(Q35196878)

7 August 2017

title

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome (English)

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7 August 2017

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Noer AS

1

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7 August 2017

Sudoyo H

2

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7 August 2017

Lertrit P

3

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7 August 2017

Thyagarajan D

4

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7 August 2017

Utthanaphol P

5

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7 August 2017

Kapsa R

6

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7 August 2017

Byrne E

7

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7 August 2017

Marzuki S

8

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7 August 2017

language of work or name

English

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publication date

1 October 1991

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American Journal of Human Genetics

7 August 2017

published in

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7 August 2017

volume

49

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7 August 2017

issue

4

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7 August 2017

page(s)

715-722

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Sequence and organization of the human mitochondrial genome

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

The clinical features of mitochondrial myopathy

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Current perspectives in the study of human mitochondriopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683178

High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells

26 September 2018

1 reference

12 December 2020

Fluorographic detection of radioactivity in polyacrylamide gols with the water-soluble fluor, sodium salicylate

1 reference

12 December 2020

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

1 reference

12 December 2020

A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy

1 reference

12 December 2020

Mitochondrial myopathies

1 reference

12 December 2020

Oxygen electrode studies with human skeletal muscle mitochondria in vitro

1 reference

12 December 2020

Protein synthesis in mitochondria isolated from human skeletal muscle

1 reference

12 December 2020

Identifiers

PMC publication ID

1683178

1 reference

7 August 2017

1 reference