(Q48279963)

10 February 2018

title

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (English)

1 reference

10 February 2018

mitochondrial encephalomyopathy

main subject

1 reference

Elsebet Ostergaard

1

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10 February 2018

Flemming J Hansen

2

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10 February 2018

Nicolina Sorensen

3

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10 February 2018

Morten Duno

4

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10 February 2018

John Vissing

5

1 reference

10 February 2018

Pernille L Larsen

6

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10 February 2018

Oddmar Faeroe

7

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10 February 2018

Sigurdur Thorgrimsson

8

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10 February 2018

Flemming Wibrand

9

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10 February 2018

Ernst Christensen

10

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10 February 2018

Marianne Schwartz

11

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10 February 2018

language of work or name

English

0 references

publication date

7 February 2007

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10 February 2018

published in

Brain

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10 February 2018

volume

130

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10 February 2018

issue

Pt 3

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10 February 2018

page(s)

853-861

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10 February 2018

Metabolomic approaches to mitochondrial disease: correlation of urine organic acids

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Urinary excretion of succinylacetone and delta-aminolevulinic acid in patients with hereditary tyrosinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Genetic evidence for the expression of ATP- and GTP-specific succinyl-CoA synthetases in multicellular eucaryotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Role of adenine nucleotide translocator 1 in mtDNA maintenance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Localization and characterization of the mitochondrial isoform of the nucleoside diphosphate kinase in the pancreatic beta cell: evidence for its complexation with mitochondrial succinyl-CoA synthetase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Minimum birth prevalence of mitochondrial respiratory chain disorders in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3‐methylcrotonyl‐CoA and propionyl‐CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

Linkage disequilibrium and demographic history of the isolated population of the Faroe Islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWL383

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWL383

1 reference

10 February 2018

PubMed ID

17287286

1 reference

10 February 2018