(Q62671329)

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The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White

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21 December 2019

The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17106447%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Parkinson's disease

1 reference

based on heuristic

inferred from title

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inferred from title

Richard J Rodenburg

6

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21 December 2019

author name string

E Mariken Ruiter

1

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21 December 2019

Marloes H Siers

2

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21 December 2019

Christa van den Elzen

3

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21 December 2019

Baziel G van Engelen

4

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21 December 2019

Jan A M Smeitink

5

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21 December 2019

Frans A Hol

7

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21 December 2019

publication date

15 November 2006

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21 December 2019

European Journal of Human Genetics

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21 December 2019

15

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21 December 2019

2

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21 December 2019

155-161

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21 December 2019

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201735

0 references

The genetics and pathology of oxidative phosphorylation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical and molecular findings in children with complex I deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

The human complex I NDUFS4 subunit: from gene structure to function and pathology

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Human NADH:ubiquinone oxidoreductase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Pyrosequencing sheds light on DNA sequencing

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening of the mitochondrial genome using denaturing high-performance liquid chromatography.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

High incidence of pre-excitation syndrome in Japanese families with Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Pre-excitation syndrome in Leber's hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201735

7 January 2021

based on heuristic

inferred from DOI database lookup

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