MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
|
15269216 |
2004 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
|
10360771 |
1999 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Human mitochondrial complex I in health and disease.
|
10330338 |
1999 |
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
A Drosophila Mitochondrial Complex I Deficiency Phenotype Array.
|
30972103 |
2019 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD.
|
30429455 |
2018 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
|
22644603 |
2012 |
Leigh Disease
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Here, we report a patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit.
|
17275378 |
2007 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency.
|
17604671 |
2007 |
Leigh Disease
|
0.550 |
GeneticVariation
|
disease |
LHGDN |
Here, we report a patient with Leigh syndrome (LS), born to consanguineous parents, with severe complex I defect and a novel mutation in the NDUFS7 gene subunit.
|
17275378 |
2007 |
Leigh Disease
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency.
|
17604671 |
2007 |
Leigh Disease
|
0.550 |
AlteredExpression
|
disease |
LHGDN |
By genotyping several putative disease loci using microsatellite markers we were able to describe a new NDUFS7 mutation in a consanguineous family with Leigh syndrome and isolated complex I deficiency.
|
17604671 |
2007 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency.
|
15269216 |
2004 |
Leigh Disease
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
While homozygosity for a V122M substitution in NDUFS7 (PSST) has been found in two siblings with neuropathologically proven Leigh syndrome (R. Triepels et al., Ann.Neurol.
|
11004438 |
2000 |
Leigh Disease
|
0.550 |
GeneticVariation
|
disease |
BEFREE |
Of 100 patients with the clinical diagnosis of Leigh syndrome, 21 were found to have specific enzyme defects: 15 involving cytochrome c oxidase (COX); 4, pyruvate dehydrogenase complex (PDHC); one, complex I (reduced nicotinamide adenine dinucleotide [NADH]-coenzyme Q reductase) and one, complex II (succinate-ubiquinone reductase) deficiencies.
|
10721666 |
2000 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
CLINGEN |
We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
|
10360771 |
1999 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
BEFREE |
We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome.
|
10360771 |
1999 |
Leigh Disease
|
0.550 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.
|
22644603 |
2012 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|