Dysferlinopathy

 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2000-2018
0102020002018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
OBJECTIVE To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
2015
2015
OBJECTIVE Dysferlinopathies are a family of untreatable muscle disorders caused by mutations in the dysferlin gene. Lack of… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • table 2
Is this relevant?
2013
2013
BACKGROUND Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
2010
2010
Repair of plasma membrane tears is an important normal physiological process that enables the cells to survive a variety of… (More)
  • figure 1
  • figure 2
Is this relevant?
2010
2010
Dysferlinopathies are autosomal recessive, progressive muscle dystrophies caused by mutations in DYSF, leading to a loss or a… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
2009
2009
We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed… (More)
Is this relevant?
2005
2005
BACKGROUND The dysferlin gene has recently been shown to be involved in limb girdle muscular dystrophy type 2B and its allelic… (More)
  • table 1
  • table 2
  • table 3
  • figure 1
  • figure 2
Is this relevant?
2005
2005
Mutations in dysferlin, a member of the fer1-like protein family that plays a role in membrane integrity and repair, can give… (More)
  • table 1
  • figure 2
  • figure 1
  • figure 4
  • figure 5
Is this relevant?
2002
2002
OBJECTIVE To clarify the clinical heterogeneity and genotype-phenotype correlation in dysferlinopathy. METHODS We evaluated… (More)
Is this relevant?
2001
2001
BACKGROUND Dysferlinopathies are associated with proximal or distal muscular dystrophy. Dysferlin immunolocalizes to the muscle… (More)
Is this relevant?