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Nucleic Acids Research|October 24, 2013
Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agentsAndrea Dardis, Irene Zanin, Stefania Zampieri, et al.Orphanet Journal of Rare Diseases|February 26, 2013
A human neuronal model of Niemann Pick C disease developed from stem cells isolated from patient's skinNatascha Bergamin, Andrea Dardis, Antonio Beltrami, et al.Molecular Genetics and Metabolism|August 27, 2013
Efficacy of miglustat in Niemann-Pick C disease: a single centre experienceVirginia Maria Ginocchio, Adele D'Amico, Enrico Bertini, et al.Human Molecular Genetics|April 6, 2017
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 diseaseSonia Canterini, Jessica Dragotto, Andrea Dardis, et al.International Journal of Molecular Sciences|June 27, 2024
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 DysfunctionsEleonora Pavan, Paolo Peruzzo, Silvia Cattarossi, et al.Neuromuscular Disorders : NMD|April 24, 2017
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe diseaseAnnalisa Sechi, Desy Salvadego, Alessandro Da Ponte, et al.Human Mutation|October 27, 2015
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel VariantsStefania Zampieri, Mirella Filocamo, Annalisa Pianta, et al.Orphanet Journal of Rare Diseases|September 2, 2017
Chronic pain in Gaucher disease: skeletal or neuropathic origin?Grazia Devigili, Michele De Filippo, Giovanni Ciana, et al.Journal of Neurology|February 27, 2014
Central cholinergic dysfunction in the adult form of Niemann Pick disease type C: a further link with Alzheimer's disease?Fiore Manganelli, Raffaele Dubbioso, Rosa Iodice, et al.Neurogenetics|September 2, 2008
Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel allelesStefania Zampieri, Mirella Filocamo, Emanuele Buratti, et al.Pageof 10