(Q33871683)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479361%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

title

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO (English)

1 reference

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2 February 2020

2

1 reference

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2 February 2020

Joanna Poulton

8

1 reference

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2 February 2020

Benedikt Schoser

14

1 reference

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Douglass Matthew Turnbull

2 February 2020

21

1 reference

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2 February 2020

Rita Horvath

22

1 reference

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2 February 2020

20

P F Chinnery

1 reference

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2 February 2020

18

E L Blakely

1 reference

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2 February 2020

10

M G Hanna

1 reference

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2 February 2020

author name string

C Fratter

1

1 reference

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2 February 2020

J D Stewart

3

1 reference

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2 February 2020

M Buddles

4

1 reference

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2 February 2020

C Smith

5

1 reference

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2 February 2020

J Evans

6

1 reference

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2 February 2020

A Seller

7

1 reference

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2 February 2020

M Roberts

9

1 reference

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2 February 2020

S Rahman

11

1 reference

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2 February 2020

S E Omer

12

1 reference

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2 February 2020

T Klopstock

13

1 reference

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2 February 2020

C Kornblum

15

1 reference

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2 February 2020

B Czermin

16

1 reference

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2 February 2020

B Lecky

17

1 reference

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2 February 2020

K Craig

19

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2 February 2020

R W Taylor

23

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2 February 2020

language of work or name

English

0 references

publication date

1 May 2010

1 reference

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2 February 2020

1 reference

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2 February 2020

volume

74

1 reference

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2 February 2020

issue

20

1 reference

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2 February 2020

page(s)

1619-1626

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479361%20AND%20SRC:MED&resulttype=core&format=json

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

2 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Two families with autosomal dominant progressive external ophthalmoplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

The diagnosis of mitochondrial muscle disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Role of adenine nucleotide translocator 1 in mtDNA maintenance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

A novel variation in the Twinkle linker region causing late-onset dementia.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Recessive twinkle mutations cause severe epileptic encephalopathy

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Resistance training in patients with single, large-scale deletions of mitochondrial DNA.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Phenotype and clinical course in a family with a new de novo Twinkle gene mutation

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2875130

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

29 October 2018

1 reference

12 December 2020

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

1 reference

12 December 2020

Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay

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

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

1 reference

12 December 2020

10.1212/WNL.0B013E3181DF099F

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479361%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20479361%20AND%20SRC:MED&resulttype=core&format=json

2 February 2020

PubMed publication ID

20479361

1 reference