Eleonora Maino

This paper describes a dual AAV gene therapy approach using linker proteins to restore basement membrane function in LAMA2 MD, showing significant improvements in muscle and nerve defects.

This study shows that muscle fiber Myc is not required for muscle growth but its overexpression disrupts muscle structure and function.

The paper generates a mouse model with an in-frame deletion of exons 52-55 in Dmd, mimicking Becker Muscular Dystrophy, and characterizes its long-term effects on muscle and heart function.

This paper describes a CRISPR/Cas9-based method to create a mouse model with a tandem duplication of Irak1 and Mecp2, which exhibits MDS-like neurological and immune phenotypes.

This paper develops a haploid cell model for Niemann-Pick disease type C to characterize patient variants and enable clinical interpretation.