(Q42008013)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Robert McFarland

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Robert William Taylor

series ordinal

3

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

4

Joanna L Elson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

7 July 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

page(s)

533-538

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial tRNA mutations and disease

7 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Mitochondrial genome sequences effectively reveal the phylogeny of Hylobates gibbons

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Evolutionary history of chimpanzees inferred from complete mitochondrial genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Mitochondrial evidence for multiple radiations in the evolutionary history of small apes.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

The diversity present in 5140 human mitochondrial genomes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

tRNAdb 2009: compilation of tRNA sequences and tRNA genes

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Clustal W and Clustal X version 2.0

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Human mitochondrial tRNAs in health and disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Mitochondrial DNA mutations in human disease.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3510436

Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22781547

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/22781547

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22781547

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.MITO.2012.06.009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

PubMed publication ID

22781547

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22781547%20AND%20SRC:MED&resulttype=core&format=json