(Q37120989)

18 August 2017

0 references

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

1 reference

18 August 2017

1 reference

mitochondrial disease

1 reference

A Saada

1

0 references

author name string

A Shaag

2

1 reference

18 August 2017

S Arnon

3

1 reference

18 August 2017

T Dolfin

4

1 reference

18 August 2017

C Miller

5

1 reference

18 August 2017

D Fuchs-Telem

6

1 reference

18 August 2017

A Lombes

7

1 reference

18 August 2017

O Elpeleg

8

1 reference

18 August 2017

language of work or name

English

0 references

publication date

14 September 2007

1 reference

Journal of Medical Genetics

18 August 2017

1 reference

18 August 2017

44

1 reference

18 August 2017

12

1 reference

18 August 2017

784-786

1 reference

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

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

Regulation of ribosomal protein synthesis in Escherichia coli B/r

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2652816

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

3 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17873122

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2007.053116

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

17873122

1 reference