Merkel Cell Carcinomas Arising in Autoimmune Disease Affected Patients Treated with Biologic Drugs, Including Anti-TNF von 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

Volltext

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and provides insights about genetic mechanisms and prognosis von Fortunato, Fernanda, Tonelli, Laura, Farnè, Marianna, Selvatici, Rita, Ferlini, Alessandra

Volltext

mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies von Falzarano, Maria Sofia, Mietto, Martina, Fortunato, Fernanda, Farnè, Marianna, Martini, Fernanda, Ala, Pierpaolo, Selvatici, Rita, Muntoni, Francesco, Ferlini, Alessandra

Volltext

SERPINA1 Gene Promoter Is Differentially Methylated in Peripheral Blood Mononuclear Cells of Pregnant Women von 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

Volltext

Report of a novel ATP7A mutation causing distal motor neuropathy von 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

Volltext

Functional Characterization of Two Novel Mutations in SCN5A Associated with Brugada Syndrome Identified in Italian Patients von Balla, Cristina, Conte, Elena, Selvatici, Rita, Marsano, Rene Massimiliano, Gerbino, Andrea, Farne, Marianna, Blunck, Rikard, Vitali, Francesco, Armaroli, Annarita, Brieda, Alessandro, Liantonio, Antonella, De Luca, Annamaria, Ferlini, Alessandra, Rapezzi, Claudio, Bertini, Matteo, Gualandi, Francesca, Imbrici, Paola

Volltext

Duchenne Muscular Dystrophy Myogenic Cells from Urine-Derived Stem Cells Recapitulate the Dystrophin Genotype and Phenotype von 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

Volltext

High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases von 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

Volltext

Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases von 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

Volltext

Detection of Merkel Cell Polyomavirus DNA in Serum Samples of Healthy Blood Donors von Mazzoni, Elisa, Rotondo, John C, Marracino, Luisa, Selvatici, Rita, Bononi, Ilaria, Torreggiani, Elena, Touzé, Antoine, Martini, Fernanda, Tognon, Mauro G

Volltext

Brugada Syndrome: More than a Monogenic Channelopathy von Liantonio, Antonella, Bertini, Matteo, Mele, Antonietta, Balla, Cristina, Dinoi, Giorgia, Selvatici, Rita, Mele, Marco, De Luca, Annamaria, Gualandi, Francesca, Imbrici, Paola

Volltext

Deep RNA profiling identified CLOCK and molecular clock genes as pathophysiological signatures in collagen VI myopathy von 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

Volltext

Identification of a New Mutation in RSK2, the Gene for Coffin-Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes von Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d'Adamo, Pio Adamo

Volltext

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy von 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., Lochmueller, Hanns, Strandberg, Kristin, Al-Khalili, Cristina, Kotelnikova, Ekaterina, Lebowitz, Michael, Schwartz, Elena, Muntoni, Francesco, Scapoli, Chiara, Ferlini, Alessandra

Volltext

RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing von 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

Volltext

Mutations in MYBPC3 and MYH7 in Association with Brugada Type 1 ECG Pattern: Overlap between Brugada Syndrome and Hypertrophic Cardiomyopathy? von 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

Volltext

Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype von 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

Volltext

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family von 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

Volltext

Paternal germline mosaicism in collagen VI related myopathies von Armaroli, Annarita, Trabanelli, Cecilia, Scotton, Chiara, Venturoli, Anna, Selvatici, Rita, Brisca, Giacomo, Merlini, Luciano, Bruno, Claudio, Ferlini, Alessandra, Gualandi, Francesca

Volltext

Association of Retinoic Acid Receptor β Gene With Onset and Progression of Lichen Sclerosus–Associated Vulvar Squamous Cell Carcinoma von Rotondo, John Charles, Borghi, Alessandro, Selvatici, Rita, Mazzoni, Elisa, Bononi, Ilaria, Corazza, Monica, Kussini, Jacqueline, Montinari, Elena, Gafà, Roberta, Tognon, Mauro, Martini, Fernanda

Volltext