Stéphanie Astord

Targeted-SMN insufficiency in Skeletal Muscle Stem Cells mediates non-cell autonomous loss of motor neurons at long term

This study shows that SMN insufficiency in muscle stem cells leads to long-term motor neuron loss through non-cell autonomous mechanisms in SMA.

Pre-clinical evaluation of a gene therapy candidate for SOD1-ALS shows improved survival and signs of inflammation in the CNS of treated mice.

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

Systemic Factors Affect Bone Health in SMA Type II Patients and a Mouse Model of SMA

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

SMA Type II Skeletal Muscle Treated with Nusinersen shows SMN Restoration but Mitochondrial Deficiency.

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.