(Q28202095)

Douglass Matthew Turnbull

7

object named as

Robert W Taylor

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6

object named as

Douglass M Turnbull

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Stephan Zierz

5

object named as

Stephan Zierz

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author name string

Marcus Deschauer

1

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Reinhard Kiefer

2

0 references

Langping He

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases

4

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language of work or name

English

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publication date

September 2003

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published in

Neuromuscular Disorders

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volume

13

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issue

7-8

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page(s)

568-72

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

Diseases caused by nuclear genes affecting mtDNA stability

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

The V368i mutation in Twinkle does not segregate with AdPEO

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

The neurology of mitochondrial DNA disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021

Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2803%2900071-3

7 January 2021