(Q38668918)

English

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR.

scientific article published on February 2001

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR. (English)

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

mitochondrial DNA

0 references

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Szuhai K

1

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Ouweland J

2

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Dirks R

3

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Lemaître M

4

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Truffert J

5

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Janssen G

6

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Tanke H

7

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Holme E

8

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Maassen J

9

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Raap A

10

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

language of work or name

0 references

publication date

1 February 2001

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Nucleic Acids Research

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

29

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

3

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

E13

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Molecular beacons: probes that fluoresce upon hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

A unified view of polymer, dumbbell, and oligonucleotide DNA nearest-neighbor thermodynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Kinetic PCR Analysis: Real-time Monitoring of DNA Amplification Reactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Maternal inheritance of human mitochondrial DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

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=30414

6 September 2017

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=30414

6 September 2017

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

6 September 2017

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=30414

14 September 2017

The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

25 September 2017

Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

25 September 2017

Relaxed replication of mtDNA: A model with implications for the expression of disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Mitochondrial DNA mutations and pathogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Changes in the number of mitochondrial genomes during human development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

PCR Amplification from Paraffin-Embedded Tissues: Effects of Fixative and Fixation Time

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

23 June 2018

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

31 August 2018

Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

1 October 2018

Detection of Mitochondrial DNA Deletions in Human Skin Fibroblasts of Patients with Pearson's Syndrome by Two-color Fluorescence In Situ Hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=30414

3 December 2018

Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitation of mitochondrial DNA in human lymphoblasts by a competitive polymerase chain reaction method: application to the study of inhibitors of mitochondrial DNA content

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ekbom's syndrome of photomyoclonus, cerebellar ataxia and cervical lipoma is associated with the tRNA(Lys) A8344G mutation in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multicolor molecular beacons for allele discrimination

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11160915

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/11160915

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/NAR/29.3.E13

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

5 September 2017

ResearchGate publication ID

0 references

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