DYSF gene

Known as: Dysferlin, Limb Girdle Muscular Dystrophy 2B (Autosomal Recessive) Gene, fer-1-like family member 1, FER1L1 
This gene plays a role in muscle contraction and plasma membrane dynamics.

Topic mentions per year

Topic mentions per year

1999-2017
0102019992017

Papers overview

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Highly Cited
2012
Highly Cited
2012
OBJECTIVE Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker… (More)
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Highly Cited
2009
Highly Cited
2009
Defective membrane repair can contribute to the progression of muscular dystrophy. Although mutations in caveolin-3 (Cav3) and… (More)
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2009
2009
Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding… (More)
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Highly Cited
2007
Highly Cited
2007
Dysferlin is a type-II transmembrane protein and the causative gene of limb girdle muscular dystrophy type 2B and Miyoshi… (More)
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2007
2007
Mutations in dysferlin cause limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy… (More)
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Highly Cited
2006
Highly Cited
2006
Dysferlin is a muscle protein involved in cell membrane repair and its deficiency is associated with muscular dystrophy. We… (More)
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Highly Cited
2004
Highly Cited
2004
Limb girdle muscular dystrophy type 2B and Miyoshi myopathy are clinically distinct forms of muscular dystrophy that arise from… (More)
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Highly Cited
2003
Highly Cited
2003
Muscular dystrophy includes a diverse group of inherited muscle diseases characterized by wasting and weakness of skeletal muscle… (More)
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Highly Cited
2003
Highly Cited
2003
Mutations in the dysferlin gene cause limb girdle muscular dystrophy type 2B and Miyoshi myopathy. We report here the results of… (More)
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Highly Cited
2001
Highly Cited
2001
Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited… (More)
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