(Q36105214)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

title

Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Robert McFarland

series ordinal

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

Robert William Taylor

series ordinal

12

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

11

Emma L Blakely

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1

Helen A L Tuppen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

4

Mazhor Al-Dosary

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

2

Karin Naess

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

3

Nancy G Kennaway

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

5

Nicole Lesko

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

8

Rolf Wibom

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

9

Inger Nennesmo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

10

Richard G Weleber

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

author name string

Helene Bruhn

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

publication date

29 February 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

24 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

volume

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

page(s)

897-904

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families

24 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Mitochondrial DNA defects and selective extraocular muscle involvement in CPEO.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Mitochondrial haplotypes may modulate the phenotypic manifestation of the deafness-associated 12S rRNA 1555A>G mutation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Electrophoresis techniques to investigate defects in oxidative phosphorylation

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Prevalence of mitochondrial DNA disease in adults

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Molecular pathogenetic mechanism of maternally inherited deafness

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

A switch in metabolism precedes increased mitochondrial biogenesis in respiratory chain-deficient mouse hearts

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Mitochondrial DNA mutations in human disease.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

34 Preparation and properties of complex V

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

A novel mutation in the mitochondrial tRNA(Ser(AGY)) gene associated with mitochondrial myopathy, encephalopathy, and complex I deficiency

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3400738

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

2 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Progressive mitochondrial myopathy, deafness, and sporadic seizures associated with a novel mutation in the mitochondrial tRNASer(AGY) gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Measurement of ATP production and respiratory chain enzyme activities in mitochondria isolated from small muscle biopsy samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Secondary metabolic effects in complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

A pathogenesis-associated mutation in human mitochondrial tRNALeu(UUR) leads to reduced 3'-end processing and CCA addition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Towards understanding human mitochondrial leucine aminoacylation identity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Familial myopathy: new insights into the T14709C mitochondrial tRNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Isoleucyl-tRNA synthetase levels modulate the penetrance of a homoplasmic m.4277T>C mitochondrial tRNA(Ile) mutation causing hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

Mitochondrial dysfunction in hearing loss

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2012.44

21 January 2018

Mitochondrial deafness

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mitochondrial diabetes: investigation and identification of a novel mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Proving pathogenicity: when evolution is not enough

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22378285

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2012.44

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json

24 January 2020

PubMed publication ID

22378285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22378285%20AND%20SRC:MED&resulttype=core&format=json