(Q37306177)

19 August 2017

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes (English)

1 reference

19 August 2017

12

Salvatore DiMauro

1 reference

19 August 2017

9

Klaas J Wierenga

1 reference

19 August 2017

Bulent Kurt

1

1 reference

19 August 2017

Jaak Jaeken

2

1 reference

19 August 2017

Johan Van Hove

3

1 reference

19 August 2017

Lieven Lagae

4

1 reference

19 August 2017

Ann Löfgren

5

1 reference

19 August 2017

David B Everman

6

1 reference

19 August 2017

Parul Jayakar

7

1 reference

19 August 2017

Ali Naini

8

1 reference

19 August 2017

Gert Van Goethem

10

1 reference

19 August 2017

William C Copeland

11

1 reference

19 August 2017

1 February 2010

1 reference

19 August 2017

Archives of Neurology

1 reference

19 August 2017

67

1 reference

19 August 2017

2

1 reference

19 August 2017

239-244

1 reference

Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Gastrointestinal manifestations of mitochondrial disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Molecular diagnosis of Alpers syndrome.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

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

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

Mutational analysis of the human DNA polymerase alpha. The most conserved region in alpha-like DNA polymerases is involved in metal-specific catalysis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3826985

10.1001/ARCHNEUROL.2009.332

2 September 2018

Identifiers

DOI

1 reference

release_nfyxro6oindfzflmldpdghsbja

19 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/nfyxro6oindfzflmldpdghsbja

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

19 August 2017

PubMed publication ID

20142534

1 reference