(Q24676021)

English

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

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Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644732%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

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

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644732%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

0 references

Leber hereditary optic neuropathy

1 reference

based on heuristic

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D D De Vries

1

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16 October 2019

L N Went

2

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16 October 2019

G W Bruyn

3

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16 October 2019

H R Scholte

4

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16 October 2019

R M Hofstra

5

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16 October 2019

P A Bolhuis

6

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16 October 2019

B A van Oost

7

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16 October 2019

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1 April 1996

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16 October 2019

American Journal of Human Genetics

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16 October 2019

58

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16 October 2019

4

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16 October 2019

703-711

1 reference

Europe PubMed Central

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16 October 2019

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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=1914692

7 April 2017

Mitochondrial DNA complex I and III mutations 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=1914692

7 April 2017

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=1914692

7 April 2017

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

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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=1914692

7 April 2017

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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=1914692

7 April 2017

Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

Alternative, simultaneous complex I mitochondrial DNA 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=1914692

7 April 2017

Normal variants of human mitochondrial DNA and translation products: the building of a reference data base

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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=1914692

7 April 2017

Sequence and gene organization of mouse mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

7 April 2017

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=1914692

28 September 2017

Complete sequence of a sea lamprey (Petromyzon marinus) mitochondrial genome: early establishment of the vertebrate genome organization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Familial dystonia and visual failure with striatal CT lucencies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Organelle gene diversity under migration, mutation, and drift: equilibrium expectations, approach to equilibrium, effects of heteroplasmic cells, and comparison to nuclear genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Genetic heterogeneity and mitochondrial DNA heteroplasmy 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=1914692

28 September 2017

Segregation of mitochondrial genomes in a heteroplasmic lineage 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=1914692

28 September 2017

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Replacement of bovine mitochondrial DNA by a sequence variant within one generation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

The mitochondrial genomes of two nematodes, Caenorhabditis elegans and Ascaris suum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

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=1914692

28 September 2017

Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families 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=1914692

28 September 2017

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

The mitochondrial DNA molecular of Drosophila yakuba: nucleotide sequence, gene organization, and genetic code

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 September 2017

The complete nucleotide sequence of the Xenopus laevis mitochondrial genome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Structure and organization of Marchantia polymorpha chloroplast genome. IV. Inverted repeat and small single copy regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Nucleotide sequence and gene organization of sea urchin mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Defects in oxidative phosphorylation. Biochemical investigations in skeletal muscle and expression of the lesion in other cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

The generation of transplasmic Drosophila simulans by cytoplasmic injection: effects of segregation and selection on the perpetuation of mitochondrial DNA heteroplasmy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Complete replacement of mitochondrial DNA in Drosophila

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

The complete nucleotide sequence of the Rattus norvegicus mitochondrial genome: cryptic signals revealed by comparative analysis between vertebrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) 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=1914692

30 May 2018

Rapid shift in genotype of human mitochondrial DNA in a family 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=1914692

30 May 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Hereditary spastic dystonia: a new mitochondrial encephalopathy? Putaminal necrosis as a diagnostic sign.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

The complete nucleotide sequence of the mitochondrial DNA of the fin whale,Balaenoptera physalus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Leber's hereditary optic neuropathy and complex I deficiency in muscle.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees 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=1914692

30 May 2018

The complete mitochondrial DNA sequence of the harbor seal, Phoca vitulina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Hereditary spastic dystonia with Leber's hereditary optic neuropathy: neuropathological findings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Electron transfer complex I defect in idiopathic dystonia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

Mitochondrial gene segregation in mammals: is the bottleneck always narrow?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

30 May 2018

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. I. CLINICAL STUDIES.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 November 2018

Mitochondrial DNA of the sea anemone, Metridium senile (Cnidaria): prokaryote-like genes for tRNA(f-Met) and small-subunit ribosomal RNA, and standard genetic code specificities for AGR and ATA codons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914692

28 November 2018

Functional alterations of the mitochondrially encoded ND4 subunit 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=1914692

28 November 2018

A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family 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=1914692

28 November 2018

Cytochrome b mutations in 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=1914692

28 November 2018

Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cerebellar ataxia in patients with Leber's hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of extremely low levels of wild-type mitochondrial DNA in the liver of a patient with Pearson syndrome by a sensitive PCR assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Riboflavin-responsive complex I deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Respiratory chain function in Leber's hereditary optic neuropathy: lack of correlation with clinical disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A SEX-LINKED HEREDO-DEGENERATIVE NEUROLOGICAL DISORDER, ASSOCIATED WITH LEBER'S OPTIC ATROPHY. II. LABORATORY INVESTIGATIONS

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial mutation in fatal infantile cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leber's disease and dystonia: a mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

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

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Platelet mitochondrial function in Leber's hereditary optic neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/8644732

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644732%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8644732%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

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