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Mirella Filocamo

Showing results (81-90 of 103) 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.
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.
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.
Human Mutation|July 9, 2004
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patientsShunji Tomatsu, Mirella Filocamo, Koji O Orii, et al.
Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.
Gigascience|May 3, 2013
Quantifying the use of bioresources for promoting their sharing in scientific researchLaurence Mabile, Raymond Dalgleish, Gudmundur A Thorisson, et al.
Italian Journal of Pediatrics|November 17, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancyFrancesca Furlan, Attilio Rovelli, Miriam Rigoldi, 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.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, et al.
Orphanet Journal of Rare Diseases|September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher diseaseYildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Pageof 11

Showing results (81-90 of 103) 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.
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.
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.
Human Mutation|July 9, 2004
Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patientsShunji Tomatsu, Mirella Filocamo, Koji O Orii, et al.
Human Mutation|July 28, 2009
Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patientsBarbara Tappino, Nadia A Chuzhanova, Stefano Regis, et al.
Gigascience|May 3, 2013
Quantifying the use of bioresources for promoting their sharing in scientific researchLaurence Mabile, Raymond Dalgleish, Gudmundur A Thorisson, et al.
Italian Journal of Pediatrics|November 17, 2018
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancyFrancesca Furlan, Attilio Rovelli, Miriam Rigoldi, 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.
Orphanet Journal of Rare Diseases|June 18, 2011
Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutationsSerena Grossi, Stefano Regis, Roberta Biancheri, et al.
Orphanet Journal of Rare Diseases|September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher diseaseYildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Pageof 11