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

por Paraboschi, Elvezia Maria, Duga, Stefano, Asselta, Rosanna
Publicado 2017

Hereditary Hypofibrinogenemia with Hepatic Storage

por Asselta, Rosanna, Paraboschi, Elvezia Maria, Duga, Stefano
Publicado 2020

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy

por Asselta, Rosanna, Paraboschi, Elvezia Maria, Mantovani, Alberto, Duga, Stefano
Publicado 2020

Editorial: RNA Splicing and Backsplicing: Disease and Therapy

por Asselta, Rosanna, Duga, Stefano, Velasco, Eladio Andrés, Buratti, Emanuele
Publicado 2020

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

por Paraboschi, Elvezia Maria, Cardamone, Giulia, Soldà, Giulia, Duga, Stefano, Asselta, Rosanna
Publicado 2018

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

por Paraboschi, Elvezia Maria, Menegatti, Marzia, Peyvandi, Flora, Duga, Stefano, Asselta, Rosanna
Publicado 2019

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

por Cardamone, Giulia, Paraboschi, Elvezia Maria, Rimoldi, Valeria, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna
Publicado 2017

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients

por Cardamone, Giulia, Paraboschi, Elvezia Maria, Soldà, Giulia, Duga, Stefano, Saarela, Janna, Asselta, Rosanna
Publicado 2018

Dual Role of G-runs and hnRNP F in the Regulation of a Mutation-Activated Pseudoexon in the Fibrinogen Gamma-Chain Transcript

por Rimoldi, Valeria, Soldà, Giulia, Asselta, Rosanna, Spena, Silvia, Stuani, Cristiana, Buratti, Emanuele, Duga, Stefano
Publicado 2013

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

por Straniero, Letizia, Rimoldi, Valeria, Soldà, Giulia, Bellini, Melissa, Biasucci, Giacomo, Asselta, Rosanna, Duga, Stefano
Publicado 2018

First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family

por Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Publicado 2015

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

por Paraboschi, Elvezia Maria, Cardamone, Giulia, Rimoldi, Valeria, Gemmati, Donato, Spreafico, Marta, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna
Publicado 2015

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

por Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Publicado 2012

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

por Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Publicado 2017

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

por Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Publicado 2021

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population

por Trotta, Luca, Guella, Ilaria, Soldà, Giulia, Sironi, Francesca, Tesei, Silvana, Canesi, Margherita, Pezzoli, Gianni, Goldwurm, Stefano, Duga, Stefano, Asselta, Rosanna
Publicado 2012

Glucocerebrosidase mutations in primary parkinsonism

por Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano
Publicado 2014

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

por Asselta, Rosanna, Di Tommaso, Luca, Perrino, Matteo, Destro, Annarita, Giordano, Laura, Cardamone, Giulia, Rubino, Luca, Santoro, Armando, Duga, Stefano, Zucali, Paolo Andrea
Publicado 2021

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p

por Straniero, Letizia, Rimoldi, Valeria, Samarani, Maura, Goldwurm, Stefano, Di Fonzo, Alessio, Krüger, Rejko, Deleidi, Michela, Aureli, Massimo, Soldà, Giulia, Duga, Stefano, Asselta, Rosanna
Publicado 2017

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

por Paraboschi, Elvezia Maria, Soldà, Giulia, Gemmati, Donato, Orioli, Elisa, Zeri, Giulia, Benedetti, Maria Donata, Salviati, Alessandro, Barizzone, Nadia, Leone, Maurizio, Duga, Stefano, Asselta, Rosanna
Publicado 2011