(Q43532572)

24 November 2017

title

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation (English)

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24 November 2017

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3

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24 November 2017

Rita Horvath

9

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Haluk Topaloglu

series ordinal

4

object named as

Haluk Topaloglu

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24 November 2017

2

Angela Pyle

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24 November 2017

Mauro Santibanez-Korev

series ordinal

7

object named as

Mauro Santibanez-Koref

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24 November 2017

8

Patrick F Chinnery

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24 November 2017

1

Beril Talim

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24 November 2017

Aysegul Tokatli

5

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24 November 2017

Michael J Keogh

series ordinal

6

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24 November 2017

language of work or name

English

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publication date

24 September 2012

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24 November 2017

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24 November 2017

volume

136

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24 November 2017

issue

Pt 2

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24 November 2017

page(s)

e228

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Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

24 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS197

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS197

Human diseases with impaired mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS197

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS197

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS197

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS197

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24 November 2017

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