Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi E, Vaisfeld A, Fiori S, Novelli A, Spartano S, Faggiano MV, Giovanniello T, Angeloni A, Vento G, Santoloci R, Gigli F, D'Amico A, Costa S, Porzi A, Panella M, Ticci C, Daniotti M, Sacchini M, Boschi I, Dani C, Agostiniani R, Bertini E, Lanzone A, Lamarca G, Genuardi M, Pane M, Donati MA, Mercuri E, Tiziano FD; Italian SMA-NBS group.
Abiusi E, et al.
J Med Genet. 2023 Jul;60(7):697-705. doi: 10.1136/jmg-2022-108873. Epub 2022 Nov 22.
J Med Genet. 2023.
PMID: 36414255
We report here the results of the first Italian SMA-NBS project and provide some proposals for updating the current molecular diagnostic scenario. ...In detail, SMA diagnosis should be felt as a true medical urgency due to therapeutic implications; SMN2 copy assessm …
We report here the results of the first Italian SMA-NBS project and provide some proposals for updating the current molecular …