Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis
Emanuela Abiusi, Alessandro Vaisfeld, Stefania Fiori, Agnese Novelli, Serena Spartano, Maria Vittoria Faggiano, Teresa Giovanniello, Antonio Angeloni, Giovanni Vento, Roberta Santoloci, Francesca Gigli, Adele D'Amico, Simonetta Costa, Alessia Porzi, Mara Panella, Chiara Ticci, Marta Daniotti, Michele Sacchini, Ilaria Boschi, Carlo Dani, Rino Agostiniani, Enrico Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Maria Alice Donati, Eugenio Mercuri, Francesco Danilo Tiziano
Journal of Medical Genetics Jul 2023, 60 (7) 697-705; DOI: 10.1136/jmg-2022-108873
