2021
Parrini, M. et Al. « Restoring neuronal chloride homeostasis with anti-NKCC1 gene therapy rescues cognitive deficits in a mouse model of Down syndrome » Mol Ther 6 ;29(10), 3072-3092
Costa-Verdera, H.
« Hepatic expression of GAA results in enhanced enzyme bioavailability in mice and non-human primates »
Nature communications 12, 6393
Clayton, JS et Al.
« Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene »
Stem cell research 55, 102482
Pavani, G. et Al.
« Targeted gene delivery: Where to land »
Frontiers in Genome Editing, volume 2, Open Access
Marinello, M.
« Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy »
Journal of visualized experiments : JoVE 178
