Mitochondrial Encephalomyopathies

Known as: ENCEPHALOMYOPATHY, MITOCHONDRIAL, encephalomyopathies mitochondrial, Mitochondrial Encephalomyopathies [Disease/Finding] 
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Copyright © 2013 Massachusetts Medical Society. Mitochondria are mobile organelles that exist in dynamic networks. They… (More)
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Highly Cited
2007
Highly Cited
2007
We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The… (More)
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Review
2005
Review
2005
A genetic classification of the mitochondrial encephalomyopathies includes disorders due to defects of mitochondrial DNA (mtDNA… (More)
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Highly Cited
2000
Highly Cited
2000
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe… (More)
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Highly Cited
1998
Highly Cited
1998
Mitochondrial diseases are characterized by considerable clinical variability and are most often caused by mutations in mtDNA… (More)
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Review
1993
Review
1993
Mitochondrial diseases are uniquely interesting from a genetic point of view because mitochondria contain their own DNA (mtDNA… (More)
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Highly Cited
1991
Highly Cited
1991
Mutant mitochondrial DNA with large-scale deletions (delta-mtDNA) has been frequently observed in patients with chronic… (More)
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Highly Cited
1989
Highly Cited
1989
The electron transport system of muscle mitochondria was examined in a familial syndrome of lactacidemia, mitochondrial myopathy… (More)
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Highly Cited
1988
Highly Cited
1988
Sir: With great interest we have read the paper of Dr. E. Ohama et al., ,,Mitochondrial angiopathy in cerebral blood vessels of… (More)
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Highly Cited
1988
Highly Cited
1988
A large MERRF pedigree permitted the direct testing of the predictions for a mitochondrial DNA (mtDNA) mutation. A mtDNA mutation… (More)
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