(Q33793596)

29 July 2017

title

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome (English)

1 reference

29 July 2017

1

André Schaller

1 reference

29 July 2017

Dagmar Hahn

2

1 reference

29 July 2017

Christopher B Jackson

3

1 reference

29 July 2017

Ilse Kern

4

1 reference

29 July 2017

Christophe Chardot

5

1 reference

29 July 2017

Dominique C Belli

6

1 reference

29 July 2017

Sabina Gallati

7

1 reference

29 July 2017

Jean-Marc Nuoffer

8

1 reference

29 July 2017

language of work or name

1 reference

14 January 2011

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29 July 2017

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29 July 2017

volume

11

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29 July 2017

page(s)

4

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Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: a review

29 July 2017

cites work

1 reference

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Inherited mitochondrial diseases of DNA replication

4 July 2018

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DNA polymerases and human diseases

4 July 2018

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Systematic identification of human mitochondrial disease genes through integrative genomics

4 July 2018

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Functional human mitochondrial DNA polymerase gamma forms a heterotrimer

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032677

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease

4 July 2018

1 reference

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Functions of DNA polymerases

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032677

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032677

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032677

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

4 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3032677

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure

4 July 2018

1 reference

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Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma

4 July 2018

1 reference

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The kinetic properties of citrate synthase from rat liver mitochondria

4 July 2018

1 reference

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Infantile Diffuse Cerebral Degeneration With Hepatic Cirrhosis

4 July 2018

1 reference

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POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

4 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-4

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.

21 January 2018

1 reference

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Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations

21 January 2018

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Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

21 January 2018

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

21 January 2018

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Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.

21 January 2018

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

21 January 2018

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The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

21 January 2018

1 reference

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POLG mutations in Alpers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2377-11-4

Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels.

21 January 2018

1 reference

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Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.

21 January 2018

1 reference

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Severe hepatotoxicity during valproate therapy: an update and report of eight new fatalities.

21 January 2018

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Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

21 January 2018

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Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

21 January 2018

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Blue-native gels to isolate protein complexes from mitochondria.

30 October 2018

1 reference

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Biochemical and molecular investigations in respiratory chain deficiencies

30 October 2018

1 reference

12 December 2020

Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood

1 reference

12 December 2020

Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

1 reference

12 December 2020

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2377-11-4

1 reference

Dimensions Publication ID

29 July 2017

0 references

1 reference

29 July 2017

1 reference