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The Journal of Molecular Diagnostics : JMD|July 21, 2017
GBA Analysis in Next-Generation Era: Pitfalls, Challenges, and Possible SolutionsStefania Zampieri, Silvia Cattarossi, Bruno Bembi, et al.
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.
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.
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.
Clinical Genetics|July 18, 2024
The c.-265G>A GLA gene promoter variant causes Fabry disease: The hidden culprit identifiedStefania Zampieri, Silvia Cattarossi, Lorenzo Ferri, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|May 29, 2015
Role of LIMP-2 in the intracellular trafficking of β-glucosidase in different human cellular modelsErika Malini, Stefania Zampieri, Marta Deganuto, et al.
Molecular Genetics and Metabolism|November 2, 2010
Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination eventMonica Cozar, Bruno Bembi, Silvia Dominissini, et al.
Journal of Experimental Botany|November 24, 2004
Reduction of cell size induced by enod40 in Arabidopsis thalianaFlavia Guzzo, Paolo Portaluppi, Romeo Grisi, et al.
European Journal of Human Genetics : EJHG|December 24, 2010
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypesStefania Zampieri, Emanuele Buratti, Silvia Dominissini, et al.
Genes|January 25, 2025
Expanding the Molecular Spectrum of MMP21 Missense Variants: Clinical Insights and Literature ReviewDomizia Pasquetti, Paola Tesolin, Federica Perino, et al.
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