Roberta Battini
Fondazione Stella Maris(IT)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Neurogenetic and Muscular Disorders Research, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1(2015)601 cited
- → Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling(2014)586 cited
- → Is hemiplegic cerebral palsy equivalent to amblyopia of the corticospinal system?(2007)265 cited
- → tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia(2008)252 cited
- → Reliability of the North Star Ambulatory Assessment in a multicentric setting(2009)227 cited