(Q34386122)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA (English)

1 reference

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12 November 2019

1 reference

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12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

A H Schapira

1 reference

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12 November 2019

M G Hanna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

John A. Morgan-Hughes

object named as

J A Morgan-Hughes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

S Rahman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

R J Lane

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

J Land

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

S Heales

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

M J Cooper

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 July 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

12 November 2019

published in

1 reference

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12 November 2019

volume

1 reference

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12 November 2019

issue

1 reference

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12 November 2019

page(s)

29-36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy

12 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Mitochondrial DNA mutations and pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Reversal of a mitochondrial DNA defect in human skeletal muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals--and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Congenital encephalomyopathy and adult-onset myopathy and diabetes mellitus: different phenotypic associations of a new heteroplasmic mtDNA tRNA glutamic acid mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Sequence and organization of the human mitochondrial genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Maternal inheritance of human mitochondrial DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

The clinical features of mitochondrial myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Duplications of mitochondrial DNA in mitochondrial myopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Exercise intolerance, lactic acidosis, and abnormal cardiopulmonary regulation in exercise associated with adult skeletal muscle cytochrome c oxidase deficiency

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Structure and function of cytochrome c oxidase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre syndrome to her child

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Subunit III of cytochrome c oxidase is not involved in proton translocation: a site-directed mutagenesis study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Rapid evolution of animal mitochondrial DNA

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377234

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

27 October 2018

1 reference

12 December 2020

Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome

1 reference

12 December 2020

Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

1 reference

12 December 2020

Strand asymmetry in human mitochondrial DNA mutations

1 reference

12 December 2020

Involvement of cytochrome c oxidase subunit III in energy coupling

1 reference

12 December 2020

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA

1 reference

12 December 2020

Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR

1 reference

12 December 2020

Mitochondrial disorders

1 reference

12 December 2020

RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS

1 reference

12 December 2020

Identifiers

DOI

10.1086/301910

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

PubMed publication ID

9634511

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9634511%20AND%20SRC:MED&resulttype=core&format=json