Publications by authors named "Elisa Goina"

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Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.
Paolo Peruzzo, Natascha Bergamin, Martina Bon, Sara Cappelli, Alessandra Longo, Elisa Goina

Mol Med· February 2025

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.
Emanuele Buratti, Paolo Peruzzo, Luca Braga, Irene Zanin, Cristiana Stuani, Elisa Goina

Mol Ther Methods Clin Dev· March 2021

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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 technology.
Elisa Goina, Lorena Musco, Andrea Dardis, Emanuele Buratti

Hum Mutat· November 2019

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Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Eugenia Fraile-Bethencourt, Alberto Valenzuela-Palomo, Beatriz Díez-Gómez, Elisa Goina, Alberto Acedo

J Pathol· August 2019

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Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology.
Elisa Goina, Paolo Peruzzo, Bruno Bembi, Andrea Dardis, Emanuele Buratti

Mol Ther· September 2017

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RNA activation of haploinsufficient Foxg1 gene in murine neocortex.
Cristina Fimiani, Elisa Goina, Qin Su, Guangping Gao, Antonello Mallamaci

Sci Rep· December 2016

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Upregulating endogenous genes by an RNA-programmable artificial transactivator.
Cristina Fimiani, Elisa Goina, Antonello Mallamaci

Nucleic Acids Res· September 2015

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Approaches to study CFTR pre-mRNA splicing defects.
Elisa Goina, Eugenio Fernandez-Alanis, Franco Pagani

Methods Mol Biol· September 2011

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A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy.
Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel

Hum Mutat· January 2010

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Binding of DAZAP1 and hnRNPA1/A2 to an exonic splicing silencer in a natural BRCA1 exon 18 mutant.
Elisa Goina, Natasa Skoko, Franco Pagani

Mol Cell Biol· June 2008

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Quantitative methods for the analysis of CFTR transcripts/splicing variants.
Margarida D Amaral, Luka A Clarke, Anabela S Ramalho, Sebastian Beck, Fiona Broackes-Carter, Elisa Goina

J Cyst Fibros· August 2004

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