Francesca Romana Di Raimo

POPDC1S201F causes muscular dystrophy and arrhythmia by affecting protein trafficking

R. Schindler, C. Scotton, Jianguo Zhang et al. · Journal of Clinical Investigation · 2015 · 101 citations · Full text

Treatment with valproic acid ameliorates ADHD symptoms in fragile X syndrome boys

Maria-Giulia Torrioli, S. Vernacotola, Chiara Setini et al. · American Journal of Medical Genetics Part A · 2010 · 70 citations

Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

María Luisa Di Pietro, Drieda Zaçe, Alessia Orfino et al. · European Journal of Human Genetics · 2020 · 23 citations · Full text

Breast Oncology, Cancer Literacy, Cancer Pathology +12

Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family

Filomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni et al. · Human Mutation · 2011 · 22 citations · Full text

Genetics, Molecular Genetics, Synaptic Signaling +18