(Q48056181)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations (English)

1 reference

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12 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Charlotte L Alston

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Robert McFarland

series ordinal

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Robert William Taylor

series ordinal

5

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

3

Emma L Blakely

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

6

Joanna L Elson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

2

Mazhor Al-Dosary

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

publication date

19 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

32

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

issue

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

page(s)

1319-1325

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21882289%20AND%20SRC:MED&resulttype=core&format=json

Sequence and organization of the human mitochondrial genome

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Exaggerated status of "novel" and "pathogenic" mtDNA sequence variants due to inadequate database searches

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial DNA mutations in human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Maternal inheritance of human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Search for characteristic structural features of mammalian mitochondrial tRNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

An enhanced MITOMAP with a global mtDNA mutational phylogeny

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial DNA mutations and pathogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial DNA mutations in human colonic crypt stem cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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/10.1002%2FHUMU.21575

Mitochondrial DNA mutations in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial DNA mutations and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

mtDNA tree Build 17 (18 Feb 2016)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Diseases of the mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial tRNA mutations and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

Mitochondrial encephalomyopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

7 January 2021

Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

7 January 2021

A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

7 January 2021

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

7 January 2021

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21575

7 January 2021