Piera Smeriglio

This study identifies GDF5 as a protective factor in ALS by restoring SMAD signaling and preserving motor unit integrity through gene delivery in a mouse model.

This study shows that SMN loss in SMA Type II myoblasts causes genomic stress, leading to DNA damage and innate immune activation, which impairs myoblast differentiation.

This study identifies NOTCH3 and GLIS3 as contributors to regeneration impairment in Duchenne Muscular Dystrophy using spatial transcriptomics and multiomic profiling.

This study evaluates a gene therapy for SOD1-ALS, showing improved survival and CNS inflammation in treated mice with dose-dependent hSOD1 reduction.

The paper profiles the transcriptome of bone and cartilage in SMA patients and mouse models to identify molecular changes contributing to bone pathology.

The paper analyzes RNA-seq data from SMA Type II muscle tissue treated with Nusinersen, finding SMN restoration but persistent mitochondrial dysfunction and cellular stress.