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When does bilateral optic atrophy become Leber hereditary optic neuropathy?
scientific article published in October 1993
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
title
When does bilateral optic atrophy become Leber hereditary optic neuropathy?
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
main subject
optic atrophy
1 reference
based on heuristic
inferred from title
author name string
N Howell
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
S Halvorson
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
J Burns
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
D A McCullough
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
J Paulton
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
language of work or name
English
0 references
publication date
1 October 1993
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
volume
53
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
issue
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
page(s)
959-963
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
cites work
Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A simple method for displaying the hydropathic character of a protein
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
The detection and classification of membrane-spanning proteins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A conformational preference parameter to predict helices in integral membrane proteins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Evolutionary conservation of protein regions in the protonmotive cytochrome b and their possible roles in redox catalysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A critical evaluation of the hydropathy profile of membrane proteins.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
The sequence of human mtDNA: the question of errors versus polymorphisms
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Leber hereditary optic neuropathy in Australia
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Late onset Leber's optic neuropathy: a case confused with ischaemic optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
25 May 2018
Structure and expression of the overlapping ND4L and ND5 genes of Neurospora crassa mitochondria.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682377
retrieved
15 August 2018
Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8213825
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/8213825
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/8213825
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
PMC publication ID
1682377
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
PubMed publication ID
8213825
1 reference
stated in
Europe PubMed Central
PMC publication ID
1682377
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8213825%20AND%20SRC:MED&resulttype=core&format=json
retrieved
27 October 2019
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