(Q34295052)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

title

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

0 references

1

1 reference

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18 November 2019

Nereo Bresolin

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Giacomo P Comi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

6

Andreina Bordoni

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

author name string

Alexandros Papadimitriou

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Sara Galbiati

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Phani Palamidou

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Francesco Fortunato

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

Urania Papandreou

7

1 reference

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18 November 2019

Dimitra Papadimitriou

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

George M Hadjigeorgiou

9

1 reference

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18 November 2019

Eurydiki Drogari

10

1 reference

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18 November 2019

language of work or name

English

0 references

publication date

5 February 2004

1 reference

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18 November 2019

1 reference

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18 November 2019

volume

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

18 November 2019

issue

5

1 reference

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18 November 2019

page(s)

842-846

1 reference

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https://scigraph.springernature.com/pub.10.1203/01.pdr.0000117844.73436.68

18 November 2019

exact match

0 references

cites work

Subacute necrotizing encephalomyelopathy in an infant

1 reference

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Mitochondrial respiratory-chain diseases

21 January 2018

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Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

21 January 2018

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Nuclear genetic defects of oxidative phosphorylation

21 January 2018

1 reference

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Variability in the activity of respiratory chain enzymes in mitochondrial myopathies

21 January 2018

1 reference

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Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

1 reference

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A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Disturbed oxidative metabolism in subacute necrotizing encephalomyelopathy (Leigh syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Respiratory chain complex I deficiency

21 January 2018

1 reference

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2F01.PDR.0000117844.73436.68

Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency

21 January 2018

1 reference

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Complex I from the fungus Neurospora crassa

21 January 2018

1 reference

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10.1203/01.PDR.0000117844.73436.68

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14764913%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

18 November 2019

0 references

1 reference