Hereditary Hypofibrinogenemia with Hepatic Storage
Asselta, Rosanna, Paraboschi, Elvezia Maria, Duga, Stefano
Published in International journal of molecular sciences (22.10.2020)
Published in International journal of molecular sciences (22.10.2020)
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Journal Article
Recognition and inhibition of SARS-CoV-2 by humoral innate immunity pattern recognition molecules
Stravalaci, Matteo, Pagani, Isabel, Paraboschi, Elvezia Maria, Pedotti, Mattia, Doni, Andrea, Scavello, Francesco, Mapelli, Sarah N., Sironi, Marina, Perucchini, Chiara, Varani, Luca, Matkovic, Milos, Cavalli, Andrea, Cesana, Daniela, Gallina, Pierangela, Pedemonte, Nicoletta, Capurro, Valeria, Clementi, Nicola, Mancini, Nicasio, Invernizzi, Pietro, Bayarri-Olmos, Rafael, Garred, Peter, Rappuoli, Rino, Duga, Stefano, Bottazzi, Barbara, Uguccioni, Mariagrazia, Asselta, Rosanna, Vicenzi, Elisa, Mantovani, Alberto, Garlanda, Cecilia
Published in Nature immunology (01.02.2022)
Published in Nature immunology (01.02.2022)
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Journal Article
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters
Cilia, Roberto, Tunesi, Sara, Marotta, Giorgio, Cereda, Emanuele, Siri, Chiara, Tesei, Silvana, Zecchinelli, Anna L., Canesi, Margherita, Mariani, Claudio B., Meucci, Nicoletta, Sacilotto, Giorgio, Zini, Michela, Barichella, Michela, Magnani, Corrado, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia, Seresini, Agostino, Seia, Manuela, Pezzoli, Gianni, Goldwurm, Stefano
Published in Annals of neurology (01.11.2016)
Published in Annals of neurology (01.11.2016)
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Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer
Kirienko, Margarita, Sollini, Martina, Corbetta, Marinella, Voulaz, Emanuele, Gozzi, Noemi, Interlenghi, Matteo, Gallivanone, Francesca, Castiglioni, Isabella, Asselta, Rosanna, Duga, Stefano, Soldà, Giulia, Chiti, Arturo
Published in European journal of nuclear medicine and molecular imaging (01.10.2021)
Published in European journal of nuclear medicine and molecular imaging (01.10.2021)
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Journal Article
The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis
Cardamone, Giulia, Paraboschi, Elvezia Maria, Rimoldi, Valeria, Duga, Stefano, Soldà, Giulia, Asselta, Rosanna
Published in International journal of molecular sciences (07.03.2017)
Published in International journal of molecular sciences (07.03.2017)
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Journal Article
Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
Yau, Wai Yan, Vandrovcova, Jana, Sullivan, Roisin, Chen, Zhongbo, Zecchinelli, Anna, Cilia, Roberto, Stefano, Duga, Murray, Malgorzata, Carmona, Susana, Chelban, Viorica, Ishiura, Hiroyuki, Tsuji, Shoji, Jaunmuktane, Zane, Turner, Chris, Wood, Nicholas W., Houlden, Henry
Published in Movement disorders (01.01.2021)
Published in Movement disorders (01.01.2021)
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Journal Article
DNAJC12 and dopa‐responsive nonprogressive parkinsonism
Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Kenya, Hattori, Nobutaka, Follett, Jordan, Rajput, Alex, Blau, Nenad, Pezzoli, Gianni, Farrer, Matthew J., Goldwurm, Stefano, Rajput, Ali H., Duga, Stefano
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
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Journal Article
In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear
Chiereghin, Chiara, Robusto, Michela, Lewis, Morag A, Caetano, Susana, Massa, Valentina, Castorina, Pierangela, Ambrosetti, Umberto, Steel, Karen P, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (01.01.2023)
Published in PloS one (01.01.2023)
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Journal Article
Profiling the mutational landscape of coagulation factor V deficiency
Paraboschi, Elvezia Maria, Menegatti, Marzia, Rimoldi, Valeria, Borhany, Munira, Abdelwahab, Magy, Gemmati, Donato, Peyvandi, Flora, Duga, Stefano, Asselta, Rosanna
Published in Haematologica (Roma) (01.04.2020)
Published in Haematologica (Roma) (01.04.2020)
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Journal Article
First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family
Soldà, Giulia, Caccia, Sonia, Robusto, Michela, Chiereghin, Chiara, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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Journal Article
A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing
Soldà, Giulia, Robusto, Michela, Primignani, Paola, Castorina, Pierangela, Benzoni, Elena, Cesarani, Antonio, Ambrosetti, Umberto, Asselta, Rosanna, Duga, Stefano
Published in Human molecular genetics (01.02.2012)
Published in Human molecular genetics (01.02.2012)
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Journal Article
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis
Chiereghin, Chiara, Robusto, Michela, Mastrangelo, Antonio, Castorina, Pierangela, Montini, Giovanni, Giani, Marisa, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in PloS one (01.06.2017)
Published in PloS one (01.06.2017)
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Journal Article
Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease
Paraboschi, Elvezia Maria, Khera, Amit Vikram, Merlini, Piera Angelica, Gigante, Laura, Peyvandi, Flora, Chaffin, Mark, Menegatti, Marzia, Busti, Fabiana, Girelli, Domenico, Martinelli, Nicola, Olivieri, Oliviero, Kathiresan, Sekar, Ardissino, Diego, Asselta, Rosanna, Duga, Stefano
Published in Haematologica (Roma) (01.07.2020)
Published in Haematologica (Roma) (01.07.2020)
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Journal Article
SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa
Chiereghin, Chiara, Robusto, Michela, Mauri, Lucia, Primignani, Paola, Castorina, Pierangela, Ambrosetti, Umberto, Duga, Stefano, Asselta, Rosanna, Soldà, Giulia
Published in Frontiers in genetics (10.02.2021)
Published in Frontiers in genetics (10.02.2021)
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Journal Article
Editorial: RNA Splicing and Backsplicing: Disease and Therapy
Asselta, Rosanna, Duga, Stefano, Velasco, Eladio Andrés, Buratti, Emanuele
Published in Frontiers in genetics (08.12.2020)
Published in Frontiers in genetics (08.12.2020)
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