(Q35196308)

English

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

scientific article published on December 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

0 references

myoclonic epilepsy

1 reference

based on heuristic

inferred from title

author name string

L. Boulet

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

G. Karpati

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

E. A. Shoubridge

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

language of work or name

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publication date

1 December 1992

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

full work available at URL

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1334369/pdf/?tool=EBI

Portable Document Format

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1334369/?tool=EBI

online access status

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

https://europepmc.org/articles/PMC1682926

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

https://europepmc.org/articles/PMC1682926?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1334369

15 September 2022

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

51

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

1187-1200

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Sequence and organization of the human mitochondrial genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Isolation and characterization of human muscle cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Maternally inherited mitochondrial myopathy and myoclonic epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Improved media for normal human muscle satellite cells: serum-free clonal growth and enhanced growth with low serum.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Rapid segregation of heteroplasmic bovine mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Rapid detection of the A----G(8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Quantitative Film Detection of 3H and 14C in Polyacrylamide Gels by Fluorography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Biogenesis of mitochondrial proteins in HeLa cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

Transfer RNA: Molecular Structure, Sequence, and Properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

13 July 2018

The origins of replication of the yeast mitochondrial genome and the phenomenon of suppressivity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

26 September 2018

Regulation of mitochondrial gene expression in mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682926

26 September 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo effects of intercalating drugs on the superhelix density of mitochondrial DNA isolated from human and mouse cells in culture

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA copy number in bovine oocytes and somatic cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical spectrum of mitochondrial DNA mutation at base pair 8344

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

DECLINE IN SKELETAL MUSCLE MITOCHONDRIAL RESPIRATORY CHAIN FUNCTION: POSSIBLE FACTOR IN AGEING

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA in mortal and immortal human cells. Genome number, integrity, and methylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Muscle histopathology in myoclonus epilepsy with ragged-red fibers (MERRF)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitochondrial DNA mutation in a Chinese family with myoclonic epilepsy and ragged-red fiber disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/1334369

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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