(Q34203277)

31 July 2017

title

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy (English)

1 reference

31 July 2017

13

0 references

Francis Brunelle

11

Francis Brunelle

0 references

Nathalie Boddaert

9

Nathalie Boddaert

0 references

Vladimir Benes

Vladimir Benes

8

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Agnès Rötig

14

Agnès Rötig

1 reference

31 July 2017

6

Dominique Chretien

1 reference

31 July 2017

2

Valérie Serre

1 reference

31 July 2017

1

Louise Galmiche

1 reference

31 July 2017

Marine Beinat

3

1 reference

31 July 2017

Zahra Assouline

4

1 reference

31 July 2017

Anne-Sophie Lebre

5

1 reference

31 July 2017

Patrick Nietschke

7

1 reference

31 July 2017

Daniel Sidi

10

1 reference

31 July 2017

Marlène Rio

12

1 reference

31 July 2017

publication date

14 September 2011

1 reference

31 July 2017

1 reference

31 July 2017

volume

32

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31 July 2017

issue

11

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31 July 2017

page(s)

1225-1231

1 reference

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

A novel X-linked gene, G4.5. is responsible for Barth syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Structural basis for aminoglycoside inhibition of bacterial ribosome recycling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

The social life of ribosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Systematic identification of human mitochondrial disease genes through integrative genomics

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Defective mitochondrial mRNA maturation is associated with spastic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

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/10.1002%2FHUMU.21562

Ribosomal protein L3 functions as a 'rocker switch' to aid in coordinating of large subunit-associated functions in eukaryotes and Archaea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Blue Native electrophoresis to study mitochondrial and other protein complexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

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/10.1002%2FHUMU.21562

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/10.1002%2FHUMU.21562

Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

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/10.1002%2FHUMU.21562

Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Acute infantile liver failure due to mutations in the TRMU gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

Biochemical and molecular investigations in respiratory chain deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21562

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21562

1 reference

release_atx5hjpr65azjog2zw2x6xrn4y

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/atx5hjpr65azjog2zw2x6xrn4y

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference