Merkel Cell Carcinomas Arising in Autoimmune Disease Affected Patients Treated with Biologic Drugs, Including Anti-TNF
Rotondo, John Charles, Bononi, Ilaria, Puozzo, Andrea, Govoni, Marcello, Foschi, Valentina, Lanza, Giovanni, Gafà, Roberta, Gaboriaud, Pauline, Touzé, Françoise Antoine, Selvatici, Rita, Martini, Fernanda, Tognon, Mauro
Published in Clinical cancer research (15.07.2017)
Published in Clinical cancer research (15.07.2017)
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Journal Article
DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis
Fortunato, Fernanda, Tonelli, Laura, Farnè, Marianna, Selvatici, Rita, Ferlini, Alessandra
Published in Frontiers in neurology (15.01.2024)
Published in Frontiers in neurology (15.01.2024)
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Journal Article
mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies
Falzarano, Maria Sofia, Mietto, Martina, Fortunato, Fernanda, Farnè, Marianna, Martini, Fernanda, Ala, Pierpaolo, Selvatici, Rita, Muntoni, Francesco, Ferlini, Alessandra
Published in Scientific reports (24.09.2023)
Published in Scientific reports (24.09.2023)
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Journal Article
SERPINA1 Gene Promoter Is Differentially Methylated in Peripheral Blood Mononuclear Cells of Pregnant Women
Rotondo, John Charles, Oton-Gonzalez, Lucia, Selvatici, Rita, Rizzo, Paola, Pavasini, Rita, Campo, Gianluca Calogero, Lanzillotti, Carmen, Mazziotta, Chiara, De Mattei, Monica, Tognon, Mauro, Martini, Fernanda
Published in Frontiers in cell and developmental biology (03.09.2020)
Published in Frontiers in cell and developmental biology (03.09.2020)
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Journal Article
Report of a novel ATP7A mutation causing distal motor neuropathy
Gualandi, Francesca, Sette, Elisabetta, Fortunato, Fernanda, Bigoni, Stefania, De Grandis, Domenico, Scotton, Chiara, Selvatici, Rita, Neri, Marcella, Incensi, Alex, Liguori, Rocco, Storbeck, Markus, Karakaya, Mert, Simioni, Valentina, Squarzoni, Stefano, Timmerman, Vincent, Wirth, Brunhilde, Donadio, Vincenzo, Tugnoli, Valeria, Ferlini, Alessandra
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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Journal Article
Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients
Balla, Cristina, Conte, Elena, Selvatici, Rita, Marsano, Renè Massimiliano, Gerbino, Andrea, Farnè, Marianna, Blunck, Rikard, Vitali, Francesco, Armaroli, Annarita, Brieda, Alessandro, Liantonio, Antonella, De Luca, Annamaria, Ferlini, Alessandra, Rapezzi, Claudio, Bertini, Matteo, Gualandi, Francesca, Imbrici, Paola
Published in International journal of molecular sciences (17.06.2021)
Published in International journal of molecular sciences (17.06.2021)
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Journal Article
Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype
Falzarano, Maria Sofia, D'Amario, Domenico, Siracusano, Andrea, Massetti, Massimo, Amodeo, Antonio, La Neve, Federica, Maroni, Camilla Reina, Mercuri, Eugenio, Osman, Hana, Scotton, Chiara, Armaroli, Annarita, Rossi, Rachele, Selvatici, Rita, Crea, Filippo, Ferlini, Alessandra
Published in Human gene therapy (01.10.2016)
Published in Human gene therapy (01.10.2016)
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Journal Article
High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases
Malagutti, Nicola, Rotondo, John Charles, Cerritelli, Luca, Melchiorri, Claudio, De Mattei, Monica, Selvatici, Rita, Oton-Gonzalez, Lucia, Stomeo, Francesco, Mazzoli, Manuela, Borin, Michela, Mores, Beatrice, Ciorba, Andrea, Tognon, Mauro, Pelucchi, Stefano, Martini, Fernanda
Published in Pathogens (Basel) (18.03.2020)
Published in Pathogens (Basel) (18.03.2020)
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Journal Article
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
Falzarano, Maria Sofia, Rossi, Rachele, Grilli, Andrea, Fang, Mingyan, Osman, Hana, Sabatelli, Patrizia, Antoniel, Manuela, Lu, Zhiyuan, Li, Wenyan, Selvatici, Rita, Al-Khalili, Cristina, Gualandi, Francesca, Bicciato, Silvio, Torelli, Silvia, Ferlini, Alessandra
Published in Frontiers in physiology (20.10.2021)
Published in Frontiers in physiology (20.10.2021)
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Journal Article
Detection of Merkel Cell Polyomavirus DNA in Serum Samples of Healthy Blood Donors
Mazzoni, Elisa, Rotondo, John C, Marracino, Luisa, Selvatici, Rita, Bononi, Ilaria, Torreggiani, Elena, Touzé, Antoine, Martini, Fernanda, Tognon, Mauro G
Published in Frontiers in oncology (29.11.2017)
Published in Frontiers in oncology (29.11.2017)
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Journal Article
Brugada Syndrome: More than a Monogenic Channelopathy
Liantonio, Antonella, Bertini, Matteo, Mele, Antonietta, Balla, Cristina, Dinoi, Giorgia, Selvatici, Rita, Mele, Marco, De Luca, Annamaria, Gualandi, Francesca, Imbrici, Paola
