Editorial: RNA Splicing and Backsplicing: Disease and Therapy

by Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga, Eladio Andrés Velasco, Eladio Andrés Velasco, Emanuele Buratti
Published 2020-12-01

Hereditary Hypofibrinogenemia with Hepatic Storage

by Rosanna Asselta, Elvezia Maria Paraboschi, Stefano Duga
Published 2020-10-01

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

by Elvezia Maria Paraboschi, Stefano Duga, Rosanna Asselta
Published 2017-12-01

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

by Elvezia Maria Paraboschi, Giulia Cardamone, Giulia Soldà, Giulia Soldà, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta
Published 2018-12-01

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

by Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Giulia Soldà, Melissa Bellini, Giacomo Biasucci, Rosanna Asselta, Rosanna Asselta, Stefano Duga, Stefano Duga
Published 2018-10-01

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

by Chiara Chiereghin, Michela Robusto, Lucia Mauri, Paola Primignani, Pierangela Castorina, Umberto Ambrosetti, Stefano Duga, Stefano Duga, Rosanna Asselta, Rosanna Asselta, Giulia Soldà, Giulia Soldà
Published 2021-02-01

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

by Elvezia Maria Paraboschi, Marzia Menegatti, Flora Peyvandi, Stefano Duga, Rosanna Asselta
Published 2019-02-01

Genetic Association and Altered Gene Expression of <i>CYBB</i> in Multiple Sclerosis Patients

by Giulia Cardamone, Elvezia Maria Paraboschi, Giulia Soldà, Stefano Duga, Janna Saarela, Rosanna Asselta
Published 2018-12-01

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

by Giulia Cardamone, Elvezia Maria Paraboschi, Valeria Rimoldi, Stefano Duga, Giulia Soldà, Rosanna Asselta
Published 2017-03-01

Dual role of G-runs and hnRNP F in the regulation of a mutation-activated pseudoexon in the fibrinogen gamma-chain transcript.

by Valeria Rimoldi, Giulia Soldà, Rosanna Asselta, Silvia Spena, Cristiana Stuani, Emanuele Buratti, Stefano Duga
Published 2013-01-01

Meta-Analysis of Multiple Sclerosis Microarray Data Reveals Dysregulation in RNA Splicing Regulatory Genes

by Elvezia Maria Paraboschi, Giulia Cardamone, Valeria Rimoldi, Donato Gemmati, Marta Spreafico, Stefano Duga, Giulia Soldà, Rosanna Asselta
Published 2015-09-01

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis.

by Chiara Chiereghin, Michela Robusto, Antonio Mastrangelo, Pierangela Castorina, Giovanni Montini, Marisa Giani, Stefano Duga, Rosanna Asselta, Giulia Soldà
Published 2017-01-01

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population

by Ilaria Guella, Rosanna Asselta, Diego Ardissino, Pier Angelica Merlini, Flora Peyvandi, Sekar Kathiresan, Pier Mannuccio Mannucci, Marco Tubaro, Stefano Duga
Published 2010-11-01

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature

by Rosanna Asselta, Luca Di Tommaso, Matteo Perrino, Annarita Destro, Laura Giordano, Giulia Cardamone, Luca Rubino, Armando Santoro, Stefano Duga, Paolo Andrea Zucali
Published 2021-05-01

Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology

by Marinella Corbetta, Chiara Chiereghin, Ilaria De Simone, Ilaria De Simone, Giulia Soldà, Giulia Soldà, Monica Zuradelli, Monica Zuradelli, Michele Giunta, Giovanni Lughezzani, Giovanni Lughezzani, Nicolò Maria Buffi, Nicolò Maria Buffi, Rodolfo Hurle, Alberto Saita, Paolo Casale, Rosanna Asselta, Rosanna Asselta, Massimo Lazzeri, Giorgio Guazzoni, Giorgio Guazzoni, Stefano Duga, Stefano Duga
Published 2021-05-01

Genetic Association and Altered Gene Expression of Mir-155 in Multiple Sclerosis Patients

by Rosanna Asselta, Nadia Barizzone, Maurizio Leone, Alessandro Salviati, Giulia Zeri, Maria Donata Benedetti, Donato Gemmati, Elisa Orioli, Elvezia Maria Paraboschi, Stefano Duga, Giulia Soldà
Published 2011-12-01

How I faced my prostate cancer: a molecular biologist’s perspective

by Monica Zuradelli, Massimo Lazzeri, Egesta Lopci, Paolo Andrea Zucali, Luca Balzarini, Giorgio Guazzoni, Piergiuseppe Colombo, Marta Scorsetti, Ciro Franzese, Rosanna Asselta, Giulia Soldà, Stefano Duga
Published 2021-09-01

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1

by Maria Perez Carrion, Francesca Pischedda, Alice Biosa, Isabella Russo, Letizia Straniero, Laura Civiero, Marianna Guida, Christian J. Gloeckner, Christian J. Gloeckner, Nicola Ticozzi, Nicola Ticozzi, Cinzia Tiloca, Cinzia Tiloca, Claudio Mariani, Gianni Pezzoli, Stefano Duga, Stefano Duga, Irene Pichler, Lifeng Pan, John E. Landers, Elisa Greggio, Michael W. Hess, Stefano Goldwurm, Stefano Goldwurm, Giovanni Piccoli
Published 2018-02-01

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

by Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni
Published 2020-06-01

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

by Aenne S Thormaehlen, Christian Schuberth, Hong-Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiss, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S Lander, Stacey Gabriel, Daniel J Rader, Gina M Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz
Published 2015-02-01