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Mitochondrial genetic diseases.
scientific article published on December 2010
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scholarly article
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
title
Mitochondrial genetic diseases
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
author
Marni Falk
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
author name string
Neal Sondheimer
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
publication date
1 December 2010
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
published in
Current Opinion in Pediatrics
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
volume
22
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
issue
6
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
page(s)
711-716
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
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Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
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Ophthalmological findings in children and young adults with genetically verified mitochondrial disease
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Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects
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Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
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Next generation sequence analysis for mitochondrial disorders
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30 September 2017
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
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Mitochondrial gene replacement in primate offspring and embryonic stem cells
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Preimplantation genetic diagnosis for mitochondrial DNA disorders: ethical guidance for clinical practice
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30 September 2017
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
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Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia
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30 September 2017
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease
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30 September 2017
Endurance exercise is protective for mice with mitochondrial myopathy
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30 September 2017
The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency
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30 September 2017
Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia
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Short hairpin RNA-mediated silencing of PRC (PGC-1-related coactivator) results in a severe respiratory chain deficiency associated with the proliferation of aberrant mitochondria
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30 September 2017
Value of brain magnetic resonance imaging in mitochondrial respiratory chain disorders.
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20 September 2018
Reproductive decision-making in the context of mitochondrial DNA disorders: views and experiences of professionals
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20 September 2018
Butin reduces oxidative stress-induced mitochondrial dysfunction via scavenging of reactive oxygen species
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20 September 2018
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders.
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20 September 2018
Optimizing muscle biopsy for the diagnosis of mitochondrial myopathy.
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20 September 2018
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20 September 2018
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
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20 September 2018
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
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PubMed Central
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20 September 2018
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction
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20 September 2018
Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study
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20 September 2018
Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3586258
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20 September 2018
The investigation and diagnosis of pathogenic mitochondrial DNA mutations in human urothelial cells
1 reference
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PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21045694
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/21045694
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1097/MOP.0B013E3283402E21
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
PMCID
3586258
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
PubMed ID
21045694
1 reference
stated in
Europe PubMed Central
PMCID
3586258
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21045694%20AND%20SRC:MED&resulttype=core&format=json
retrieved
15 January 2020
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