Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
|
12616398 |
2003 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
|
14765537 |
2003 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
|
14749350 |
2004 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy.
|
18396137 |
2008 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
|
22326555 |
2012 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Fatal breathing dysfunction in a mouse model of Leigh syndrome.
|
22653057 |
2012 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.
|
24020637 |
2014 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Proteomics. Tissue-based map of the human proteome.
|
25613900 |
2015 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Ndufs4 related Leigh syndrome: A case report and review of the literature.
|
27079373 |
2016 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Structure of mammalian respiratory complex I.
|
27509854 |
2016 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.
|
27671926 |
2017 |
Necrotizing encephalopathy, infantile subacute, of Leigh
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model.
|
29590638 |
2018 |