(Q42590475)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755941%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

title

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy (English)

1 reference

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18 October 2019

2

1 reference

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18 October 2019

Joanna Poulton

6

1 reference

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18 October 2019

author name string

Mackey DA

1

1 reference

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18 October 2019

Rosenberg T

3

1 reference

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18 October 2019

Nikoskelainen E

4

1 reference

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18 October 2019

Bronte-Stewart J

5

1 reference

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18 October 2019

Harding AE

7

1 reference

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18 October 2019

Govan G

8

1 reference

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18 October 2019

Bolhuis PA

9

1 reference

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18 October 2019

Norby S

10

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18 October 2019

language of work or name

English

0 references

publication date

1 August 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755941%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

18 October 2019

published in

1 reference

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18 October 2019

volume

59

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18 October 2019

issue

2

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18 October 2019

page(s)

481-485

1 reference

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Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients.

18 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=1914749

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914749

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=1914749

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

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914749

Features of mtDNA mutation patterns in European pedigrees and sporadic cases 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=1914749

1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914749

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914749

Leber's "plus": neurological abnormalities in patients 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=1914749

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=1914749

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=1914749

Mitochondrial DNA complex I and III mutations 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=1914749

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914749

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=1914749

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=1914749

High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy

28 May 2018

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Sporadic Leber hereditary optic neuropathy in Australia and New Zealand

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755941%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8755941

1 reference