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, Simona 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 DaniRino Agostiniani, Enrico Bertini, Enrico Silvio Bertini, Antonio Lanzone, Giancarlo Lamarca, Maurizio Genuardi, Marika Pane, Marika Pane, Maria Alice Donati, Eugenio Maria Mercuri, Francesco Danilo Tiziano

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Biochemistry, Genetics and Molecular Biology