(Q50475586)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16996290%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

title

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome (English)

1 reference

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30 December 2019

5

1 reference

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30 December 2019

Cristina Ugalde

1

1 reference

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30 December 2019

Reetta Hinttala

2

1 reference

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30 December 2019

author name string

Sharita Timal

3

1 reference

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30 December 2019

Roel Smeets

4

1 reference

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30 December 2019

Johanna Uusimaa

6

1 reference

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30 December 2019

Lambert P van Heuvel

7

1 reference

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30 December 2019

Leo G J Nijtmans

8

1 reference

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30 December 2019

Kari Majamaa

9

1 reference

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30 December 2019

Jan A M Smeitink

10

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30 December 2019

publication date

22 September 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16996290%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

30 December 2019

published in

1 reference

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30 December 2019

volume

90

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30 December 2019

issue

1

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30 December 2019

page(s)

10-14

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Respiratory chain complex I deficiency

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Analysis of the subunit composition of complex I from bovine heart mitochondria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Paternal inheritance of mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Mitochondria-mediated transformation of human rho(0) cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.08.003

10.1016/J.YMGME.2006.08.003

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16996290%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference