Barry J. Byrne

This study reports 5-year safety and 3-year clinical outcomes of AAV9-GLB1 gene therapy in a juvenile GM1 gangliosidosis patient, showing sustained seizure freedom and biochemical improvements.

This study shows systemic hypoxia promotes lung adenocarcinoma progression by mobilizing glycogen via GAA, supporting tumor growth through metabolic remodeling.

This phase 1/2 trial evaluates AAV9 gene therapy for GM1 gangliosidosis Type II, showing safety and some biochemical and neuroimaging improvements.

This study analyzes heart tissue from BTHS patients using integrated omics to identify metabolic and mitochondrial changes associated with the disease.

The paper describes the clinical, neuroimaging, and molecular features of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability, providing variant interpretation guidelines and carrier frequency estimates.