Concepedia

Elisa Goina

EG

Statistics

Publications

6

Citations

310

H-Index

6

Active since

2008

Affiliations

International Centre for Genetic Engineering and Biotechnology(Current)

Ospedale Santa Maria della Misericordia di Udine

Elisa Goina is an author at International Centre for Genetic Engineering and Biotechnology specializing in genetics, life sciences, and rna splicing.

Publications per year

2008–2019

6

Publications

6

A rare<i>SMN2</i>variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

Myriam Vézain, Pascale Saugier-Véber, Elisa Goina et al. · Human Mutation · 2009 · 125 citations · Full text

, , +17

Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant

Elisa Goina, Nataša Skoko · Molecular and Cellular Biology · 2008 · 84 citations

, , +16

Mis‐splicing in breast cancer: identification of pathogenic <i>BRCA2</i> variants by systematic minigene assays

Eugenia Fraile‐Bethencourt, Alberto Valenzuela‐Palomo, Beatriz Díez‐Gómez et al. · The Journal of Pathology · 2019 · 37 citations

, , +17

Glycogen Reduction in Myotubes of Late-Onset Pompe Disease Patients Using Antisense Technology

Elisa Goina, Paolo Peruzzo, Bruno Bembi et al. · Molecular Therapy · 2017 · 33 citations · Full text

, , +15

RNA activation of haploinsufficient Foxg1 gene in murine neocortex

Cristina Fimiani, Elisa Goina, Qin Su et al. · Scientific Reports · 2016 · 21 citations · Full text

, , +12

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