(Q51471635)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

1

1 reference

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29 January 2020

author name string

Paula J Waters

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Michael A Sargent

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Michelle M Mezei

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Lee-Jun Wong

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Jing Wang

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Sylvia Stöckler-Ipsiroglu

7

1 reference

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29 January 2020

publication date

19 April 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

Developmental Medicine and Child Neurology

29 January 2020

published in

1 reference

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29 January 2020

volume

53

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

issue

6

1 reference

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29 January 2020

page(s)

565-568

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21518340%20AND%20SRC:MED&resulttype=core&format=json

Mitochondrial DNA mutations in human disease.

29 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03907.X

Mitochondrial DNA analysis in clinical laboratory diagnostics

21 January 2018

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Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy

21 January 2018

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Management of mitochondrial stroke-like-episodes

21 January 2018

1 reference

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The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03907.X

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03907.X

Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03907.X

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2010.03907.X

Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.

21 January 2018

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Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan

21 January 2018

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Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.

21 January 2018

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Diagnostic criteria for respiratory chain disorders in adults and children.

21 January 2018

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Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

21 January 2018

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Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation.

21 January 2018

1 reference

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