Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Michela TaianaAlessandra GovoniSabrina SalaniNicole KleinschmidtNoemi GalliMatteo SaladiniStefano Bruno GhezziValentina MelziMargherita BersaniRoberto Del BoOliver MuehlemannEnrico BertiniValeria SansoneEmilio AlbamonteSonia MessinaFrancesco MariElisabetta CesaroniLiliana PorfiriFrancesco Danilo TizianoGian Luca VitaMaria SframeliCarmen BonannoNereo BresolinGiacomo ComiStefania P CortiMonica NizzardoPublished in: Journal of neurology, neurosurgery, and psychiatry (2022)