Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Giuseppe Vita"'
Autor:
Lorenza Magliano, Laura Obici, Claudia Sforzini, Anna Mazzeo, Massimo Russo, Francesco Cappelli, Silvia Fenu, Marco Luigetti, Matteo Tagliapietra, Chiara Gemelli, Luca Leonardi, Stefano Tozza, Luca Guglielmo Pradotto, Giulia Citarelli, Alessandro Mauro, Fiore Manganelli, Giovanni Antonini, Marina Grandis, Gian Maria Fabrizi, Mario Sabatelli, Davide Pareyson, Federico Perfetto, Giampaolo Merlini, Giuseppe Vita, ATTRv Collaborators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Abstract Background Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient’s fun
Externí odkaz:
https://doaj.org/article/ec614e801b3a4556b8a4dca986e3adab
Autor:
Luca Gentile, Massimo Russo, Carmelo Rodolico, Ilenia Arimatea, Giuseppe Vita, Antonio Toscano, Anna Mazzeo
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Abstract Multifocal motor neuropathy (MMN) is a rare disease with a prevalence of less than 1 per 100,000 people. Intravenous immunoglobulin (IVIG) therapy, performed for a long-term period, has been demonstrated able to improve the clinical picture
Externí odkaz:
https://doaj.org/article/949207f73311409782fe52dc677986fd
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Muscle-specific tyrosine kinase (MuSK) myasthenia gravis (MG) is a rare, frequently more severe, subtype of MG with different pathogenesis, and peculiar clinical features. The prevalence varies among countries and ethnic groups, affecting 5–8% of a
Externí odkaz:
https://doaj.org/article/45ea750c42ee4c12b01382e40e000b2a
Autor:
Gian Luca Vita, M’Hammed Aguennouz, Francesca Polito, Rosaria Oteri, Massimo Russo, Luca Gentile, Cristina Barbagallo, Marco Ragusa, Carmelo Rodolico, Rosa Maria Di Giorgio, Antonio Toscano, Giuseppe Vita, Anna Mazzeo
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Transthyretin variant amyloidosis (ATTRv) is a rare autosomal dominant disease characterized by the accumulation of amyloid in many organs, mostly causing a sensory-motor neuropathy, cardiomyopathy, and dysautonomia. The aim of the study was to repor
Externí odkaz:
https://doaj.org/article/6bd4bd68560741d7b5d2c0532882ea66
Autor:
Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian co
Externí odkaz:
https://doaj.org/article/35ed134ecc004b5db2961704c8d9c79a
Autor:
Anna Ambrosini, Daniela Calabrese, Francesco Maria Avato, Felice Catania, Guido Cavaletti, Maria Carmela Pera, Antonio Toscano, Giuseppe Vita, Lucia Monaco, Davide Pareyson
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-16 (2018)
Abstract Background The worldwide landscape of patient registries in the neuromuscular disease (NMD) field has significantly changed in the last 10 years, with the international TREAT-NMD network acting as strong driver. At the same time, the Europea
Externí odkaz:
https://doaj.org/article/ee2aa3eab9cb4a22a8696bc82351a6db
Autor:
Rebecca A. Crow, Kimberly A. Hart, Michael P. McDermott, Rabi Tawil, William B. Martens, Barbara E. Herr, Elaine McColl, Jennifer Wilkinson, Janbernd Kirschner, Wendy M. King, Michele Eagle, Mary W. Brown, Deborah Hirtz, Hanns Lochmuller, Volker Straub, Emma Ciafaloni, Perry B. Shieh, Stefan Spinty, Anne-Marie Childs, Adnan Y. Manzur, Lucia Morandi, Russell J. Butterfield, Iain Horrocks, Helen Roper, Kevin M. Flanigan, Nancy L. Kuntz, Jean K. Mah, Leslie Morrison, Basil T. Darras, Maja von der Hagen, Ulrike Schara, Ekkehard Wilichowski, Tiziana Mongini, Craig M. McDonald, Giuseppe Vita, Richard J. Barohn, Richard S. Finkel, Matthew Wicklund, Hugh J. McMillan, Imelda Hughes, Elena Pegoraro, W. Bryan Burnette, James F. Howard, Mathula Thangarajh, Craig Campbell, Robert C. Griggs, Kate Bushby, Michela Guglieri
Publikováno v:
Trials, Vol 19, Iss 1, Pp 1-9 (2018)
Abstract Background Trials in rare diseases have many challenges, among which are the need to set up multiple sites in different countries to achieve recruitment targets and the divergent landscape of clinical trial regulations in those countries. Ov
Externí odkaz:
https://doaj.org/article/59fc2ba5f36543fab1efe37a189c7b3f
Autor:
Luca Gentile, Massimo Russo, Marco Luigetti, Giulia Bisogni, Andrea Di Paolantonio, Angela Romano, Valeria Guglielmino, Ilenia Arimatea, Mario Sabatelli, Antonio Toscano, Giuseppe Vita, Anna Mazzeo
Publikováno v:
Brain Sciences, Vol 11, Iss 4, p 515 (2021)
Hereditary amyloidosis associated with mutations in the transthyretin gene (hATTR) is a progressive devastating disease, with a fatal outcome occurring within 10years after onset. In recent years, TTR gene silencing therapy appeared as a promising th
Externí odkaz:
https://doaj.org/article/67501ac7986a41c0a8a6c4a97de19b73
Autor:
Laura Bianchi, Maria Sframeli, Lorenza Vantaggiato, Gian Luca Vita, Annamaria Ciranni, Francesca Polito, Rosaria Oteri, Eloisa Gitto, Fabrizio Di Giuseppe, Stefania Angelucci, Antonio Versaci, Sonia Messina, Giuseppe Vita, Luca Bini, M’hammed Aguennouz
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 9, p 4329 (2021)
Spinal muscular atrophy (SMA) type 1 is a severe infantile autosomal-recessive neuromuscular disorder caused by a survival motor neuron 1 gene (SMN1) mutation and characterized by progressive muscle weakness. Without supportive care, SMA type 1 is ra
Externí odkaz:
https://doaj.org/article/b94b06eb138b4972bc2775772eeb26e3
Autor:
Massimo Russo, Luca Gentile, Vincenzo Di Stefano, Gianluca Di Bella, Fabio Minutoli, Antonio Toscano, Filippo Brighina, Giuseppe Vita, Anna Mazzeo
Publikováno v:
Brain Sciences, Vol 11, Iss 5, p 545 (2021)
Background: Over the past decade, three new drugs have been approved for the treatment of hereditary amyloid transthyretin (ATTRv) polyneuropathy. The aim of this work was to analyze whether current therapies prolong survival for patients affected by
Externí odkaz:
https://doaj.org/article/0e16d349612648c3b6a0eed96fe56b93