Enrico Bertini
Bambino Gesù Children's Hospital(IT)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Analysis of glutathione: implication in redox and detoxification(2003)1,179 cited
- → Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care(2017)1,011 cited
- → Consensus Statement for Standard of Care in Spinal Muscular Atrophy(2007)929 cited
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited