Zobrazeno 1 - 10
of 640
pro vyhledávání: '"Claudio, Bruno"'
Autor:
Claudio Bruno Silva de Oliveira, Joelma Maria de Araújo Andrade, Shahina Akter, Maria Karolaynne da Silva, Umberto Laino Fulco, Jonas Ivan Nobre Oliveira
Publikováno v:
Revista da Sociedade Brasileira de Medicina Tropical, Vol 57 (2024)
Externí odkaz:
https://doaj.org/article/54307fa5a7f54fb397ff4690525f2e89
Autor:
Martina Garofalo, Giuseppe De Simone, Zoraide Motta, Tommaso Nuzzo, Elisa De Grandis, Claudio Bruno, Silvia Boeri, Maria Pia Riccio, Lucio Pastore, Carmela Bravaccio, Felice Iasevoli, Francesco Salvatore, Loredano Pollegioni, Francesco Errico, Andrea de Bartolomeis, Alessandro Usiello
Publikováno v:
Frontiers in Psychiatry, Vol 15 (2024)
IntroductionSchizophrenia (SCZ) and autism spectrum disorder (ASD) are neurodevelopmental diseases characterized by different psychopathological manifestations and divergent clinical trajectories. Various alterations at glutamatergic synapses have be
Externí odkaz:
https://doaj.org/article/f15656e6e3e6456d83b5d5e3d88c758a
Autor:
Nastasia Cardone, Valentina Taglietti, Serena Baratto, Kaouthar Kefi, Baptiste Periou, Ciryl Gitiaux, Christine Barnerias, Peggy Lafuste, France Leturcq Pharm, Juliette Nectoux Pharm, Chiara Panicucci, Isabelle Desguerre, Claudio Bruno, François-Jerome Authier, Chiara Fiorillo, Frederic Relaix, Edoardo Malfatti
Publikováno v:
Acta Neuropathologica Communications, Vol 11, Iss 1, Pp 1-11 (2023)
Abstract Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disease, caused by mutations in the DMD gene encoding Dystrophin and affecting 1:5000 boys worldwide. Lack of Dystrophin leads to progressive muscle wasting and degeneratio
Externí odkaz:
https://doaj.org/article/b6d306702c484b0da14b8cd7bffee00a
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
Autor:
Gabriel Christian de Farias Morais, Umberto Laino Fulco, Edilson Dantas da Silva, Claudio Bruno Silva de Oliveira, Jonas Ivan Nobre Oliveira
Publikováno v:
International Journal of Translational Medicine, Vol 3, Iss 2, Pp 183-186 (2023)
Recently, some drugs were approved to control Monkeypox (MPX), among them tecovirimat. This was recently approved by regulatory agencies around the world, the paper of Zovi et al entitled Pharmacological Agents with Antiviral Activity against Monkeyp
Externí odkaz:
https://doaj.org/article/05f26ce981fd4d338440c4a7d33b30e8
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)
Abstract Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokine
Externí odkaz:
https://doaj.org/article/cf9aa173befd4087b4e4bc7cce3e9e84
Autor:
Tommaso Nuzzo, Rosita Russo, Francesco Errico, Adele D’Amico, Awet G. Tewelde, Mariangela Valletta, Amber Hassan, Michele Tosi, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Angela Chambery, Livio Pellizzoni, Alessandro Usiello
Publikováno v:
Communications Medicine, Vol 3, Iss 1, Pp 1-9 (2023)
Nuzzo, Russo, Errico, D’Amico et al. investigate neuroinflammation in forty-eight pediatric spinal muscular atrophy patients before and after Nusinersen treatment. They find signatures of neuroinflammation that are specifically associated with seve
Externí odkaz:
https://doaj.org/article/265198727fe14af692a98f766aeb74cb
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 5, Pp 1799-1801 (2023)
Externí odkaz:
https://doaj.org/article/258bc786e54b4365b79dbe9dd14b5d86
Autor:
Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno
Publikováno v:
Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)
Abstract Background Sengers syndrome is characterized by congenital cataract, hypertrophic cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in AGK gene. Clinical course ranges from a severe fatal neonatal form, to
Externí odkaz:
https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffe
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