(Q62472316)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16639411%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

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

1 reference

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20 January 2020

3

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20 January 2020

Agnès Rötig

7

1 reference

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20 January 2020

author name string

Mourad Naïmi

1

1 reference

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20 January 2020

Sylvie Bannwarth

2

1 reference

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20 January 2020

Jean Pouget

4

1 reference

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20 January 2020

Claude Desnuelle

5

1 reference

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20 January 2020

Jean-François Pellissier

6

1 reference

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20 January 2020

Arnold Munnich

8

1 reference

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20 January 2020

Patrick Calvas

9

1 reference

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20 January 2020

Christian Richelme

10

1 reference

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20 January 2020

Philippe Jonveaux

11

1 reference

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20 January 2020

Giovanni Castelnovo

12

1 reference

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20 January 2020

Michel Clanet

14

1 reference

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20 January 2020

Douglas Wallace

15

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20 January 2020

Véronique Paquis-Flucklinger

16

1 reference

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20 January 2020

Mariella Simon

13

1 reference

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20 January 2020

publication date

26 April 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16639411%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

20 January 2020

published in

1 reference

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20 January 2020

volume

14

1 reference

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20 January 2020

issue

8

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20 January 2020

page(s)

917-922

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201627

20 January 2020

exact match

0 references

cites work

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/10.1038%2FSJ.EJHG.5201627

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

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/10.1038%2FSJ.EJHG.5201627

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

POLG mutations and Alpers syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

DNA polymerase gamma, the mitochondrial replicase

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

Mutations in the spacer region of Drosophila mitochondrial DNA polymerase affect DNA binding, processivity, and the balance between Pol and Exo function

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201627

7 January 2021