(Q34323823)

1 August 2017

title

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome (English)

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1 August 2017

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Kearns-Sayre syndrome

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S Mita

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1 August 2017

B Schmidt

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1 August 2017

E A Schon

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1 August 2017

S DiMauro

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1 August 2017

E Bonilla

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1 August 2017

language of work or name

English

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publication date

1 December 1989

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Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

9509-9513

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Sequence and organization of the human mitochondrial genome

1 August 2017

cites work

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

Localization of the human insulin gene to the distal end of the short arm of chromosome 11.

6 July 2018

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Transcription of the mammalian mitochondrial genome

6 July 2018

1 reference

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

6 July 2018

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The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid.

6 July 2018

1 reference

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Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

Deletions of mitochondrial DNA 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=298526

Maternal genes: mitochondrial diseases.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

A direct repeat is a hotspot for large-scale deletion 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=298526

Mitochondrial DNA mutations and neuromuscular 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=298526

Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with 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=298526

Widespread expression of amyloid beta-protein precursor gene in rat brain

6 July 2018

1 reference

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Genetics of mitochondrial biogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

Lumping or splitting? "Ophthalmoplegia-plus" or 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=298526

Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=298526

A partial deficiency of cytochrome c oxidase 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=298526

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. I. Clinical, pathologic and biochemical characteristics

28 October 2018

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12 December 2020

Evidence for complete symmetrical transcription in vivo of mitochondrial DNA in HeLa cells

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12 December 2020

The tRNA genes punctuate the reading of genetic information in human mitochondrial DNA

1 reference

12 December 2020

Focal deficiency of cytochrome-c-oxidase in skeletal muscle of patients with progressive external ophthalmoplegia. Cytochemical-fine-structural study

1 reference

12 December 2020

Partial cytochrome oxidase deficiency without subsarcolemmal accumulation of mitochondria in chronic progressive external ophthalmoplegia

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12 December 2020

Partial cytochrome oxidase (aa3) deficiency in chronic progressive external ophthalmoplegia

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12 December 2020

Antibodies against the COOH-terminal undecapeptide of subunit II, but not those against the NH2-terminal decapeptide, immunoprecipitate the whole human cytochrome c oxidase complex

1 reference

12 December 2020

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

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12 December 2020

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

1 reference

12 December 2020

Immunocytochemical study of nebulin in Duchenne muscular dystrophy

1 reference

12 December 2020

A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome. II. Ultrastructure

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.86.23.9509

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1 August 2017

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1 August 2017

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