Mitochondrial Respiratory Chain Deficiencies

Known as: Deficiencies, Respiratory Chain, Deficiency, Respiratory Chain, Respiratory Chain Deficiencies, Mitochondrial 
 
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
BACKGROUND Muscle biopsy is the gold standard for diagnosis of mitochondrial disorders because of the lack of sensitive… (More)
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Highly Cited
2007
Highly Cited
2007
Mitochondrial dysfunction is implicated in the pathophysiology of Parkinson's disease (PD), a common age-associated… (More)
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Highly Cited
2007
Highly Cited
2007
OBJECTIVE To determine the actual incidence of mitochondrial DNA (mtDNA) depletion syndrome in multiple respiratory chain… (More)
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Highly Cited
2006
Highly Cited
2006
Here we show that in substantia nigra neurons from both aged controls and individuals with Parkinson disease, there is a high… (More)
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Highly Cited
2004
Highly Cited
2004
We performed global gene expression analyses in mouse hearts with progressive respiratory chain deficiency and found a metabolic… (More)
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Highly Cited
2003
Highly Cited
2003
Starting from a cohort of 50 NADH-oxidoreductase (complex I) deficient patients, we carried out the systematic sequence analysis… (More)
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Highly Cited
2002
Highly Cited
2002
We have generated an animal model for mitochondrial myopathy by disrupting the gene for mitochondrial transcription factor A… (More)
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Review
2001
Review
2001
Respiratory chain deficiencies have long been regarded as neuromuscular diseases mostly originating from mutations in the… (More)
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Highly Cited
1998
Highly Cited
1998
The regulation of mitochondrial DNA (mtDNA) expression is crucial for mitochondrial biogenesis during development and… (More)
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Highly Cited
1992
Highly Cited
1992
Cytoplasts from two unrelated patients with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike… (More)
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