(Q85106816)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

title

Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author

Eléonore Eymard-Pierre

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

author name string

Pierre Labauge

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Imen Dorboz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Olivier Dereeper

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

Odile Boespflug-Tanguy

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

publication date

29 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

volume

258

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

14 February 2020

page(s)

335-337

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20878420%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1007/s00415-010-5755-5

14 February 2020

exact match

0 references

cites work

Brain MRI and proton MRS findings in infants and children with respiratory chain defects

1 reference

12 December 2020

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

1 reference

12 December 2020

Familial, adult onset form of leukoencephalopathy with brain stem and spinal cord involvement: inconstant high brain lactate and very slow disease progression

1 reference

12 December 2020

Translation matters: protein synthesis defects in inherited disease

1 reference

12 December 2020

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

1 reference

12 December 2020

Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.

1 reference

12 December 2020

Adult onset leucoencephalopathy with brain stem and spinal cord involvement and normal lactate.

1 reference

12 December 2020