Dystrophia myotonica 2

Known as: Proximal Myotonic Myopathy, Ricker Syndrome, Dystrophia Myotonica 2s 
A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal… (More)
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Background- Cardiac surgery risk scores perform poorly in elderly patients, in part because they do not take into account frailty… (More)
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Highly Cited
2012
Highly Cited
2012
CONTEXT Previous observations showed a condition of low bone turnover and decreased osteoblast activity in both type 1 and 2… (More)
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Highly Cited
2005
Highly Cited
2005
BACKGROUND We sought to compare metabolic syndrome (MetS) with the Framingham Risk Score (FRS) as predictors of coronary heart… (More)
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Highly Cited
2005
Highly Cited
2005
Liquid chromatography/mass spectrometry (LC/MS) followed by multivariate statistical analysis has been successfully applied to… (More)
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Highly Cited
2004
Highly Cited
2004
The causes of cerebral accumulation of amyloid beta-protein (Abeta) in most cases of Alzheimer's disease (AD) remain unknown. We… (More)
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Highly Cited
2004
Highly Cited
2004
Myotonic dystrophy (DM) is caused by either an untranslated CTG expansion in the 3' untranslated region of the DMPK gene on… (More)
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Highly Cited
2003
Highly Cited
2003
A previous study in proximal myotonic myopathy (PROMM/DM-2) and myotonic dystrophy type 1 (DM-1) using brain positron emission… (More)
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Highly Cited
2003
Highly Cited
2003
Muscle biopsy findings in DM2 have been reported to be similar to those in DM1. The authors used myosin heavy chain… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with… (More)
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Highly Cited
2002
Highly Cited
2002
Myotonic dystrophy is a complex neuromuscular disorder associated with DNA expansion mutations in two different genes. In DM1 a… (More)
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