(Q84230483)

English

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

scientific article published on 26 May 2012

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

9

object named as

Isidre Ferrer

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

author name string

María del Mar O'Callaghan

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sonia Emperador

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Ester López-Gallardo

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Cristina Jou

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Nuria Buján

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Raquel Montero

6

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Angels Garcia-Cazorla

7

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Diana Gonzaga

8

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Paz Briones

10

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Eduardo Ruiz-Pesini

11

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Mercè Pineda

12

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Rafael Artuch

13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Julio Montoya

14

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

publication date

26 May 2012

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

245-250

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

https://scigraph.springernature.com/pub.10.1007/s10048-012-0322-0

0 references

Peripheral neuropathy in genetic mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disease criteria: Diagnostic applications in children

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Developing a systematic approach to the diagnosis and classification of mitochondrial disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA mutations: clinical and functional perturbations

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disorder associated with newborn cardiopulmonary arrest

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnostic criteria for respiratory chain disorders in adults and children.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mtDNA point mutation in maternally inherited cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neuroimaging of mitochondrial disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutations in human disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A functionally dominant mitochondrial DNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638997

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-012-0322-0

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22638997%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q84230483&oldid=2081582106"