complex i deficiency

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2002-2017
02420022017

Papers overview

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2017
2017
Pathogenic mtDNA mutations associated with alterations of respiratory complex I, mitochondrial proliferation (oncocytic-like… (More)
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2017
2017
We report a 36-year-old female having lifetime exercise intolerance and lactic acidosis with nausea associated with novel… (More)
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2017
2017
To date, only few mutations in the mitochondrial DNA (mtDNA)-encoded ND2 subunit of Complex I have been reported, usually… (More)
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2017
2017
Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder, characterized by a wide clinical and genetic… (More)
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2016
2016
The pathophysiological mechanisms underlying Complex I (CI) deficiencies are understood only partially which severely limits the… (More)
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2016
2016
Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100… (More)
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2016
2016
BACKGROUND Isolated Complex I deficiency is the most common paediatric mitochondrial disease presentation, associated with poor… (More)
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2016
2016
Acyl-CoA dehydrogenase 9 (ACAD9) is a mitochondrial protein involved in oxidative phosphorylation complex I biogenesis. This… (More)
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2015
2015
To investigate the clinical, enzymological and mitochondrial gene profiles of complex I deficiency in Chinese, clinical and… (More)
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2002
2002
BACKGROUND Patients with isolated complex I deficiency (CID) in skeletal muscle mitochondria often present with exercise… (More)
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