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Dysferlinopathy

 
National Institutes of Health

Papers overview

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2015
2015
Objective Dysferlinopathies are a family of untreatable muscle disorders caused by mutations in the dysferlin gene. Lack of… Expand
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Highly Cited
2013
Highly Cited
2013
BackgroundDysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the… Expand
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Highly Cited
2011
Highly Cited
2011
The limb-girdle muscular dystrophies are a group of disorders with wide genetic and clinical heterogeneity. Recently, mutations… Expand
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Highly Cited
2010
Highly Cited
2010
A naturally occurring miniversion of the dysferlin protein found in a patient shows that gene therapy by minigene transfer may be… Expand
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Highly Cited
2010
Highly Cited
2010
Repair of plasma membrane tears is an important normal physiological process that enables the cells to survive a variety of… Expand
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Highly Cited
2009
Highly Cited
2009
We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed… Expand
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Highly Cited
2005
Highly Cited
2005
Background: The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic… Expand
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2003
2003
Mutations in the dysferlin gene cause muscular dystrophies called dysferlinopathy, which include limb-girdle muscular dystrophy… Expand
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2002
2002
OBJECTIVE To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy. METHODS We evaluated… Expand
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Highly Cited
2001
Highly Cited
2001
Background: Dysferlinopathies are associated with proximal or distal muscular dystrophy. Dysferlin immunolocalizes to the muscle… Expand
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