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JIMD Reports|February 23, 2013
Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol TraffickingStefania Zampieri, Bruno Bembi, Natalia Rosso, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 21, 2017
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense TechnologyElisa Goina, Paolo Peruzzo, Bruno Bembi, et al.
Journal of Inherited Metabolic Disease|March 24, 2012
Long-term bone mineral density response to enzyme replacement therapy in a retrospective pediatric cohort of Gaucher patientsGiovanni Ciana, Laura Deroma, Anna Martina Franzil, et al.
Pediatric Neurology|June 19, 2012
Early miglustat therapy in infantile Niemann-Pick disease type CMaja Di Rocco, Andrea Dardis, Annalisa Madeo, et al.
Plos One|November 15, 2014
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C diseaseStefania Zampieri, Ezio Bianchi, Carlo Cantile, et al.
International Journal of Molecular Sciences|May 9, 2020
CRISPR/Cas9 Editing for Gaucher Disease ModellingEleonora Pavan, Maximiliano Ormazabal, Paolo Peruzzo, et al.
Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.
International Journal of Molecular Sciences|December 10, 2021
Acid Sphingomyelinase Deficiency: A Clinical and Immunological PerspectiveCarolina Pinto, Diana Sousa, Vladimir Ghilas, et al.
European Journal of Pediatrics|January 8, 2014
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal studyLaura Deroma, Mattia Guerra, Annalisa Sechi, et al.
Biomolecules|March 29, 2023
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction ModelFrancesca D'Avanzo, Alessandra Zanetti, Andrea Dardis, et al.
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