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

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

Next-Generation Sequencing Analysis of MiRNA Expression in Control and FSHD Myogenesis

por Colangelo, Veronica, François, Stéphanie, Soldà, Giulia, Picco, Raffaella, Roma, Francesca, Ginelli, Enrico, Meneveri, Raffaella
Publicado 2014

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

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

por Chiereghin, Chiara, Robusto, Michela, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Asselta, Rosanna, Soldà, Giulia
Publicado 2022

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

In-depth characterization of breast cancer tumor-promoting cell transcriptome by RNA sequencing and microarrays

por Callari, Maurizio, Guffanti, Alessandro, Soldà, Giulia, Merlino, Giuseppe, Fina, Emanuela, Brini, Elena, Moles, Anna, Cappelletti, Vera, Daidone, Maria Grazia
Publicado 2015

Non-random retention of protein-coding overlapping genes in Metazoa

por Soldà, Giulia, Suyama, Mikita, Pelucchi, Paride, Boi, Silvia, Guffanti, Alessandro, Rizzi, Ermanno, Bork, Peer, Tenchini, Maria Luisa, Ciccarelli, Francesca D
Publicado 2008

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

X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases

por Mastrangelo, Antonio, Giani, Marisa, Groppali, Elena, Castorina, Pierangela, Soldà, Giulia, Robusto, Michela, Fallerini, Chiara, Bruttini, Mirella, Renieri, Alessandra, Montini, Giovanni
Publicado 2020

4q-D4Z4 chromatin architecture regulates the transcription of muscle atrophic genes in facioscapulohumeral muscular dystrophy

por Cortesi, Alice, Pesant, Matthieu, Sinha, Shruti, Marasca, Federica, Sala, Eleonora, Gregoretti, Francesco, Antonelli, Laura, Oliva, Gennaro, Chiereghin, Chiara, Soldà, Giulia, Bodega, Beatrice
Publicado 2019

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