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Mirella Filocamo

Showing results (1-10 of 103) with videos related to

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Human Genomics|April 21, 2011
Lysosomal storage disorders: molecular basis and laboratory testingMirella Filocamo, Amelia Morrone
Human Molecular Genetics|December 21, 2012
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher diseaseGali Maor, Mirella Filocamo, Mia Horowitz
Italian Journal of Pediatrics|November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must knowMirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
DNA Sequence : the Journal of DNA Sequencing and Mapping|February 21, 2003
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase geneStefano Regis, Fabio Dagnino, Francesco Caroli, et al.
Blood Cells, Molecules & Diseases|November 26, 2010
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variantInna Bendikov-Bar, Idit Ron, Mirella Filocamo, et al.
Blood Cells, Molecules & Diseases|November 20, 2012
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidaseInna Bendikov-Bar, Gali Maor, Mirella Filocamo, et al.
Human Genetics|February 13, 2003
An Alu-mediated rearrangement as cause of exon skipping in Hunter diseaseVerena Ricci, Stefano Regis, Marco Di Duca, et al.
Pathology, Research and Practice|June 18, 2004
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsyRenata Boldrini, Rita Devito, Roberto Biselli, et al.
Biochimica Et Biophysica Acta|April 21, 2009
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patientsStefano Regis, Serena Grossi, Fabio Corsolini, 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.
Pageof 11

Showing results (1-10 of 103) with videos related to

Sort By:
Pageof 11
Human Genomics|April 21, 2011
Lysosomal storage disorders: molecular basis and laboratory testingMirella Filocamo, Amelia Morrone
Human Molecular Genetics|December 21, 2012
ITCH regulates degradation of mutant glucocerebrosidase: implications to Gaucher diseaseGali Maor, Mirella Filocamo, Mia Horowitz
Italian Journal of Pediatrics|November 17, 2018
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must knowMirella Filocamo, Rosella Tomanin, Francesca Bertola, et al.
DNA Sequence : the Journal of DNA Sequencing and Mapping|February 21, 2003
Genomic structure of the human UDP-GlcNAc:dolichol-P GlcNAc-1-P transferase geneStefano Regis, Fabio Dagnino, Francesco Caroli, et al.
Blood Cells, Molecules & Diseases|November 26, 2010
Characterization of the ERAD process of the L444P mutant glucocerebrosidase variantInna Bendikov-Bar, Idit Ron, Mirella Filocamo, et al.
Blood Cells, Molecules & Diseases|November 20, 2012
Ambroxol as a pharmacological chaperone for mutant glucocerebrosidaseInna Bendikov-Bar, Gali Maor, Mirella Filocamo, et al.
Human Genetics|February 13, 2003
An Alu-mediated rearrangement as cause of exon skipping in Hunter diseaseVerena Ricci, Stefano Regis, Marco Di Duca, et al.
Pathology, Research and Practice|June 18, 2004
Wolman disease and cholesteryl ester storage disease diagnosed by histological and ultrastructural examination of intestinal and liver biopsyRenata Boldrini, Rita Devito, Roberto Biselli, et al.
Biochimica Et Biophysica Acta|April 21, 2009
PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patientsStefano Regis, Serena Grossi, Fabio Corsolini, 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.
Pageof 11