(Q44849480)

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Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome

scientific article published on 10 October 2013

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scholarly article

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Europe PubMed Central

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6 December 2017

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome (English)

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Europe PubMed Central

PubMed publication ID

6 December 2017

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Miguel Angel Martín

9

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105702%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Joaquín Arenas

10

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1 June 2020

Francisco Martínez-Azorín

11

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1 June 2020

Ana Moreno-Izquierdo

8

object named as

Ana Moreno-Izquierdo

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1 June 2020

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Aitor Delmiro

1

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1 June 2020

Henry Rivera

2

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1 June 2020

María Teresa García-Silva

3

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1 June 2020

Inés García-Consuegra

4

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1 June 2020

Elena Martín-Hernández

5

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1 June 2020

Pilar Quijada-Fraile

6

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1 June 2020

Rogelio Simón de Las Heras

7

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1 June 2020

publication date

10 October 2013

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6 December 2017

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1 June 2020

34

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1 June 2020

12

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1 June 2020

1623-1627

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1 June 2020

Isolated mitochondrial complex I deficiency: explorative data analysis of patient cell parameters

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Epileptic phenotypes associated with mitochondrial disorders.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Evidence for nuclear modifier gene in mitochondrial cardiomyopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Community-based study of Lennox-Gastaut syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mutations of the mitochondrial ND1 gene as a cause of MELAS.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

OXPHOS mutations and neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondria and reactive oxygen species. Which role in physiology and pathology?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Circumventing the Crabtree Effect: Replacing Media Glucose with Galactose Increases Susceptibility of HepG2 Cells to Mitochondrial Toxicants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondrial complex I plays an essential role in human respirasome assembly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Recent advances in the genetics of mitochondrial encephalopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondrial disorders as windows into an ancient organelle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Calcium and ATP handling in human NADH:ubiquinone oxidoreductase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Factors influencing the evolution of West syndrome to Lennox-Gastaut syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Lack of complex I is associated with oncocytic thyroid tumours

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondrial genomes gleaned from human whole-exome sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

21 January 2018

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22445

7 January 2021

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Identifiers

10.1002/HUMU.22445

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105702%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24105702%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

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