Publications

Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disorder characterized by CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase coding gene. The presence of expanded CTG repeats in DMPK mRNAs leads to the sequestration of RNA-binding factor...

Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). GAA deficiency results in the progressive accumulation of glycogen in cardiac and skeletal muscle tiss...

AAV-based gene therapy represents an attractive treatment for hereditary peripheral neuropathies Charcot-Marie-Tooth diseases. We recently showed that AAV2/9 vector-expressing GFP, locally injected into mouse and rat sciatic nerves, transduced a large amount of myelinating Schwann cells (mSCs). T...