Sabrina Buoni
University of Siena(IT)
Publications by Year
Research Areas
Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Metabolism and Genetic Disorders, Pharmacological Effects and Toxicity Studies
Most-Cited Works
- → FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome(2008)432 cited
- → Novel PTEN mutations in neurodevelopmental disorders and macrocephaly(2009)108 cited
- → Telomere length and obesity(2008)95 cited
- → Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)(2015)91 cited
- → A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia(2012)89 cited
- → Epilepsy in Rett syndrome: Clinical and genetic features(2010)82 cited
- → Early-onset seizure variant of Rett syndrome: Definition of the clinical diagnostic criteria(2009)72 cited
- → Vagus nerve stimulation for drug-resistant epilepsy in children and young adults(2003)64 cited
- → Betamethasone and Improvement of Neurological Symptoms in Ataxia-Telangiectasia(2006)63 cited
- → Diagnosis of Angelman syndrome: clinical and EEG criteria(1999)62 cited