Published in Biomedicines (01.08.2023)
Published in Biomedicines (01.08.2023)
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Journal Article
Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy
Scotton, Chiara, Bovolenta, Matteo, Schwartz, Elena, Falzarano, Maria Sofia, Martoni, Elena, Passarelli, Chiara, Armaroli, Annarita, Osman, Hana, Rodolico, Carmelo, Messina, Sonia, Pegoraro, Elena, D'Amico, Adele, Bertini, Enrico, Gualandi, Francesca, Neri, Marcella, Selvatici, Rita, Boffi, Patrizia, Maioli, Maria Antonietta, Lochmüller, Hanns, Straub, Volker, Bushby, Katherine, Castrignanò, Tiziana, Pesole, Graziano, Sabatelli, Patrizia, Merlini, Luciano, Braghetta, Paola, Bonaldo, Paolo, Bernardi, Paolo, Foley, Reghan, Cirak, Sebahattin, Zaharieva, Irina, Muntoni, Francesco, Capitanio, Daniele, Gelfi, Cecilia, Kotelnikova, Ekaterina, Yuryev, Anton, Lebowitz, Michael, Zhang, Xiping, Hodge, Brian A, Esser, Karyn A, Ferlini, Alessandra
Published in Journal of cell science (15.04.2016)
Published in Journal of cell science (15.04.2016)
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Journal Article
Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes
Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo
Published in Brain sciences (22.08.2021)
Published in Brain sciences (22.08.2021)
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Journal Article
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy
Passarelli, Chiara, Selvatici, Rita, Carrieri, Alberto, Di Raimo, Francesca Romana, Falzarano, Maria Sofia, Fortunato, Fernanda, Rossi, Rachele, Straub, Volker, Bushby, Katie, Reza, Mojgan, Zharaieva, Irina, D'Amico, Adele, Bertini, Enrico, Merlini, Luciano, Sabatelli, Patrizia, Borgiani, Paola, Novelli, Giuseppe, Messina, Sonia, Pane, Marika, Mercuri, Eugenio, Claustres, Mireille, Tuffery-Giraud, Sylvie, Aartsma-Rus, Annemieke, Spitali, Pietro, T'Hoen, Peter A C, Lochmüller, Hanns, Strandberg, Kristin, Al-Khalili, Cristina, Kotelnikova, Ekaterina, Lebowitz, Michael, Schwartz, Elena, Muntoni, Francesco, Scapoli, Chiara, Ferlini, Alessandra
Published in Frontiers in genetics (03.07.2020)
Published in Frontiers in genetics (03.07.2020)
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Journal Article
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
Falzarano, Maria S., Grilli, Andrea, Zia, Silvia, Fang, Mingyan, Rossi, Rachele, Gualandi, Francesca, Rimessi, Paola, El Dani, Reem, Fabris, Marina, Lu, Zhiyuan, Li, Wenyan, Mongini, Tiziana, Ricci, Federica, Pegoraro, Elena, Bello, Luca, Barp, Andrea, Sansone, Valeria A., Hegde, Madhuri, Roda, Barbara, Reschiglian, Pierluigi, Bicciato, Silvio, Selvatici, Rita, Ferlini, Alessandra
Published in HGG advances (13.01.2022)
Published in HGG advances (13.01.2022)
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Journal Article
Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy?
Farnè, Marianna, Balla, Cristina, Margutti, Alice, Selvatici, Rita, De Raffele, Martina, Di Domenico, Assunta, Imbrici, Paola, De Maria, Elia, Biffi, Mauro, Bertini, Matteo, Rapezzi, Claudio, Ferlini, Alessandra, Gualandi, Francesca
Published in Cardiogenetics (01.09.2021)
Published in Cardiogenetics (01.09.2021)
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Journal Article
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype
Brioschi, Simona, Gualandi, Francesca, Scotton, Chiara, Armaroli, Annarita, Bovolenta, Matteo, Falzarano, Maria S, Sabatelli, Patrizia, Selvatici, Rita, D'Amico, Adele, Pane, Marika, Ricci, Giulia, Siciliano, Gabriele, Tedeschi, Silvana, Pini, Antonella, Vercelli, Liliana, De Grandis, Domenico, Mercuri, Eugenio, Bertini, Enrico, Merlini, Luciano, Mongini, Tiziana, Ferlini, Alessandra
Published in BMC genetics (16.08.2012)
Published in BMC genetics (16.08.2012)
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Journal Article
Paternal germline mosaicism in collagen VI related myopathies
Armaroli, Annarita, Trabanelli, Cecilia, Scotton, Chiara, Venturoli, Anna, Selvatici, Rita, Brisca, Giacomo, Merlini, Luciano, Bruno, Claudio, Ferlini, Alessandra, Gualandi, Francesca
Published in European journal of paediatric neurology (01.09.2015)
Published in European journal of paediatric neurology (01.09.2015)
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Journal Article
Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family
Bigoni, Stefania, Neri, Marcella, Scotton, Chiara, Farina, Roberto, Sabatelli, Patrizia, Jiang, Chongyi, Zhang, Jianguo, Falzarano, Maria Sofia, Rossi, Rachele, Ognibene, Davide, Selvatici, Rita, Gualandi, Francesca, Bosshardt, Dieter, Perri, Paolo, Campa, Claudio, Brancati, Francesco, Salvatore, Marco, De Stefano, Maria Chiara, Taruscio, Domenica, Trombelli, Leonardo, Fang, Mingyan, Ferlini, Alessandra
Published in Frontiers in genetics (2019)
Published in Frontiers in genetics (2019)
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