(Q52007435)

19 April 2018

title

Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. (English)

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19 April 2018

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2

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author name string

Maaike C de Vries

1

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19 April 2018

Eva Morava

3

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19 April 2018

Edwin P M van Kaauwen

4

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19 April 2018

Henk ter Laak

5

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19 April 2018

Reinier A Mullaart

6

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19 April 2018

Irina N Snoeck

7

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19 April 2018

Peter M van Hasselt

8

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19 April 2018

Peter Harding

9

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19 April 2018

Lambert P W van den Heuvel

10

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19 April 2018

Jan A M Smeitink

11

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19 April 2018

publication date

7 September 2006

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19 April 2018

European Journal of Pediatrics

published in

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19 April 2018

volume

166

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19 April 2018

issue

3

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19 April 2018

page(s)

229-234

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19 April 2018

https://scigraph.springernature.com/pub.10.1007/s00431-006-0234-9

exact match

0 references

cites work

Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0234-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0234-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0234-9

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-006-0234-9

Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.

21 January 2018

1 reference

12 December 2020

Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.

1 reference

12 December 2020

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

1 reference

12 December 2020

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

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12 December 2020

Human NADH:ubiquinone oxidoreductase

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12 December 2020

Patient homozygous for a recessive POLG mutation presents with features of MERRF

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12 December 2020

Valproate-induced hepatic failure in a case of cytochrome c oxidase deficiency

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12 December 2020

POLG mutations and Alpers syndrome

1 reference

12 December 2020

DNA polymerase gamma in mitochondrial DNA replication and repair.

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12 December 2020

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin

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12 December 2020

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

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12 December 2020

POLG mutations in Alpers syndrome

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12 December 2020

Some practical aspects of providing a diagnostic service for respiratory chain defects

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12 December 2020

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

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12 December 2020

Mitochondrial DNA depletion and dGK gene mutations

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12 December 2020

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

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12 December 2020

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

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12 December 2020

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

1 reference

12 December 2020

Inhibitory effects of sodium valproate on oxidative phosphorylation

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12 December 2020

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

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12 December 2020

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

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12 December 2020

Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome.

1 reference

12 December 2020

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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12 December 2020

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

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12 December 2020

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

12 December 2020

Consequences of mutations in human DNA polymerase gamma.

1 reference

12 December 2020

10.1007/S00431-006-0234-9

Identifiers

DOI

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19 April 2018

PubMed ID

16957900

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19 April 2018