(Q36965757)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

title

A novel Twinkle (PEO1) gene mutation in a Chinese family with adPEO (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

author name string

Zhirong Liu

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Yao Ding

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Ailian Du

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Baorong Zhang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Guohua Zhao

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

Meiping Ding

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

publication date

3 November 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

page(s)

1995-2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle

26 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Investigation on mtDNA deletions and twinkle gene mutation (G1423C) in Iranian patients with chronic progressive external opthalmoplagia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Two families with autosomal dominant progressive external ophthalmoplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Clinical and molecular features of adPEO due to mutations in the Twinkle gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Diseases caused by nuclear genes affecting mtDNA stability

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Role of adenine nucleotide translocator 1 in mtDNA maintenance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2579934

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

4 December 2018

1 reference

12 December 2020

Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24

1 reference

12 December 2020

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

1 reference

12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18989381%20AND%20SRC:MED&resulttype=core&format=json

26 December 2019

PubMed publication ID

18989381

1 reference