance imaging in monitoring the treatment of multiple sclerosis patients: statistical power of parallel-groups and crossover designs.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Leber's hereditary optic atrophy: a possible defect of cyanide metabolism.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Cytochrome b mutations in Leber hereditary optic neuropathy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050224

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation

1 reference

12 December 2020

Plasma-cobalamins in neuro-ophthalmological diseases

1 reference

12 December 2020

Charcot-Marie-Tooth disease with Leber optic atrophy

1 reference

12 December 2020

Ophthalmoscopic findings in Leber's hereditary optic neuropathy. II. The fundus findings in the affected family members

1 reference

12 December 2020

Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a mitochondrial disease?

1 reference

12 December 2020

Pre-excitation syndrome and Leber's hereditary optic neuroretinopathy

1 reference

12 December 2020

Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation

1 reference

12 December 2020

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

12 December 2020

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

12 December 2020

A maculopathy associated with the 15257 mitochondrial DNA mutation

1 reference

12 December 2020

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Association of the 11778 mitochondrial DNA mutation and demyelinating disease

1 reference

12 December 2020

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.2.81

1 reference

28 July 2017

1 reference

28 July 2017

1 reference

PubMed ID

7760326