(Q28188428)

6

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Chantal Ceuterick

4

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Bart Dermaut

3

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author name string

Gert Van Goethem

1

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Ann Löfgren

2

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Jean-Jacques Martin

Role of adenine nucleotide translocator 1 in mtDNA maintenance

5

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language of work or name

English

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publication date

August 2003

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published in

Human Mutation

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volume

22

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issue

2

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page(s)

175-6

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Multiple mtDNA deletions with features of MNGIE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Neuropathological and histochemical changes in a multiple mitochondrial DNA deletion disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246

Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10246