(Q34386522)

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Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population.

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

1 reference

based on heuristic

inferred from title

mitochondrial encephalomyopathy

1 reference

based on heuristic

inferred from title

lactic acidosis

1 reference

based on heuristic

inferred from title

Jukka S Moilanen

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

author name string

Majamaa K

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Uimonen S

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Remes AM

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Salmela PI

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Kärppä M

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Majamaa-Voltti KA

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Rusanen H

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Sorri M

9

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Peuhkurinen KJ

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

Hassinen IE

11

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

language of work or name

0 references

publication date

1 August 1998

1 reference

Europe PubMed Central

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13 November 2019

American Journal of Human Genetics

1 reference

Europe PubMed Central

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13 November 2019

63

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

447-454

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 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=1377301

6 July 2018

Messages from an isolate: lessons from the Finnish gene pool

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Multiple origins of a mitochondrial mutation conferring deafness.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Classification of European mtDNAs from an analysis of three European populations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Maternal inheritance and the evaluation of oxidative phosphorylation diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Maternally inherited diabetes and deafness: a new diabetes subtype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Disease gene mapping in isolated human populations: the example of Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

COII/tRNA(Lys) intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (southern Nepal) have Oriental affinities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Mitochondrial DNA mutations in diseases of energy metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Seminars in medicine of the Beth Israel Hospital, Boston. Mitochondrial DNA and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Mitochondrial diabetes mellitus: a review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Hereditary diseases in Finland; rare flora in rare soul

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

Confidence intervals rather than P values: estimation rather than hypothesis testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

6 July 2018

A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (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=1377301

6 July 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=1377301

6 July 2018

Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

27 October 2018

A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377301

27 October 2018

Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid detection of mitochondrial sequence polymorphisms using multiplex solid-phase fluorescent minisequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/9683591

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9683591%20AND%20SRC:MED&resulttype=core&format=json

13 November 2019

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