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Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|June 22, 2019
Screening for Niemann-Pick type C disease in neurodegenerative diseasesSara Boenzi, Andrea Dardis, Paola Russo, et al.
Molecular Therapy. Methods & Clinical Development|January 11, 2021
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblastsEmanuele Buratti, Paolo Peruzzo, Luca Braga, et al.
Molecular Genetics and Metabolism|August 17, 2014
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patientsAnnalisa Sechi, Laura Deroma, Andrea Dardis, et al.
JIMD Reports|September 9, 2020
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosisLucia Santoro, Lucia Zampini, Lucia Padella, et al.
Scientific Reports|September 14, 2018
Histone acetylation as a new mechanism for bilirubin-induced encephalopathy in the Gunn ratEleonora Vianello, Stefania Zampieri, Thomas Marcuzzo, et al.
International Journal of Molecular Sciences|June 2, 2021
Accurate Molecular Diagnosis of Gaucher Disease Using Clinical Exome Sequencing as a First-Tier TestStefania Zampieri, Silvia Cattarossi, Eleonora Pavan, et al.
Molecular Medicine (Cambridge, Mass.)|February 5, 2025
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNAPaolo Peruzzo, Natascha Bergamin, Martina Bon, et al.
Human Mutation|August 10, 2005
Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel allelesAnna Lisa E Montalvo, Mirella Filocamo, Kristian Vlahovicek, et al.
JIMD Reports|January 17, 2017
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type CAlberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, et al.
Molecular Genetics and Metabolism|May 21, 2009
Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzymeAndrea Dardis, Mirella Filocamo, Serena Grossi, et al.
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