Search Results - Eugenio Mercuri

  • Showing 1 - 6 results of 6
Refine Results
  1. 1
    Construct Validity and Internal Consistency of the Italian Version of the PedsQL<sup>TM</sup> 4.0 Generic Core Scale and PedsQL<sup>TM</sup> 3.0 Cerebral Palsy Module

    Construct Validity and Internal Consistency of the Italian Version of the PedsQL<sup>TM</sup> 4.0 Generic Core Scale and PedsQL<sup>TM</sup> 3.0 Cerebral Palsy Module by Ilaria Pedrinelli, Sofia Biagi, Domenico Marco Romeo, Elisa Musto, Valeria Fagiani, Martina Lanza, Erika Guastafierro, Alice Colombo, Andrea Giordano, Cristina Montomoli, Cristiana Rezzani, Tiziana Casalino, Eugenio Mercuri, Daria Riva, Matilde Leonardi, Giovanni Baranello, Emanuela Pagliano

    Published 2025-06-01

    Background: Health-related quality of life (HRQoL) has emerged as a meaningful outcome measure in clinical trials and healthcare interventions in children with cerebral palsy (CwCP). We assessed the construct validity and internal consistency of the Italian version of the Paediatric QoL inventory (P...

    Full description

    Get full text
    Article

    Save to List
    Saved in:
  2. 2
    Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

    Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study by Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri

    Published 2025-07-01

    ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in tr...

    Full description

    Get full text
    Article

    Save to List
    Saved in:
  3. 3
    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy

    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy by Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y. Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J. Ward, Erik H. Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, The NorthStar Clinical Network, Craig McDonald

    Published 2025-01-01 Get full text
    Article

    Save to List
    Saved in:
  4. 4
    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy.

    Predicting trajectories of the north star ambulatory assessment total score in Duchenne muscular dystrophy. by Francesco Muntoni, James Signorovitch, Nathalie Goemans, Adnan Y Manzur, Nicolae Done, Gautam Sajeev, Jiayang Li, Hanane Akbarnejad, Aarushi Sharma, Susan J Ward, Erik H Niks, Laurant Servais, Eugenio Mercuri, Michela Guglieri, Volker Straub, Imelda de Groot, Deborah Ridout, PRO-DMD-01 study investigators, Association Française contre les Myopathies, NorthStar Clinical Network, Craig McDonald

    Published 2025-01-01

    The North Star Ambulatory Assessment (NSAA) is a widely used functional endpoint in drug development for ambulatory patients with Duchenne muscular dystrophy (DMD). Accurately predicting NSAA total score trajectories is important for designing randomized trials for novel therapies in DMD and for con...

    Full description

    Get full text
    Article

    Save to List
    Saved in:
  5. 5
    Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy

    Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy by Luca Bello, Pietro Riguzzi, Emilio Albamonte, Guja Astrea, Roberta Battini, Andrea Barp, Angela L. Berardinelli, Enrico S. Bertini, Noemi Brolatti, Claudio Bruno, Stefania Corti, Adele D’Amico, Maria Grazia D’Angelo, Gianfranco Dallavalle, Rocco Liguori, Lorenzo Maggi, Francesca Magri, Michelangelo Mancuso, Riccardo Masson, Eugenio Mercuri, Carlo Minetti, Sonia Messina, Tiziana Mongini, Olimpia Musumeci, Vincenzo Nigro, Marika Pane, Chiara Panicucci, Marina Pedemonte, Antonella Pini, Luisa Politano, Stefano Previtali, Federica Ricci, Giulia Ricci, Lucia Ruggiero, Valeria Sansone, Gabriele Siciliano, Antonio Trabacca, Federica Trucco, Daniele Velardo, Elena Pegoraro, Giacomo P. Comi

    Published 2025-05-01

    Abstract The Italian Duchenne muscular dystrophy expert clinicians, gathered in the Italian Association of Myology (AIM), intend to express a position against the suspension of the Marketing Authorization of ataluren (Translarna®) for the treatment of nonsense mutation Duchenne muscular dystrophy. T...

    Full description

    Get full text
    Article

    Save to List
    Saved in:
  6. 6
    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI

    Myo‐Guide: A Machine Learning‐Based Web Application for Neuromuscular Disease Diagnosis With MRI by Jose Verdu‐Diaz, Carla Bolano‐Díaz, Alejandro Gonzalez‐Chamorro, Sam Fitzsimmons, Jodi Warman‐Chardon, Goknur Selen Kocak, Debora Mucida‐Alvim, Ian C. Smith, John Vissing, Nanna Scharff Poulsen, Sushan Luo, Cristina Domínguez‐González, Laura Bermejo‐Guerrero, David Gomez‐Andres, Javier Sotoca, Anna Pichiecchio, Silvia Nicolosi, Mauro Monforte, Claudia Brogna, Eugenio Mercuri, Jorge Alfredo Bevilacqua, Jorge Díaz‐Jara, Benjamín Pizarro‐Galleguillos, Peter Krkoska, Jorge Alonso‐Pérez, Montse Olivé, Erik H. Niks, Hermien E. Kan, James Lilleker, Mark Roberts, Bianca Buchignani, Jinhong Shin, Florence Esselin, Emmanuelle Le Bars, Anne Marie Childs, Edoardo Malfatti, Anna Sarkozy, Luke Perry, Sniya Sudhakar, Edmar Zanoteli, Filipe Tupinamba Di Pace, Emma Matthews, Shahram Attarian, David Bendahan, Matteo Garibaldi, Laura Fionda, Alicia Alonso‐Jiménez, Robert Carlier, Ali Asghar Okhovat, Shahriar Nafissi, Atchayaram Nalini, Seena Vengalil, Kieren Hollingsworth, Chiara Marini‐Bettolo, Volker Straub, Giorgio Tasca, Jaume Bacardit, Jordi Díaz‐Manera, the Myo‐Guide Consortium

    Published 2025-06-01

    ABSTRACT Background Neuromuscular diseases (NMDs) are rare disorders characterized by progressive muscle fibre loss, leading to replacement by fibrotic and fatty tissue, muscle weakness and disability. Early diagnosis is critical for therapeutic decisions, care planning and genetic counselling. Musc...

    Full description

    Get full text
    Article

    Save to List
    Saved in:

Search Tools: