Zobrazeno 1 - 10
of 153
pro vyhledávání: '"Zanobio A"'
Autor:
Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro
Publikováno v:
In Genetics in Medicine November 2024 26(11)
Autor:
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, th
Externí odkaz:
https://doaj.org/article/a63c0e0266e34366b30660e184a94201
Akademický článek
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Autor:
Rosenhahn, Erik, O’Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E.I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M.H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E.X., Maroofian, Reza, Platzer, Konrad
Publikováno v:
In The American Journal of Human Genetics 4 August 2022 109(8):1421-1435
Autor:
Peduto, Cristina, Cappuccio, Gerarda, Zeuli, Roberta, Zanobio, Mariateresa, Torella, Annalaura, Alkuraya, Fowzan S., Joss, Shelagh, Daolio, Cecilia, Spinelli, Alessandro Mauro, Zampieri, Stefania, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Publikováno v:
American Journal of Medical Genetics. Part A; Nov2024, Vol. 194 Issue 11, p1-11, 11p
Akademický článek
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Autor:
Santoro, Claudia, Riccio, Simona, Palladino, Federica, Aliberti, Ferdinando, Carotenuto, Marco, Zanobio, Mariateresa, Peduto, Cristina, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Publikováno v:
In European Journal of Medical Genetics May 2021 64(5)
Autor:
Annalaura Torella, Alberto Budillon, Mariateresa Zanobio, Francesca Del Vecchio Blanco, Esther Picillo, Luisa Politano, Vincenzo Nigro, Giulio Piluso
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 11, p 9241 (2023)
Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be dis
Externí odkaz:
https://doaj.org/article/ef414b81912d4a9896e590e4be507878
Autor:
Peduto, Cristina1 (AUTHOR), Zanobio, Mariateresa1 (AUTHOR), Nigro, Vincenzo1,2 (AUTHOR), Perrotta, Silverio3 (AUTHOR), Piluso, Giulio1 (AUTHOR) giulio.piluso@unicampania.it, Santoro, Claudia3,4 (AUTHOR) giulio.piluso@unicampania.it
Publikováno v:
Cancers. Feb2023, Vol. 15 Issue 4, p1217. 21p.
Autor:
Claudia Santoro, Giuseppe Mirone, Mariateresa Zanobio, Giusy Ranucci, Alessandra D’Amico, Domenico Cicala, Maria Iascone, Pia Bernardo, Vincenzo Piccolo, Andrea Ronchi, Giuseppe Limongelli, Marco Carotenuto, Vincenzo Nigro, Giuseppe Cinalli, Giulio Piluso
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 16, p 8952 (2022)
Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in children. Incidence is higher in East Asia, where the heterozygous p.Arg4810Lys variant in RNF213 (Mysterin) represents the major susceptibility factor. Rare variant
Externí odkaz:
https://doaj.org/article/47d8e883eb814e42962b142105f9134c