Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome. (Q33673825)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8071952%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome (English)

1 reference

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hereditary optic neuropathy

24 October 2019

main subject

1 reference

1 reference

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24 October 2019

P A Bolhuis

1 reference

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24 October 2019

F A Wijburg

series ordinal

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24 October 2019

G Zorn-Ende

series ordinal

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24 October 2019

E M Bleeker-Wagemakers

series ordinal

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24 October 2019

language of work or name

English

0 references

publication date

1 April 1994

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Journal of Medical Genetics

24 October 2019

published in

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24 October 2019

volume

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24 October 2019

issue

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24 October 2019

page(s)

280-286

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Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows

24 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

Neurological studies in families with 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=1049799

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=1049799

Rapid segregation of heteroplasmic bovine mitochondria

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

Studies on Leber's optic neuropathy III.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

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=1049799

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=1049799

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=1049799

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) 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=1049799

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with 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=1049799

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor 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=1049799

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=1049799

Segregation of mitochondrial genomes in a heteroplasmic lineage 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=1049799

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=1049799

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=1049799

X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

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=1049799

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

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=1049799

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049799

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=1049799

Cytochrome b mutations 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=1049799

Mitochondrial DNA analysis of Leber's hereditary optic neuropathy

30 October 2018

1 reference

12 December 2020

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

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

Mitochondrial DNA analysis as a diagnostic tool in singleton cases of Leber's hereditary optic neuropathy

1 reference

12 December 2020

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER ASSOCIATED WITH LEBER'S OPTIC ATROPHY. GENETICAL ASPECTS

1 reference

12 December 2020

The genetics of Leber's optic atrophy and its neurological sequelae

1 reference

12 December 2020

The inheritance of Leber's disease. A genealogical follow-up study

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.31.4.280

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8071952%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8071952%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

8071952

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8071952%20AND%20SRC:MED&resulttype=core&format=json