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Bruno Bembi

Showing results (71-80 of 101) with videos related to

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Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.
Neurogenetics|March 3, 2009
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutationsTatiana Fancello, Andrea Dardis, Camillo Rosano, et al.
Molecular Genetics and Metabolism|August 4, 2009
Recommendations on the diagnosis and management of Niemann-Pick disease type C, James E Wraith, Matthias R Baumgartner, et al.
Orphanet Journal of Rare Diseases|June 8, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over studyAnnalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe DiseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 11, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe diseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Ebiomedicine|December 1, 2018
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidaseCathrine K Fog, Paola Zago, Erika Malini, et al.
Journal of Inherited Metabolic Disease|November 11, 2019
Mechanistic convergence and shared therapeutic targets in Niemann-Pick diseaseAlexandria Colaco, Ecem Kaya, Elias Adriaenssens, et al.
Autophagy|June 27, 2007
Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sandNina Raben, Shoichi Takikita, Maria G Pittis, et al.
Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.
Pageof 11

Showing results (71-80 of 101) with videos related to

Sort By:
Pageof 11
Human Mutation|January 28, 2010
Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndromeSusanna Lualdi, Barbara Tappino, Marco Di Duca, et al.
Neurogenetics|March 3, 2009
Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutationsTatiana Fancello, Andrea Dardis, Camillo Rosano, et al.
Molecular Genetics and Metabolism|August 4, 2009
Recommendations on the diagnosis and management of Niemann-Pick disease type C, James E Wraith, Matthias R Baumgartner, et al.
Orphanet Journal of Rare Diseases|June 8, 2020
Exercise training alone or in combination with high-protein diet in patients with late onset Pompe disease: results of a cross over studyAnnalisa Sechi, Lucrezia Zuccarelli, Bruno Grassi, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 10, 2017
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe DiseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|January 11, 2007
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe diseaseGiancarlo Parenti, Alfredo Zuppaldi, M Gabriela Pittis, et al.
Ebiomedicine|December 1, 2018
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidaseCathrine K Fog, Paola Zago, Erika Malini, et al.
Journal of Inherited Metabolic Disease|November 11, 2019
Mechanistic convergence and shared therapeutic targets in Niemann-Pick diseaseAlexandria Colaco, Ecem Kaya, Elias Adriaenssens, et al.
Autophagy|June 27, 2007
Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sandNina Raben, Shoichi Takikita, Maria G Pittis, et al.
Plos One|August 1, 2012
Sequence and copy number analyses of HEXB gene in patients affected by Sandhoff disease: functional characterization of 9 novel sequence variantsStefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, et al.
Pageof 11