Publications by authors named "Elena Mazzone"

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A plain language summary of the SAPPHIRE clinical trial of apitegromab in children and young adults with spinal muscular atrophy.
Thomas O Crawford, Laurent Servais, Eugenio Mercuri, Heike Kölbel, Nancy Kuntz, Elena Stacy Mazzone

Expert Rev Neurother· November 2025

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Safety and efficacy of apitegromab in nonambulatory type 2 or type 3 spinal muscular atrophy (SAPPHIRE): a phase 3, double-blind, randomised, placebo-controlled trial.
Thomas O Crawford, Laurent Servais, Eugenio Mercuri, Heike Kölbel, Nancy Kuntz, Elena Stacy Mazzone

Lancet Neurol· September 2025

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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study.
Thomas O Crawford, John W Day, Darryl C De Vivo, Jena M Krueger, Eugenio Mercuri, Elena Stacy Mazzone

Front Neurol· July 2024

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Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
Amy Wolfe, Georgia Stimpson, Danielle Ramsey, Giorgia Coratti, Sally Dunaway Young, Elena Mazzone

J Neuromuscul Dis· May 2024

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Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study.
Giorgia Coratti, Marika Pane, Claudia Brogna, Adele D'Amico, Elena Pegoraro, Elena Stacy Mazzone

Neuromuscul Disord· January 2024

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Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0.
Gianpaolo Cicala, Marika Pane, Giorgia Coratti, Claudia Brogna, Lavinia Fanelli, Elena Mazzone

Neuromuscul Disord· September 2023

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Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment.
Eugenio Mercuri, Giovanni Baranello, Odile Boespflug-Tanguy, Liesbeth De Waele, Nathalie Goemans, Elena S Mazzone

Eur J Neurol· July 2023

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Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?
Marika Pane, Giorgia Coratti, Claudia Brogna, Francesca Bovis, Adele D'Amico, Elena Stacy Mazzone

J Neuromuscul Dis· July 2023

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Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).
Maryam Oskoui, John W Day, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento

J Neurol· May 2023

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Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA).
Maryam Oskoui, John W Day, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento

J Neurol· May 2023

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Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.
Vandana Ayyar Gupta, Jacqueline M Pitchforth, Joana Domingos, Deborah Ridout, Mario Iodice, Elena S Mazzone

PLoS One· April 2023

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Emergencies cards for neuromuscular disorders 1 Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Fabrizio Racca, Valeria A Sansone, Federica Ricci, Massimiliano Filosto, Stefania Pedroni, Elena Mazzone

Acta Myol· February 2023

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2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.
Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Elena Stacy Mazzone

J Clin Med· February 2023

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Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Eugenio Mercuri, Nicolas Deconinck, Elena S Mazzone, Andres Nascimento, Maryam Oskoui

Lancet Neurol· January 2022

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North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
Giorgia Coratti, Marika Pane, Claudia Brogna, Valeria Ricotti, Sonia Messina, Elena Mazzone

PLoS One· November 2021

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Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Amy Pasternak, Mariacristina Scoto, Elena Stacy Mazzone

Muscle Nerve· November 2021

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Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases.
Tina Duong, Kristin J Krosschell, Meredith K James, Leslie Nelson, Lindsay N Alfano, Elena Mazzone

Front Genet· November 2021

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Management of motor rehabilitation in individuals with muscular dystrophies. 1 Consensus Conference report from UILDM - Italian Muscular Dystrophy Association (Rome, January 25-26, 2019).
Maria Elena Lombardo, Elena Carraro, Cristina Sancricca, Michela Armando, Michela Catteruccia, Elena Mazzone

Acta Myol· June 2021

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Clinical Variability in Spinal Muscular Atrophy Type III.
Giorgia Coratti, Sonia Messina, Simona Lucibello, Maria Carmela Pera, Jacqueline Montes, Elena Stacy Mazzone

Ann Neurol· December 2020

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Performance of Upper Limb module for Duchenne muscular dystrophy.
Anna G Mayhew, Giorgia Coratti, Elena Stacy Mazzone, Katrijn Klingels, Meredith James

Dev Med Child Neurol· May 2020

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Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Elena Mazzone

PLoS One· February 2020

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Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.
Jacqueline Montes, Sally Dunaway Young, Elena S Mazzone, Amy Pasternak, Allan M Glanzman

Muscle Nerve· October 2019

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Long-term progression in type II spinal muscular atrophy: A retrospective observational study.
Eugenio Mercuri, Simona Lucibello, Maria Carmela Pera, Sara Carnicella, Giorgia Coratti, Elena Mazzone

Neurology· September 2019

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Correction: Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.
Claudia Brogna, Giorgia Coratt, Marika Pane, Valeria Ricotti, Sonia Messina, Elena Mazzone

PLoS One· July 2019

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The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018.
Hanns Lochmüller, Anna Ambrosini, Baziel van Engelen, Mats Hansson, Aad Tibben, Elena Mazzone

J Neuromuscul Dis· January 2019

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