(Q42587132)

English

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy

scientific article published on July 1996

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scholarly article

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Leber hereditary optic neuropathy

1 reference

based on heuristic

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author name string

A Torroni

1

1 reference

Europe PubMed Central

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16 October 2019

V Carelli

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M Petrozzi

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

M Terracina

4

1 reference

Europe PubMed Central

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16 October 2019

P Barboni

5

1 reference

Europe PubMed Central

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16 October 2019

P Malpassi

6

1 reference

Europe PubMed Central

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16 October 2019

D C Wallace

7

1 reference

Europe PubMed Central

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16 October 2019

R Scozzari

8

1 reference

Europe PubMed Central

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16 October 2019

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publication date

1 July 1996

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Europe PubMed Central

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16 October 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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16 October 2019

59

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Europe PubMed Central

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16 October 2019

1

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16 October 2019

248-252

1 reference

Europe PubMed Central

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16 October 2019

Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Leber's hereditary optic neuropathy. New genetic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Asian affinities and continental radiation of the four founding Native American mtDNAs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

mtDNA mutations in Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

28 May 2018

Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915130

3 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients. Cuba Neuropathy Field Investigation Team

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy among Japanese

1 reference

https://pubmed.ncbi.nlm.nih.gov/8659531

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8659531%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

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