Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Elisa Goina

Showing results (1-10 of 11) with videos related to

Pageof 2
Sort By:
Molecular and Cellular Biology|April 9, 2008
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutantElisa Goina, Natasa Skoko, Franco Pagani
Nucleic Acids Research|July 9, 2015
Upregulating endogenous genes by an RNA-programmable artificial transactivatorCristina Fimiani, Elisa Goina, Antonello Mallamaci
Methods in Molecular Biology (Clifton, N.J.)|May 20, 2011
Approaches to study CFTR pre-mRNA splicing defectsElisa Goina, Eugenio Fernandez-Alanis, Franco Pagani
Human Mutation|July 14, 2019
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technologyElisa Goina, Lorena Musco, Andrea Dardis, et al.
Scientific Reports|December 21, 2016
RNA activation of haploinsufficient Foxg1 gene in murine neocortexCristina Fimiani, Elisa Goina, Qin Su, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 21, 2017
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense TechnologyElisa Goina, Paolo Peruzzo, Bruno Bembi, et al.
Molecular Medicine (Cambridge, Mass.)|February 5, 2025
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNAPaolo Peruzzo, Natascha Bergamin, Martina Bon, et al.
The Journal of Pathology|March 19, 2019
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assaysEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Molecular Therapy. Methods & Clinical Development|January 11, 2021
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblastsEmanuele Buratti, Paolo Peruzzo, Luca Braga, et al.
Human Mutation|December 3, 2009
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Molecular and Cellular Biology|April 9, 2008
Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutantElisa Goina, Natasa Skoko, Franco Pagani
Nucleic Acids Research|July 9, 2015
Upregulating endogenous genes by an RNA-programmable artificial transactivatorCristina Fimiani, Elisa Goina, Antonello Mallamaci
Methods in Molecular Biology (Clifton, N.J.)|May 20, 2011
Approaches to study CFTR pre-mRNA splicing defectsElisa Goina, Eugenio Fernandez-Alanis, Franco Pagani
Human Mutation|July 14, 2019
Assessment of the functional impact on the pre-mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technologyElisa Goina, Lorena Musco, Andrea Dardis, et al.
Scientific Reports|December 21, 2016
RNA activation of haploinsufficient Foxg1 gene in murine neocortexCristina Fimiani, Elisa Goina, Qin Su, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|June 21, 2017
Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense TechnologyElisa Goina, Paolo Peruzzo, Bruno Bembi, et al.
Molecular Medicine (Cambridge, Mass.)|February 5, 2025
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNAPaolo Peruzzo, Natascha Bergamin, Martina Bon, et al.
The Journal of Pathology|March 19, 2019
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assaysEugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, et al.
Molecular Therapy. Methods & Clinical Development|January 11, 2021
Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblastsEmanuele Buratti, Paolo Peruzzo, Luca Braga, et al.
Human Mutation|December 3, 2009
A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophyMyriam Vezain, Pascale Saugier-Veber, Elisa Goina, et al.
Pageof 2