Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation (Q72165050)

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scientific article published on 01 September 1994

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Language	Label	Description	Also known as
English	Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation	scientific article published on 01 September 1994

Statements

instance of

scholarly article

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

title

Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation (English)

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

main subject

hereditary optic neuropathy

1 reference

based on heuristic

inferred from title

author

Roelof-Jan Oostra

series ordinal

1

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

author name string

P A Bolhuis

series ordinal

2

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

I Zorn-Ende

series ordinal

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

M M de Kok-Nazaruk

series ordinal

4

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

E M Bleeker-Wagemakers

series ordinal

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

publication date

1 September 1994

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

published in

Human Genetics

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

volume

94

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

issue

3

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

page(s)

265-270

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

cites work

Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy. New genetic considerations

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable genotype of Leber's hereditary optic neuropathy patients.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome b mutations in Leber hereditary optic neuropathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A maculopathy associated with the 15257 mitochondrial DNA mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heteroplasmy in Leber's hereditary optic neuropathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diseases of the mitochondrial DNA.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's hereditary optic neuropathy. Clinical manifestations of the 3460 mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/8076942

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/BF00208281

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

PubMed publication ID

8076942

1 reference

stated in

Europe PubMed Central

PubMed publication ID

8076942

reference URL

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8076942%20AND%20SRC:MED&resulttype=core&format=json

retrieved

24 October 2019

 

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