(Q43532572)

24 November 2017

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

1 reference

24 November 2017

1 reference

3

1 reference

24 November 2017

Rita Horvath

9

0 references

Haluk Topaloglu

series ordinal

4

object named as

Haluk Topaloglu

1 reference

24 November 2017

2

Angela Pyle

1 reference

24 November 2017

Mauro Santibanez-Korev

series ordinal

7

object named as

Mauro Santibanez-Koref

1 reference

24 November 2017

8

Patrick F Chinnery

1 reference

24 November 2017

1

Beril Talim

1 reference

24 November 2017

Aysegul Tokatli

5

1 reference

24 November 2017

Michael J Keogh

series ordinal

6

1 reference

24 November 2017

language of work or name

English

0 references

publication date

24 September 2012

1 reference

24 November 2017

1 reference

24 November 2017

136

1 reference

24 November 2017

e228

1 reference

24 November 2017

Pt 2

1 reference

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

24 November 2017

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

1 reference

24 November 2017

1 reference