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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… 
National Institutes of Health

Related topics

Related topics

16 relations
Autosomal dominant inheritanceConnective and Soft TissueDeglutition DisordersDysarthria

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
PABPN1 gene therapy for oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis… 
Review
2016
Review
2016
Saliva protein biomarkers to detect oral squamous cell carcinoma in a high-risk population in Taiwan
Significance Oral squamous cell carcinoma (OSCC) accounts for 90% of oral cancers, and earlier detection efficiently increases… 
Highly Cited
2015
Highly Cited
2015
Saliva proteome profiling reveals potential salivary biomarkers for detection of oral cavity squamous cell carcinoma
Oral cavity squamous cell carcinoma (OSCC), which is frequently associated with poor prognosis and mortality, is a leading cause… 
Highly Cited
2012
Highly Cited
2012
The Poly(A)-Binding Protein Nuclear 1 Suppresses Alternative Cleavage and Polyadenylation Sites
Highly Cited
2011
Highly Cited
2011
Factors predicting malignant transformation in oral potentially malignant disorders among patients accrued over a 10-year period in South East England.
OBJECTIVE  The aims of the study were to determine how frequently oral potentially malignant disorders (OPMDs) transform to… 
Highly Cited
2010
Highly Cited
2010
DynaDock: A new molecular dynamics‐based algorithm for protein–peptide docking including receptor flexibility
Molecular docking programs play an important role in drug development and many well‐established methods exist. However, there are… 
Highly Cited
2010
Highly Cited
2010
Betel-quid chewing with or without tobacco is a major risk factor for oral potentially malignant disorders in Sri Lanka: a case-control study.
Review
2005
Review
2005
Oculopharyngeal muscular dystrophy - an under-diagnosed disorder?
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant muscle disorder, usually of late onset. OPMD is among the few… 
Highly Cited
1998
Highly Cited
1998
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
Nature Genet. 18, 164– 167 (1998). Spelling errors were inadvertantly made in the names of two co-authors: Sergiu Blumen and Amos… 
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… 
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