Centronuclear myopathy

Known as: myopathy myotubular, Centronuclear Myopathies, Myopathy, Centronuclear 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1966-2018
0102019662018

Papers overview

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2014
2014
Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of… (More)
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2014
2014
Centronuclear myopathies (CNM) are congenital disorders associated with muscle weakness and abnormally located nuclei in skeletal… (More)
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2013
2013
OBJECTIVE To identify causative genes for centronuclear myopathies (CNM), a heterogeneous group of rare inherited muscle… (More)
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Highly Cited
2009
Highly Cited
2009
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations… (More)
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2006
2006
Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a… (More)
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Highly Cited
2005
Highly Cited
2005
Autosomal dominant centronuclear myopathy is a rare congenital myopathy characterized by delayed motor milestones and muscular… (More)
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Highly Cited
2000
Highly Cited
2000
Myotubular myopathy (MTM1) is an X-linked disease, characterized by severe neonatal hypotonia and generalized muscle weakness… (More)
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Highly Cited
2000
Highly Cited
2000
The lipid second messenger phosphatidylinositol 3-phosphate [PI(3)P] plays a crucial role in intracellular membrane trafficking… (More)
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Highly Cited
1996
Highly Cited
1996
X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and generalized muscle weakness, with impaired… (More)
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1991
1991
The X-linked recessive centronuclear/myotubular myopathy (XLR-CNM/MTM1), a severe neonatal disorder characterized by generalized… (More)
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