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Modeling and gene therapy of dysferlinopathy
2013Dysferlinopathies is a group of autosomal-recessive inherited neuromuscular diseases, which are characterized by defect in mRNA expression or in functionioning of dysferlin protein, appearing in about 1/200 000 births. Dysferlin is encoded by DYSF gene (Dystrophy-associated fer-1- like).
Starostina I. +7 more
openaire +2 more sources
Dysferlinopathy: From Gene to Protein
Journal of Clinical Neuromuscular Disease, 2008openaire +2 more sources
Structure-Based Designed Nano-Dysferlin Significantly Improves Dysferlinopathy in BLA/J Mice
Molecular Therapy, 2017Catherine Dial, R Bryan Sutton
exaly
Broadening the imaging phenotype of dysferlinopathy at different disease stages
Muscle and Nerve, 2016Jorge Diaz +2 more
exaly
Muscle atrophy, ubiquitin–proteasome, and autophagic pathways in dysferlinopathy
Muscle and Nerve, 2014Corrado Angelini
exaly
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy
Molecular Therapy, 2020Hiroya Ono, Naoki Suzuki, Masashi Aoki
exaly
Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
Neuromuscular Disorders, 2015Ha Young Shin +2 more
exaly