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Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation
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scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
title
Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
author
Charlotte L Alston
series ordinal
2
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Europe PubMed Central
PMC publication ID
4047625
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
Douglass Matthew Turnbull
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6
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Europe PubMed Central
PMC publication ID
4047625
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
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17 March 2020
Gráinne S. Gorman
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8
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Europe PubMed Central
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4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
Robert William Taylor
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7
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Robert W Taylor
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4047625
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
Emma L. Blakely
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1
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Emma L Blakely
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Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
Gavin Falkous
series ordinal
5
object named as
Gavin Falkous
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Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
Bryan Lecky
series ordinal
3
object named as
Bryan Lecky
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Europe PubMed Central
PMC publication ID
4047625
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
author name string
Biswajit Chakrabarti
series ordinal
4
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Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
publication date
1 April 2014
1 reference
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Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
published in
Neuromuscular Disorders
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Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
volume
24
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PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
issue
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
page(s)
533-536
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
cites work
Maternally inherited mitochondrial DNA disease in consanguineous families
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
21 June 2018
The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
21 June 2018
Prevalence of mitochondrial DNA disease in adults
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
21 June 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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
21 June 2018
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
21 June 2018
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
30 October 2018
Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4047625
retrieved
30 October 2018
Identifiers
DOI
10.1016/J.NMD.2014.03.011
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
PMC publication ID
4047625
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
PubMed publication ID
24792523
1 reference
stated in
Europe PubMed Central
PMC publication ID
4047625
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24792523%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 March 2020
ResearchGate publication ID
261292708
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