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polyglucosan

Known as: D-Glucan, d glucan 
 
National Institutes of Health

Papers overview

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2016
2016
Five Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle… Expand
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Highly Cited
2013
Highly Cited
2013
Glycogen storage diseases are important causes of myopathy and cardiomyopathy. We describe 10 patients from 8 families with… Expand
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Highly Cited
2007
Highly Cited
2007
Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling abnormal glycogen accumulate in several… Expand
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Highly Cited
2004
Highly Cited
2004
Lafora's disease (LD) is an autosomal recessive and fatal form of epilepsy with onset in late childhood or adolescence. One of… Expand
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Highly Cited
2004
Highly Cited
2004
Lafora disease (LD) is a fatal and the most common form of adolescent-onset progressive epilepsy. Fulminant endoplasmic reticulum… Expand
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Highly Cited
2003
Highly Cited
2003
Lafora progressive myoclonus epilepsy is characterized by pathognomonic endoplasmic reticulum (ER)-associated polyglucosan… Expand
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Highly Cited
1998
Highly Cited
1998
Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and… Expand
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1993
1993
We describe two patients with polyglucosan body disease (PBD) with the clinical features of atypical amyotrophic lateral… Expand
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Highly Cited
1993
Highly Cited
1993
SummaryPolyglucosan body diseases in adults, contrary to infantile cases (Andersen's disease or type IV glycogenosis or… Expand
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Review
1991
Review
1991
Adult polyglucosan disease has been described in 15 cases. All had signs of peripheral neuropathy, upper motor neuron signs, and… Expand
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