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MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)

Known as: Multiminicore Myopathy, Multi-Minicore Disease, Multiminicore Disease 
Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. [HPO:probinson]
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
SUMMARY (13)C-based metabolic flux analysis ((13)C-MFA) is the state-of-the-art method to quantitatively determine in vivo… Expand
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Highly Cited
2010
Highly Cited
2010
This paper throws a small "wet blanket" on the hot topic of GPGPU acceleration, based on experience analyzing and tuning both… Expand
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Highly Cited
2009
Highly Cited
2009
A program is reentrant if distinct executions of that program on distinct inputs cannot affect each other. Reentrant programs… Expand
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Highly Cited
2006
Highly Cited
2006
Epigenetic regulation of gene expression is a source of genetic variation, which can mimic recessive mutations by creating… Expand
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Highly Cited
2005
Highly Cited
2005
Computer performance has been driven largely by decreasing the size of chips while increasing the number of transistors they… Expand
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Highly Cited
2005
Highly Cited
2005
Background:Minicore myopathy (multi-minicore disease [MmD]) is a congenital myopathy characterized by multifocal areas with loss… Expand
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Highly Cited
2004
Highly Cited
2004
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic… Expand
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Highly Cited
2003
Highly Cited
2003
The ryanodine receptor (RYR1) is an essential component of the calcium homeostasis of the skeletal muscle in mammals… Expand
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Highly Cited
2003
Highly Cited
2003
Rigid spine muscular dystrophy and the classical form of multiminicore disease are caused by mutations in SEPN1 gene, leading to… Expand
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Highly Cited
2002
Highly Cited
2002
Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core… Expand
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