(Q42558110)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977345%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

title

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

1 reference

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29 October 2019

6

1 reference

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29 October 2019

author name string

Obermaier-Kusser B

1

1 reference

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29 October 2019

Lorenz B

2

1 reference

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29 October 2019

Schubring S

3

1 reference

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29 October 2019

Paprotta A

4

1 reference

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29 October 2019

Zerres K

5

1 reference

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29 October 2019

Meire F

7

1 reference

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29 October 2019

Cochaux P

8

1 reference

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29 October 2019

Blankenagel A

9

1 reference

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29 October 2019

Kommerell G

10

1 reference

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29 October 2019

language of work or name

English

0 references

publication date

1 November 1994

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977345%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

29 October 2019

published in

1 reference

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29 October 2019

volume

55

1 reference

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29 October 2019

issue

5

1 reference

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29 October 2019

page(s)

1063-1066

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977345%20AND%20SRC:MED&resulttype=core&format=json

LEBER'S DISEASE IN THE NETHERLANDS.

29 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=1918326

Leber's hereditary optic neuropathy. New genetic considerations

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

Variable genotype of Leber's hereditary optic neuropathy patients.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

Diseases of the mitochondrial DNA.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

Leber’s Hereditary Optic Neuroretinopathy and the X-Chromosomal Susceptibility Factor: No Linkage to DXS7

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918326

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

1 December 2018

1 reference

12 December 2020

No genetic differences between affected and unaffected members of a German family with Leber's hereditary optic neuropathy (LHON) with respect to ten mtDNA point mutations associated with LHON

1 reference

12 December 2020

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

1 reference

12 December 2020

The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees

1 reference

12 December 2020

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7977345%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

7977345

1 reference