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Bruno Bembi

Showing results (31-40 of 101) with videos related to

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Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, 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.
American Journal of Medical Genetics. Part A|August 19, 2003
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type IIMaria Gabriela Pittis, Anna Lisa E Montalvo, Snjezana Miocic, et al.
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.
Molecular Genetics and Metabolism|February 20, 2004
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the diseaseAnna Lisa E Montalvo, Roberta Cariati, Marta Deganuto, 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.
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.
Clinical Genetics|November 20, 2018
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 geneAndrea Dardis, Annalisa Pianta, Stefania Zampieri, 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.
Journal of Cellular Physiology|April 20, 2007
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stressMarta Deganuto, Maria Gabriela Pittis, Alex Pines, et al.
Pageof 11

Showing results (31-40 of 101) with videos related to

Sort By:
Pageof 11
Journal of Molecular Medicine (Berlin, Germany)|May 16, 2006
Multiple cryptic splice sites can be activated by IDS point mutations generating misspliced transcriptsSusanna Lualdi, Maria G Pittis, Stefano Regis, 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.
American Journal of Medical Genetics. Part A|August 19, 2003
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type IIMaria Gabriela Pittis, Anna Lisa E Montalvo, Snjezana Miocic, et al.
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.
Molecular Genetics and Metabolism|February 20, 2004
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the diseaseAnna Lisa E Montalvo, Roberta Cariati, Marta Deganuto, 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.
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.
Clinical Genetics|November 20, 2018
Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 geneAndrea Dardis, Annalisa Pianta, Stefania Zampieri, 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.
Journal of Cellular Physiology|April 20, 2007
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stressMarta Deganuto, Maria Gabriela Pittis, Alex Pines, et al.
Pageof 11