(Q57390016)

Hanns Lochmüller

7

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Angela Pyle

5

Angela Pyle

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Angela Abicht

9

Angela Abicht

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Elke Holinski-Feder

10

Elke Holinski-Feder

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Ulrike Schara

1

Ulrike Schara

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Birgit Czermin

8

Birgit Czermin

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author name string

Jürgen-Christoph von Kleist-Retzow

2

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Elke Lainka

3

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Patrick Gerner

4

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Paul M. Smith

Journal of Inherited Metabolic Disease

6

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publication date

10 December 2010

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published in

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volume

34

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issue

1

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page(s)

197-201

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exact match

https://scigraph.springernature.com/pub.10.1007/s10545-010-9250-z

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cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Nuclear genes and mitochondrial translation: a new class of genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Mitochondrial tRNA 3' end metabolism and human disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Clinical and molecular features of mitochondrial DNA depletion syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Mitochondrial DNA mutations and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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/10.1007%2FS10545-010-9250-Z

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9250-Z

Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21153446