<i>KCND3</i>-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

by Luca Pollini, Serena Galosi, Manuela Tolve, Caterina Caputi, Carla Carducci, Antonio Angeloni, Vincenzo Leuzzi
Published 2020-08-01

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male

by Luca Pollini, Manuela Tolve, Francesca Nardecchia, Serena Galosi, Claudia Carducci, Emanuele di Carlo, Carla Carducci, Vincenzo Leuzzi
Published 2020-03-01

Failure to thrive - an overlooked manifestation of KMT2B-related dystonia: a case presentation

by Andrew Ng, Serena Galosi, Lisa Salz, Terence Wong, Caitlin Schwager, Shivarajan Amudhavalli, Rose Gelineau-Morel, Shimul Chowdhury, on behalf of Rady Children’s Institute for Genomic Medicine Investigators, Jennifer Friedman
Published 2020-06-01

NGS in Hereditary Ataxia: When Rare Becomes Frequent

by Daniele Galatolo, Giovanna De Michele, Gabriella Silvestri, Vincenzo Leuzzi, Carlo Casali, Olimpia Musumeci, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Caterina Caputi, Ettore Cioffi, Giuseppe De Michele, Maria Teresa Dotti, Tommasina Fico, Chiara Fiorillo, Serena Galosi, Maria Lieto, Alessandro Malandrini, Marina A. B. Melone, Andrea Mignarri, Gemma Natale, Elena Pegoraro, Antonio Petrucci, Ivana Ricca, Vittorio Riso, Salvatore Rossi, Anna Rubegni, Arianna Scarlatti, Francesca Tinelli, Rosanna Trovato, Gioacchino Tedeschi, Alessandra Tessa, Alessandro Filla, Filippo Maria Santorelli
Published 2021-08-01