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Non-Dystrophic Myotonia

Known as: Non Dystrophic Myotonia 
A group of rare skeletal muscle ion-channel disorders caused by genetic mutations in the sodium and chloride channel genes. It is characterized by… Expand
National Institutes of Health

Papers overview

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2017
2017
&NA; Mexiletine is the only drug with proven effect for treatment of non‐dystrophic myotonia, but mexiletine is expensive, has… Expand
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2013
2013
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with… Expand
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2011
2011
Objective To identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical… Expand
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Highly Cited
2008
Highly Cited
2008
We report on a patient with a severe, rare neonatal form of non-dystrophic myotonia. The patient presented with facial… Expand
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Highly Cited
2007
Highly Cited
2007
Dystrophic neurites are swollen dendrites or axons recognizable near amyloid plaques as a part of important pathological feature… Expand
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Review
2002
Review
2002
Pure non-syndromic, non-dystrophic myotonia in humans is caused by mutations in the genes coding for the skeletal muscle sodium… Expand
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1996
1996
Paired helical filament (PHF)/tau immunoreactive dystrophic neurites are a common pathological feature in the brain of patients… Expand
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Highly Cited
1995
Highly Cited
1995
The fibrillar beta-amyloid protein (A beta) plaques of Alzheimer's disease (AD) are associated with reactive astrocytes and… Expand
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Highly Cited
1994
Highly Cited
1994
Neuritic plaques are the histologic hallmark of Alzheimer's disease (AD); however, the extent to which they are injurious to… Expand
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1992
1992
Immunocytochemical staining of hypothalamic cell groups with four antibodies to Alzheimer paired helical filaments (PHF) (i.e… Expand
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