(Q47795959)

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Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

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2

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Laurence Bindoff

4

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

object named as

David R Thorburn

7

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author name string

Anna H Hakonen

1

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Renato Salemi

3

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Gert Van Goethem

5

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Salvatore Dimauro

6

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

Anu Suomalainen

8

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

publication date

11 April 2007

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

15

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

7

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

779-783

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201831

0 references

Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

21 January 2018

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

21 January 2018

DNA polymerase gamma, the mitochondrial replicase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of 5'-deoxyribose phosphate lyase activity in human DNA polymerase gamma and its role in mitochondrial base excision repair in vitro

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

POLG mutations and Alpers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

POLG mutations in Alpers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular diagnosis of Alpers syndrome.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

POLG1 mutations associated with progressive encephalopathy in childhood.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201831

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201831

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

release_dyyqfybi2zhwpc3bdlhwfx5eku

1 reference

https://api.fatcat.wiki/v0/release/dyyqfybi2zhwpc3bdlhwfx5eku

24 November 2022

based on heuristic

mapped directly with Wikidata item

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 February 2018

http://europepmc.org/abstract/MED/17426723

ResearchGate publication ID

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