Simona Orcesi

发表

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

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Isabella Moroni, John H Livingston, Odile Boespflug-Tanguy, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform

Riccardo Bellazzi, Ivan Limongelli, Roberto Ciccone, 2014, European Journal of Human Genetics.