(Q30476620)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

title

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Richard J Rodenburg

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Lambert P van den Heuvel

11

object named as

Lambert van den Heuvel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

8

Jan Smeitink

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

3

Eva Morava

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

9

Leo Nijtmans

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Mariël A M van den Brand

4

object named as

Mariël van den Brand

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

5

Frans van den Brandt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

author name string

Sandy Mattijssen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Frits Wijburg

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

Ger Pruijn

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

publication date

7 October 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

9 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

volume

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

page(s)

324-329

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

9 February 2020

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2987211/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

Electrophoresis techniques to investigate defects in oxidative phosphorylation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

A functionally dominant mitochondrial DNA mutation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Mitochondrial myopathy associated with a novel mutation in mtDNA.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Post-transcriptional nucleotide modification and alternative folding of RNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Some practical aspects of providing a diagnostic service for respiratory chain defects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Human NADH:ubiquinone oxidoreductase

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Search for characteristic structural features of mammalian mitochondrial tRNAs.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Compilation of tRNA sequences and sequences of tRNA genes

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Mitochondrial DNA mutations and pathogenesis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Mitochondria-mediated transformation of human rho(0) cells

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Transfer RNA contains sites of localized positive charge: carbon NMR studies of [13C]methyl-enriched Escherichia coli and yeast tRNAPhe

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987211

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

20 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.169

A new mitochondrial DNA mutation associated with progressive dementia and chorea: A clinical, pathological, and molecular genetic study

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19809478

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.169

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19809478%20AND%20SRC:MED&resulttype=core&format=json

9 February 2020

PubMed publication ID

19809478

1 reference