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Generation of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS... by Federica Feo, Silvia Falliano, Anna Caciotti, Marina Rinaldi, Alessia Caroli, Laura Giunti, Martino Calamai, Elena Procopio, Renzo Guerrini, Amelia Morrone, Rodolfo Tonin
Published 2025-09-01Get full text
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Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening, In Silico Predictions, and Molecular Studies by Serena Catarzi, Anna Caciotti, Janita Thusberg, Rodolfo Tonin, Sabrina Malvagia, Giancarlo la Marca, Elisabetta Pasquini, Catia Cavicchi, Lorenzo Ferri, Maria A. Donati, Federico Baronio, Renzo Guerrini, Sean D. Mooney, Amelia Morrone
Published 2013-01-01Get full text
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GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region by Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone
Published 2025-01-01Get full text
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