Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia (Q46085618)

19 December 2017

title

Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia (English)

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19 December 2017

autosomal dominant progressive external ophthalmoplegia

main subject

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author name string

Kunqian Ji

1

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19 December 2017

Kaiming Liu

2

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19 December 2017

Pengfei Lin

3

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19 December 2017

Bing Wen

4

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19 December 2017

Yue-Bei Luo

5

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19 December 2017

Yuying Zhao

6

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19 December 2017

Chuanzhu Yan

7

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19 December 2017

publication date

4 October 2013

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19 December 2017

published in

Neurological Sciences

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19 December 2017

volume

35

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19 December 2017

issue

3

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19 December 2017

page(s)

443-448

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19 December 2017

https://scigraph.springernature.com/pub.10.1007/s10072-013-1557-8

exact match

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cites work

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

1 reference

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Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase

21 January 2018

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Methods of microphotometric assay of succinate dehydrogenase and cytochrome c oxidase activities for use on human skeletal muscle.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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.

21 January 2018

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A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

21 January 2018

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

21 January 2018

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TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review

21 January 2018

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

21 January 2018

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Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

21 January 2018

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Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA

21 January 2018

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Two families with autosomal dominant progressive external ophthalmoplegia

21 January 2018

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

21 January 2018

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

21 January 2018

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Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure.

21 January 2018

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Recessive twinkle mutations cause severe epileptic encephalopathy

21 January 2018

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Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia

21 January 2018

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

21 January 2018

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Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

21 January 2018

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

21 January 2018

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12 December 2020

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

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12 December 2020

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk

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12 December 2020

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

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12 December 2020

Identification of a Novel Twinkle Mutation in a Family With Infantile Onset Spinocerebellar Ataxia by Whole Exome Sequencing

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12 December 2020

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

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12 December 2020

Twinkle helicase(PEO1)gene mutation causes mitochondrial DNA depletion

1 reference

12 December 2020

10.1007/S10072-013-1557-8

Identifiers

DOI

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19 December 2017

1 reference

19 December 2017