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Stefano Regis

Showing results (31-40 of 42) with videos related to

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Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Gene|December 17, 2013
Critical issues for the proper diagnosis of Metachromatic LeukodystrophyLaura Lorioli, Martina Cesani, Stefano Regis, et al.
Journal of Immunology (Baltimore, Md. : 1950)|July 14, 2017
Imatinib and Nilotinib Off-Target Effects on Human NK Cells, Monocytes, and M2 MacrophagesFrancesca Bellora, Alessandra Dondero, Maria Valeria Corrias, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Cell Death Discovery|March 1, 2026
Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulationMatilde Balbi, Elisa Guidi, Anca Manuela Hristodor, et al.
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.
Annals of Human Genetics|October 16, 2010
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana Bachetti, Eleonora Di Zanni, Francesca Lantieri, 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.
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.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, et al.
Pageof 5

Showing results (31-40 of 42) with videos related to

Sort By:
Pageof 5
Human Mutation|August 12, 2008
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA allelesSerena Grossi, Stefano Regis, Camillo Rosano, et al.
Gene|December 17, 2013
Critical issues for the proper diagnosis of Metachromatic LeukodystrophyLaura Lorioli, Martina Cesani, Stefano Regis, et al.
Journal of Immunology (Baltimore, Md. : 1950)|July 14, 2017
Imatinib and Nilotinib Off-Target Effects on Human NK Cells, Monocytes, and M2 MacrophagesFrancesca Bellora, Alessandra Dondero, Maria Valeria Corrias, et al.
Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.
Cell Death Discovery|March 1, 2026
Beyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulationMatilde Balbi, Elisa Guidi, Anca Manuela Hristodor, et al.
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.
Annals of Human Genetics|October 16, 2010
A novel polymorphic AP-1 binding element of the GFAP promoter is associated with different allelic transcriptional activitiesTiziana Bachetti, Eleonora Di Zanni, Francesca Lantieri, 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.
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.
International Journal of Molecular Sciences|February 24, 2024
Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the <i>SRSF4</i> GeneMaurizio Miano, Nadia Bertola, Alice Grossi, et al.
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