Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Riccardo, Masson"'
Autor:
Claudia Dosi, Riccardo Masson
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
ObjectiveTo review the clinical characteristics and effect of treatment in patients with spinal muscular atrophy (SMA) and three copies of the SMN2 gene.MethodsWe conducted a literature search in October 2022 to identify English-language clinical res
Externí odkaz:
https://doaj.org/article/fe6370089a3d4fb7af722e7479759cbb
Autor:
Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco, Basil T. Darras, the ANCHOVY Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIRE
Externí odkaz:
https://doaj.org/article/7dcf9fd5800e4a74826a8e62d503f985
Autor:
Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Adele D’Amico, Sonia Messina, Riccardo Masson, Valeria Ada Sansone, Maria Alice Donati, Caterina Agosto, Claudio Bruno, Federica Ricci, Antonella Pini, Delio Gagliardi, Massimiliano Filosto, Stefania Corti, Daniela Leone, Concetta Palermo, Roberta Onesimo, Roberto De Sanctis, Martina Ricci, Ilaria Bitetti, Maria Sframeli, Claudia Dosi, Emilio Albamonte, Chiara Ticci, Noemi Brolatti, Enrico Bertini, Richard Finkel, Eugenio Mercuri, Maria Carmela Pera, Chiara Bravetti, Marco Piastra, Orazio Genovese, Gianpaolo Cicala, Nicola Forcina, Sara Carnicella, Giulia Stanca, Michele Sacchini, Michela Catteruccia, Michele Tosi, Renato Cutrera, Claudio Chierchi, Maria Beatrice Chiarini, Francesca Salmin, Marina Pedemonte, Alessandra Govoni, Irene Mizzoni, Simone Morando, Riccardo Zanin, Enrica Rolle, Eleonora Salomon, Melania Giannotta, Gaia Scarpini, Antonio Toscano, Eloisa Gitto, Roberto Materia, Rossella D’Alessandro
Publikováno v:
EClinicalMedicine, Vol 59, Iss , Pp 101997- (2023)
Summary: Background: Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular Atrophy infants under 7 months and
Externí odkaz:
https://doaj.org/article/40165d9821824625a9a6285a88f2fdbc
Autor:
Silvia Bonanno, Paola Cavalcante, Erika Salvi, Eleonora Giagnorio, Claudia Malacarne, Marco Cattaneo, Francesca Andreetta, Anna Venerando, Viviana Pensato, Cinzia Gellera, Riccardo Zanin, Maria Teresa Arnoldi, Claudia Dosi, Renato Mantegazza, Riccardo Masson, Lorenzo Maggi, Stefania Marcuzzo
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 16 (2022)
Background and objectivesMultisystem involvement in spinal muscular atrophy (SMA) is gaining prominence since different therapeutic options are emerging, making the way for new SMA phenotypes and consequent challenges in clinical care. Defective immu
Externí odkaz:
https://doaj.org/article/2c3d2def91f54c2e9bdb62f8366a15f0
Autor:
Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD Group
Publikováno v:
Children, Vol 10, Iss 4, p 746 (2023)
Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this s
Externí odkaz:
https://doaj.org/article/267728c5a1714bfa8d43d5e99fddd56a
Autor:
Luca Bello, Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A. Sansone, Stefano Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, CINRG‐DNHS Investigators, Elena Pegoraro
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 5, Pp 786-798 (2020)
Abstract Objective Respiratory insufficiency is a major complication of Duchenne muscular dystrophy (DMD). Its progression shows considerable interindividual variability, which has been less thoroughly characterized and understood than in skeletal mu
Externí odkaz:
https://doaj.org/article/4d295546ee074e24abccab17a1bf8041
Autor:
Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d'Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C Previtali, Grazia D'angelo, Francesca Magri, Giacomo P Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, italian DMD study group
Publikováno v:
PLoS ONE, Vol 17, Iss 7, p e0271681 (2022)
The aim of this study was to establish the possible effect of age, corticosteroid treatment and brain dystrophin involvement on motor function in young boys affected by Duchenne Muscular Dystrophy who were assessed using the North Star Ambulatory Ass
Externí odkaz:
https://doaj.org/article/8e2cffe834b14cb78ac44c0e1498df76
Autor:
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 1, Pp n/a-n/a (2021)
Abstract Background PURA syndrome is rare autosomal dominant condition characterized by moderate to severe neurodevelopmental delay with absence of speech in nearly all patients and lack of independent ambulation in many. Early‐onset problems inclu
Externí odkaz:
https://doaj.org/article/4d2319fa1f744495be7c55a2dd6f38e4
Autor:
Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Background: Four main clinical phenotypes have been traditionally described in patients mutated in SCN4A, including sodium-channel myotonia (SCM), paramyotonia congenita (PMC), Hypokaliemic type II (HypoPP2), and Hyperkaliemic/Normokaliemic periodic
Externí odkaz:
https://doaj.org/article/1a3f02ad30c0483c9785aa5d4fd702c8
Autor:
Group, Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D’Amico, Elena Pegoraro, Luca Bello, Valeria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria D’Angelo, Claudio Bruno, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Bertini, Luisa Politano, Eugenio Mercuri, Italian DMD
Publikováno v:
Children; Volume 10; Issue 4; Pages: 746
Introduction: The Performance of Upper Limb version 2.0 (PUL 2.0) is increasingly used in Duchenne Muscular Dystrophy (DMD) to study longitudinal functional changes of motor upper limb function in ambulant and non-ambulant patients. The aim of this s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::fe775c3f2f737ef59f4abbaefc9dc271