(Q34643074)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23010433%20AND%20SRC:MED&resulttype=core&format=json

9 March 2020

title

EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome (English)

1 reference

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9 March 2020

15

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9 March 2020

Fiorella Piemonte

3

1 reference

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9 March 2020

Anna Pastore

4

1 reference

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9 March 2020

Giulia Tozzi

5

1 reference

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9 March 2020

Carlo Dionisi-Vici

6

1 reference

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9 March 2020

Giuseppe Pontrelli

7

1 reference

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9 March 2020

1

Diego Martinelli

1 reference

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9 March 2020

2

Michela Catteruccia

1 reference

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9 March 2020

16

Guy Miller

1 reference

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9 March 2020

author name string

Tiziana Corsetti

8

1 reference

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9 March 2020

Susanna Livadiotti

9

1 reference

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9 March 2020

Viktoria Kheifets

10

1 reference

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9 March 2020

Andrew Hinman

11

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9 March 2020

William D Shrader

12

1 reference

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9 March 2020

Martin Thoolen

13

1 reference

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9 March 2020

Matthew B Klein

14

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9 March 2020

publication date

10 September 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23010433%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

9 March 2020

published in

1 reference

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9 March 2020

volume

107

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9 March 2020

issue

3

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9 March 2020

page(s)

383-388

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Subacute necrotizing encephalomyelopathy in an infant

9 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Molecular genetic characterization of an X-linked form of Leigh's syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

X-linked Leigh's syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Epidemiology of pediatric mitochondrial respiratory chain disorders in northwest Spain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

α-Tocotrienol quinone modulates oxidative stress response and the biochemistry of aging

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Prognosis for gross motor function in cerebral palsy: creation of motor development curves

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

The PedsQL™* 4.0 as a Pediatric Population Health Measure: Feasibility, Reliability, and Validity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Scale for evaluation of movement disorders in the first three years of life.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Movement disorder-childhood rating scale: reliability and validity.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Leigh and Leigh-like syndrome in children and adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007

Effect of EPI-743 on the clinical course of the mitochondrial disease Leber hereditary optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.007