(Q35194942)

7 August 2017

title

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

1 reference

Leber hereditary optic neuropathy

7 August 2017

main subject

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D R Johns

1

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7 August 2017

M J Neufeld

series ordinal

2

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7 August 2017

language of work or name

English

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publication date

1 October 1993

1 reference

American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

53

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7 August 2017

issue

4

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7 August 2017

page(s)

916-920

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Leber's hereditary optic neuropathy. New genetic considerations

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Sequence and organization of the human mitochondrial genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

Cytochrome b mutations in Leber hereditary optic neuropathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682383

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

27 September 2018

1 reference

12 December 2020

Improved molecular-genetic diagnosis of Leber's hereditary optic neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees

1 reference

12 December 2020

Identifiers

PMC publication ID

1682383

1 reference

7 August 2017

1 reference