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

Maaike C de Vries

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Eva Morava

3

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Edwin P M van Kaauwen

4

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Henk ter Laak

5

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Reinier A Mullaart

6

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Irina N Snoeck

7

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Peter M van Hasselt

8

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Peter Harding

9

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Lambert P W van den Heuvel

10

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Jan A M Smeitink

11

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publication date

7 September 2006

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European Journal of Pediatrics

published in

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volume

166

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issue

3

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page(s)

229-234

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

cites work

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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

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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

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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

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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

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12 December 2020

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

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

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

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Human NADH:ubiquinone oxidoreductase

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

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

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12 December 2020

POLG mutations and Alpers syndrome

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12 December 2020

DNA polymerase gamma in mitochondrial DNA replication and repair.

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

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Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

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POLG mutations in Alpers syndrome

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

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

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Mitochondrial DNA depletion and dGK gene mutations

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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.

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

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

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12 December 2020

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

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

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Consequences of mutations in human DNA polymerase gamma.

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12 December 2020

10.1007/S00431-006-0234-9

Identifiers

DOI

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19 April 2018

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19 April 2018