(Q30575264)

English

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome

scientific article

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scholarly article

1 reference

Europe PubMed Central

21 August 2017

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome (English)

1 reference

Europe PubMed Central

21 August 2017

mitochondrial DNA

0 references

mitochondrial encephalomyopathy

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

author name string

Valentina Emmanuele

1

1 reference

Europe PubMed Central

21 August 2017

Evangelia Sotiriou

2

1 reference

Europe PubMed Central

21 August 2017

Purificación Gutierrez Rios

3

1 reference

Europe PubMed Central

21 August 2017

Jaya Ganesh

4

1 reference

Europe PubMed Central

21 August 2017

Rebecca Ichord

5

1 reference

Europe PubMed Central

21 August 2017

A Reghan Foley

6

1 reference

Europe PubMed Central

21 August 2017

H Orhan Akman

7

1 reference

Europe PubMed Central

21 August 2017

Salvatore Dimauro

8

1 reference

Europe PubMed Central

21 August 2017

publication date

25 May 2012

1 reference

Europe PubMed Central

21 August 2017

Journal of Child Neurology

1 reference

Europe PubMed Central

21 August 2017

28

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Europe PubMed Central

21 August 2017

2

1 reference

Europe PubMed Central

21 August 2017

236-242

1 reference

Europe PubMed Central

21 August 2017

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Exercise intolerance due to cytochrome b mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Arterial spin labeling perfusion MRI in pediatric arterial ischemic stroke: initial experiences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Pediatric perfusion MR imaging using arterial spin labeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory Chain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Cytochrome c oxidase deficiency in Leigh syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3973035

20 June 2018

Functional characterization of novel mutations in the human cytochrome b gene.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

Antimycin A resistance in a mutant Leishmania tarentolae strain is correlated to a point mutation in the mitochondrial apocytochrome b gene.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

Endothelial dysfunction in MELAS improved by l-arginine supplementation.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

Beneficial effect of L-arginine for stroke-like episode in MELAS.

1 reference

https://api.crossref.org/works/10.1177%2F0883073812445787

21 January 2018

A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical heterogeneity in respiratory chain complex III deficiency in childhood

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polymorphic variants in the human mitochondrial cytochrome b gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/22638077

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1177/0883073812445787

1 reference

Europe PubMed Central

21 August 2017

release_p6mko5myh5harkxwlo3ijrbxhu

1 reference

https://api.fatcat.wiki/v0/release/p6mko5myh5harkxwlo3ijrbxhu

24 November 2022

based on heuristic

mapped directly with Wikidata item

1 reference

Europe PubMed Central

21 August 2017

1 reference

Europe PubMed Central

21 August 2017

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