Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Tiziana E. Mongini"'
Autor:
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Massimiliano Filosto, Daniele Galatolo, Salvatore Gallone, Fabio Giannini, Diego Lopergolo, Maria Antonietta Maioli, Francesca Magri, Alessandro Malandrini, Paola Mandich, Francesco Mari, Roberto Massa, Sabrina Mata, Federico Melani, Maurizio Moggio, Tiziana E. Mongini, Rosa Pasquariello, Elena Pegoraro, Federica Ricci, Giulia Ricci, Carmelo Rodolico, Anna Rubegni, Gabriele Siciliano, Martina Sperti, Chiara Ticci, Paola Tonin, Filippo M. Santorelli, Roberta Battini
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 23, p 14567 (2022)
Objective: To define the prevalence of variants in collagen VI genes through a next-generation sequencing (NGS) approach in undiagnosed patients with suspected neuromuscular disease and to propose a diagnostic flowchart to assess the real pathogenici
Externí odkaz:
https://doaj.org/article/bf9712b347b74909bee43fa5ac8dc555
Autor:
Federica S. Ricci, Rossella D’Alessandro, Martina Vacchetti, Anna Salvalaggio, Alessandra Somà, Giorgia Daffunchio, Marco Spada, Renato Turra, Marisa Bobbio, Alessandro Ciuti, Chiara Davico, Benedetto Vitiello, Tiziana E. Mongini
Publikováno v:
Children, Vol 9, Iss 7, p 1063 (2022)
Innovative targeted treatments for neuromuscular disorders (NMDs) can dramatically improve the course of illness. Diagnostic delay, however, is a major impediment. Here, we present a pilot project aimed at assessing the feasibility of a screening pro
Externí odkaz:
https://doaj.org/article/42f4672ab38f4f8e90f21f42870f3f34
Autor:
Chiara Brusa, Giulio Gadaleta, Rossella D’Alessandro, Guido Urbano, Martina Vacchetti, Chiara Davico, Benedetto Vitiello, Federica S. Ricci, Tiziana E. Mongini
Publikováno v:
Brain Sciences, Vol 12, Iss 2, p 176 (2022)
Mental disorders are observed in neuromuscular diseases, especially now that patients are living longer. Psychiatric symptoms may be severe and psychopharmacological treatments may be required. However, very little is known about pharmacotherapy in t
Externí odkaz:
https://doaj.org/article/761e82a98812470da9901955fe93034d
Autor:
Daniela Parisi, Olimpia Musumeci, Stefania Mondello, Teresa Brizzi, Rosaria Oteri, Alba Migliorato, Annamaria Ciranni, Tiziana E. Mongini, Carmelo Rodolico, Giuseppe Vita, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Background: Primary aim was to investigate the diagnostic value of PAS-positive vacuolated lymphocytes on blood smear in Late Onset Pompe Disease (LOPD) patients and, secondly, to evaluate its potential utility in monitoring treatment effects.Methods
Externí odkaz:
https://doaj.org/article/7e32698156d247759f171d3ef348d1bd
Autor:
Federica S. Ricci, Martina Vacchetti, Chiara Brusa, Rossella D'Alessandro, Paola La Rosa, Gianluca Martone, Chiara Davico, Benedetto Vitiello, Tiziana E. Mongini
Publikováno v:
European Journal of Paediatric Neurology. 39:59-64
An observational longitudinal study to evaluate the feasibility of assessing cognitive, neuropsychological and emotional-behavioural functioning in children with myotonic dystrophy type 1 (DM1), and to estimate prospectively changes in functioning ov
Autor:
Imke A.M. Ditters, Hidde H. Huidekoper, Michelle E. Kruijshaar, Dimitris Rizopoulos, Andreas Hahn, Tiziana E. Mongini, François Labarthe, Marine Tardieu, Brigitte Chabrol, Anaïs Brassier, Rossella Parini, Giancarlo Parenti, Nadine A.M.E. van der Beek, Ans T. van der Ploeg, Hannerieke van den Hout
Publikováno v:
Molecular Genetics and Metabolism. 135:S39
Autor:
Giovanni, Peretto, Chiara, Di Resta, Jacopo, Perversi, Cinzia, Forleo, Lorenzo, Maggi, Luisa, Politano, Andrea, Barison, Stefano C, Previtali, Nicola, Carboni, Francesca, Brun, Elena, Pegoraro, Adele, D'Amico, Carmelo, Rodolico, Francesca, Magri, Rosa C, Manzi, Alberto, Palladino, Franco, Isola, Lorenzo, Gigli, Tiziana E, Mongini, Claudio, Semplicini, Chiara, Calore, Giulia, Ricci, Giacomo P, Comi, Lucia, Ruggiero, Enrico, Bertini, Paolo, Bonomo, Gerardo, Nigro, Nicoletta, Resta, Michele, Emdin, Stefano, Favale, Gabriele, Siciliano, Lucio, Santoro, Gianfranco, Sinagra, Giuseppe, Limongelli, Alessandro, Ambrosi, Maurizio, Ferrari, Pier G, Golzio, Paolo Della, Bella, Sara, Benedetti, Simone, Sala
Publikováno v:
Annals of Internal Medicine. 171:458
Background Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood. Objective To learn more about the natural history of LMNA-rela