Alessia Arena

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region

Willy Lissens, Alessia Arena, Sara Seneca et al. · Human Mutation · 2007 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases

Agata Fiumara, Giuseppina Lanzafame, Alessia Arena et al. · Journal of Clinical Medicine · 2020 · 44 citations · Full text

Social Sciences, Psychiatry, Psychology +17

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Dong Li, Qin Wang, Allan Bayat et al. · Journal of Clinical Investigation · 2023 · 44 citations · Full text

Life Sciences, Genetics, Neuroscience +17

A novel mutation in the X‐linked cyclin‐dependent kinase‐like 5 (<i>CDKL5</i>) gene associated with a severe Rett phenotype

T. Sprovieri, F. L. Conforti, Agata Fiumara et al. · American Journal of Medical Genetics Part A · 2009 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily

Marianna Messina, Concetta Meli, Federica Raudino et al. · International Journal of Neonatal Screening · 2018 · 19 citations · Full text

Medicine, Biochemistry, Pediatrics +16