Publications by authors named "Maria Sframeli"

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Histone deacetylases in Duchenne muscular dystrophy: a role in the mechanism of disease and a target for inhibition.
Mariarita Bertoldi, Emilio Albamonte, Luca Bello, Adele D'amico, Riccardo Masson, Maria Sframeli

Clin Epigenetics· December 2025

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Patients on treatment with risdiplam in Italy: challenges in the interpretation of the real-world data.
Emilio Albamonte, Adrea Lizio, Giorgia Coratti, Lorenzo Maggi, Elena Pegoraro, Maria Sframeli

Neurol Sci· August 2025

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Longitudinal Assessment of 4-Year HFMSE Changes in SMA II and III Patients Treated With Nusinersen.
Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Emilio Albamonte, Maria Sframeli

Eur J Neurol· July 2025

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Cerebrospinal fluid biomarkers of efficacy in patients affected by spinal muscular atrophy type 1 treated with nusinersen.
Maria Sframeli, Francesca Polito, Gianluca Vita, Vincenzo Macaione, Eloisa Gitto

Acta Neurol Belg· June 2025

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Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, Giuliana Capece, Marika Pane, Maria Sframeli

Brain· May 2025

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Long-term natural history in type II and III spinal muscular atrophy: a 4-year international study on the Hammersmith Functional Motor Scale Expanded.
Giorgia Coratti, Francesca Bovis, Maria Carmela Pera, Matthew Civitello, Annemarie Rohwer, Maria Sframeli

Eur J Neurol· December 2024

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Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Emilio Albamonte, Jacqueline Montes, Maria Sframeli

Neuromuscul Disord· November 2024

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Adverse Reactions to the Orphan Drug Cerliponase Alfa in the Treatment of Neurolipofuscinosis Type 2 (CLN2).
Ilaria Ammendolia, Maria Sframeli, Emanuela Esposito, Luigi Cardia, Alberto Noto

Pharmaceuticals (Basel)· November 2024

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Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
Giorgia Coratti, Francesca Bovis, Maria Carmela Pera, Mariacristina Scoto, Jacqueline Montes, Maria Sframeli

Eur J Neurol· August 2024

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Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.
Giorgia Coratti, Matthew Civitello, Annemarie Rohwer, Francesca Salmin, Allan M Glanzman, Maria Sframeli

Neuromuscul Disord· August 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, Maria Sframeli

Neuromuscul Disord· January 2024

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Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.
Marika Pane, Giorgia Coratti, Valeria A Sansone, Sonia Messina, Michela Catteruccia, Maria Sframeli

Eur J Neurol· June 2023

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Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies.
Marika Pane, Beatrice Berti, Anna Capasso, Giorgia Coratti, Antonio Varone, Maria Sframeli

EClinicalMedicine· May 2023

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Spinal muscular atrophy: state of the art and new therapeutic strategies.
Sonia Messina, Maria Sframeli, Lorenzo Maggi, Adele D'Amico, Claudio Bruno

Neurol Sci· December 2022

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Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired.
Michela Taiana, Alessandra Govoni, Sabrina Salani, Nicole Kleinschmidt, Noemi Galli, Maria Sframeli

J Neurol Neurosurg Psychiatry· August 2022

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Body mass index in type 2 spinal muscular atrophy: a longitudinal study.
Gloria Ferrantini, Giorgia Coratti, Roberta Onesimo, Simona Lucibello, Sarah Bompard, Maria Sframeli

Eur J Pediatr· May 2022

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Bone health in Duchenne muscular dystrophy: clinical and biochemical correlates.
Antonino Catalano, Gian Luca Vita, Federica Bellone, Maria Sframeli, Maria Grazia Distefano

J Endocrinol Invest· March 2022

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Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy.
Marika Pane, Giorgia Coratti, Maria Carmela Pera, Valeria A Sansone, Sonia Messina, Maria Sframeli

Ann Clin Transl Neurol· March 2022

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Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes.
Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Mariacristina Scoto, Amy Pasternak, Maria Sframeli

Neuromuscul Disord· January 2022

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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, Maria Sframeli

Muscle Nerve· November 2021

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Nusinersen in pediatric and adult patients with type III spinal muscular atrophy.
Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Maria Sframeli

Ann Clin Transl Neurol· August 2021

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Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.
Giorgia Coratti, Marika Pane, Simona Lucibello, Maria Carmela Pera, Amy Pasternak, Maria Sframeli

Neuromuscul Disord· July 2021

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The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.
Valeria A Sansone, Alice Pirola, Andrea Lizio, Lucia Catherine Greco, Giorgia Coratti, Maria Sframeli

Neuromuscul Disord· May 2021

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Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.
Laura Bianchi, Maria Sframeli, Lorenza Vantaggiato, Gian Luca Vita, Annamaria Ciranni

Int J Mol Sci· April 2021

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Type I SMA "new natural history": long-term data in nusinersen-treated patients.
Marika Pane, Giorgia Coratti, Valeria A Sansone, Sonia Messina, Michela Catteruccia, Maria Sframeli

Ann Clin Transl Neurol· March 2021

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