(Q48574190)

12 February 2018

title

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. (English)

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12 February 2018

author

Daniele Ghezzi

2

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12 February 2018

Enrico Bertini

12

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12 February 2018

Eugenio Grillo

Eugenio Grillo

9

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Luísa Diogo

Luisa Diogo

8

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Holger Prokisch

Holger Prokisch

13

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Massimo Zeviani

15

Massimo Zeviani

1 reference

12 February 2018

Carola G M van Berkel

6

Carola G M van Berkel

1 reference

12 February 2018

Truus E M Abbink

4

Truus E M Abbink

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12 February 2018

author name string

Marjan E Steenweg

1

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12 February 2018

Tobias Haack

3

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12 February 2018

Diego Martinelli

5

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12 February 2018

Annette Bley

7

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12 February 2018

Johann Te Water Naudé

10

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12 February 2018

Tim M Strom

11

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12 February 2018

Marjo S van der Knaap

14

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12 February 2018

language of work or name

English

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publication date

4 April 2012

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12 February 2018

published in

Brain

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12 February 2018

volume

135

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12 February 2018

issue

Pt 5

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12 February 2018

page(s)

1387-1394

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12 February 2018

Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Clinical and molecular findings in children with complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Human diseases with impaired mitochondrial protein synthesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Novel infantile-onset leukoencephalopathy with high lactate level and slow improvement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

Multiparameter metabolic analysis reveals a close link between attenuated mitochondrial bioenergetic function and enhanced glycolysis dependency in human tumor cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS070

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS070

1 reference

12 February 2018

1 reference

12 February 2018