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Kearns-Sayre syndrome

Known as: CPEO with Myopathies, OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, WITH RAGGED-RED FIBERS, Kearns Syndrome 
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block… Expand
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
The ENDF/B-VII.1 library is our latest recommended evaluated nuclear data file for use in nuclear science and technology… Expand
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Highly Cited
2008
Highly Cited
2008
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have… Expand
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE The Karolinska sleepiness scale (KSS) is frequently used for evaluating subjective sleepiness. The main aim of the… Expand
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Highly Cited
2001
Highly Cited
2001
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are… Expand
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Highly Cited
2000
Highly Cited
2000
Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but… Expand
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Review
1993
Review
1993
Single large-scale deletions of mitochondrial DNA (mtDNA) are found in 70 to 80% of Kearns-Sayre syndrome (KSS) patients. Most… Expand
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Highly Cited
1990
Highly Cited
1990
MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical subgroups: (1) mitochondrial myopathy… Expand
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Highly Cited
1989
Highly Cited
1989
We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of… Expand
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Highly Cited
1989
Highly Cited
1989
The muscle mitochondria of a patient with Kearns-Sayre/chronic external ophthalmoplegia plus syndrome were found to be completely… Expand
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Highly Cited
1984
Highly Cited
1984
We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that… Expand
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