Muscular Dystrophy, Oculopharyngeal

Known as: Oculopharyngeal Muscular Dystrophies, Oculopharyngeal Muscular Dystrophy, Progressive Muscular Dystrophy, Oculopharyngeal Type 
An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids… (More)
National Institutes of Health

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Autosomal dominant inheritanceConnective and Soft TissueDeglutition DisordersDysarthria
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Papers overview

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Review
2011
Review
2011
Oculopharyngeal muscular dystrophy.
Oculopharyngeal muscular dystrophy is a genetic condition characterized by muscle weakness that begins in adulthood, typically… (More)
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Highly Cited
2006
Highly Cited
2006
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disease that presents in the fifth or sixth decade with… (More)
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2006
2006
A Drosophila model of oculopharyngeal muscular dystrophy reveals intrinsic toxicity of PABPN1.
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset syndrome characterized by progressive degeneration of particular… (More)
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Highly Cited
2005
Highly Cited
2005
Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice
The muscular dystrophies are a heterogeneous group of disorders for which there are currently no cures. Oculopharyngeal muscular… (More)
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2003
2003
Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy.
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant muscular dystrophy that results from small… (More)
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Highly Cited
2002
Highly Cited
2002
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.
Protein conformational disorders (PCDs), such as Alzheimer's disease, Huntington's disease (HD), Parkinson's disease and… (More)
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2001
2001
Oculopharyngeal muscular dystrophy in Hispanic New Mexicans.
CONTEXT Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene… (More)
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Highly Cited
2000
Highly Cited
2000
Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.
Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease characterized by progressive eyelid drooping, swallowing… (More)
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Highly Cited
1998
Highly Cited
1998
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Nature Genet. 3, 241–246 (1993). Originally, we reported that the 3 ́ end of Gli3 is not deleted in the XtJ allele (Fig. 4). U. R… (More)
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Highly Cited
1980
Highly Cited
1980
Nuclear inclusions in oculopharyngeal dystrophy.
The ultrastructural examination of skeletal muscle biopsies of three typical cases of autosomal dominant inherited… (More)
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