(Q73912619)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10862082%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

title

Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations (English)

1 reference

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7 November 2019

author name string

Rubio-Gozalbo ME

1

1 reference

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7 November 2019

Dijkman KP

2

1 reference

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7 November 2019

van den Heuvel LP

3

1 reference

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7 November 2019

Sengers RC

4

1 reference

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7 November 2019

Wendel U

5

1 reference

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7 November 2019

Smeitink JA

6

1 reference

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7 November 2019

publication date

1 January 2000

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7 November 2019

1 reference

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7 November 2019

volume

15

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7 November 2019

issue

6

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7 November 2019

page(s)

522-532

1 reference

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Sequence and organization of the human mitochondrial genome

7 November 2019

cites work

1 reference

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Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase

21 January 2018

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Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome.

21 January 2018

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

21 January 2018

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Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

21 January 2018

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A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome.

21 January 2018

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Merrf family with 8344 mutation in tRNA (lys). Evidence of a mitochondrial vasculopathy in muscle biopsies

21 January 2018

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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

21 January 2018

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Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation

21 January 2018

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Mitochondria in neuromuscular disorders

21 January 2018

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Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.

21 January 2018

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Recent developments in the molecular genetics of mitochondrial disorders

21 January 2018

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

1 reference

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The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase

21 January 2018

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A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.

21 January 2018

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Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy

21 January 2018

1 reference

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

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Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

21 January 2018

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Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins

21 January 2018

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Reversible mitochondrial myopathy with cytochrome c oxidase deficiency

21 January 2018

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Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

21 January 2018

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Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.

21 January 2018

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Mitochondrial DNA mutations and pathogenesis

21 January 2018

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

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Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)

21 January 2018

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Maternal inheritance and the evaluation of oxidative phosphorylation diseases

21 January 2018

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

21 January 2018

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Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy.

21 January 2018

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A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

21 January 2018

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

21 January 2018

1 reference

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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

21 January 2018

1 reference

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

21 January 2018

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Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy

21 January 2018

1 reference

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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

21 January 2018

1 reference

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Familial Leigh's syndrome: association with a defect in oxidative metabolism probably restricted to brain

21 January 2018

1 reference

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NADH:Q1 oxidoreductase deficiency without lactic acidosis in a patient with leigh syndrome: Implications for the diagnosis of inborn errors of the respiratory chain

21 January 2018

1 reference

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21 January 2018

Mitochondrial Disorders

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C522%3A%3AAID-HUMU4%3E3.0.CO%3B2-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1098-1004%28200006%2915%3A6%3C522%3A%3AAID-HUMU4%3E3.0.CO%3B2-Y

10.1002/1098-1004(200006)15:6<522::AID-HUMU4>3.0.CO;2-Y

21 January 2018

Identifiers

DOI

0 references

1 reference