Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay (Q62472316)

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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)

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20 January 2020

3

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20 January 2020

Agnès Rötig

7

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20 January 2020

author name string

Mourad Naïmi

1

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20 January 2020

Sylvie Bannwarth

2

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20 January 2020

Jean Pouget

4

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20 January 2020

Claude Desnuelle

5

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20 January 2020

Jean-François Pellissier

6

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20 January 2020

Arnold Munnich

8

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20 January 2020

Patrick Calvas

9

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20 January 2020

Christian Richelme

10

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20 January 2020

Philippe Jonveaux

11

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20 January 2020

Giovanni Castelnovo

12

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20 January 2020

Michel Clanet

14

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20 January 2020

Douglas Wallace

15

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20 January 2020

Véronique Paquis-Flucklinger

16

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20 January 2020

Mariella Simon

13

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publication date

26 April 2006

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European Journal of Human Genetics

20 January 2020

published in

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volume

14

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issue

8

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page(s)

917-922

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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

20 January 2020

cites work

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7 January 2021

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

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7 January 2021

Role of adenine nucleotide translocator 1 in mtDNA maintenance

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations

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7 January 2021

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

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7 January 2021

POLG mutations and Alpers syndrome

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7 January 2021

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

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7 January 2021

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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7 January 2021

DNA polymerase gamma, the mitochondrial replicase

1 reference

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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

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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

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7 January 2021

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

1 reference

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201627

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Dimensions Publication ID

20 January 2020

1011408147

0 references

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