Enrico Bertini

Analysis of glutathione: implication in redox and detoxification

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Empirical Studies in Information Visualization: Seven Scenarios

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

Spinal muscular atrophy

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron