(Q35188338)

7 August 2017

1 reference

title

Mitochondrial disorders: clinical presentation and diagnostic dilemmas (English)

1 reference

7 August 2017

Smeitink JA

1

1 reference

7 August 2017

1 January 2003

1 reference

Journal of Inherited Metabolic Disease

7 August 2017

1 reference

7 August 2017

26

1 reference

7 August 2017

2-3

1 reference

7 August 2017

199-207

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1024489218004

7 August 2017

0 references

cites work

A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study

1 reference

12 December 2020

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

1 reference

12 December 2020

Human mitochondrial complex I in health and disease

1 reference

12 December 2020

Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

1 reference

12 December 2020

Ubiquitin tag for sperm mitochondria

1 reference

12 December 2020

Clinical aspects of mitochondrial disorders

1 reference

12 December 2020

Human NADH:ubiquinone oxidoreductase

1 reference

12 December 2020

Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

1 reference

12 December 2020

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial oxidative phosphorylation: pitfalls and tips in measuring and interpreting enzyme activities

1 reference

12 December 2020

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

1 reference

12 December 2020

Mitochondrial oxidative phosphorylation system assembly in man: recent achievements

1 reference

12 December 2020

Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

1 reference

12 December 2020

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

1 reference

12 December 2020

Respiratory chain complex I deficiency

1 reference

12 December 2020

Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art

1 reference

12 December 2020

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

12 December 2020

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene

1 reference

12 December 2020

Mitochondrial assembly in yeast.

1 reference

12 December 2020

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

1 reference

12 December 2020

Mitochondrial DNA in mammalian reproduction

1 reference

12 December 2020

Blue Native electrophoresis to study mitochondrial and other protein complexes

1 reference

12 December 2020

The genetics and pathology of oxidative phosphorylation

1 reference

12 December 2020

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

1 reference

12 December 2020

CIA30 complex I assembly factor: a candidate for human complex I deficiency?

1 reference

12 December 2020

Application of the obligate aerobic yeast Yarrowia lipolytica as a eucaryotic model to analyse Leigh syndrome mutations in the complex I core subunits PSST and TYKY

1 reference

12 December 2020

Role of adenine nucleotide translocator 1 in mtDNA maintenance

1 reference

12 December 2020

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

1 reference

12 December 2020

Diagnosis of mitochondrial disorders: clinical and biochemical approach

1 reference

12 December 2020

Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

1 reference

12 December 2020

Animal models for respiratory chain disease

1 reference

12 December 2020

Human deafness dystonia syndrome is a mitochondrial disease

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1024489218004

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1024489218004

1 reference

PubMed ID

12889661

Dimensions Publication ID

7 August 2017

0 references

1 reference

PubMed ID

12889661