Congenital Structural Myopathy

Known as: Congenital Non-Progressive Myopathies, Congenital Non-Progressive Myopathy, Myopathies, Myotubular 
A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each… (More)
National Institutes of Health

Papers overview

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Review
2006
Review
2006
Autophagic vacuoles are a frequent feature in numerous neuromuscular disorders. However, they are also pathognomonic morphologic… (More)
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Highly Cited
2005
Highly Cited
2005
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular… (More)
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Highly Cited
2005
Highly Cited
2005
We present a three-dimensional model of the homopentameric alpha7 nicotinic acetylcholine receptor (nAChR), that includes the… (More)
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Highly Cited
2005
Highly Cited
2005
This paper describes a procedure for identifying mass and stiffness imperfections present in a microring gyroscope. In general… (More)
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Highly Cited
2000
Highly Cited
2000
Calpain 3 is known as the skeletal muscle-specific member of the calpains, a family of intracellular nonlysosomal cysteine… (More)
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Highly Cited
1999
Highly Cited
1999
Kainate (KA) is a potent neuroexcitatory agent in several areas of the adult brain, with convulsant and excitotoxic properties… (More)
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Highly Cited
1992
Highly Cited
1992
Zidovudine (AZT) inhibits HIV-1 replication in AIDS. A limiting side effect is AZT-induced toxic myopathy. Molecular changes in a… (More)
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Highly Cited
1989
Highly Cited
1989
We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of dystrophin in muscle… (More)
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Highly Cited
1978
Highly Cited
1978
THE skeletal muscle fibre is a long, multinucleated cell formed by fusion of mononuclear precursor cells (myoblasts) with one… (More)
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