Publications by authors named "Roberto Massa"

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Landscape Analysis of , , and Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Fernanda Fortunato, Laura Fiocco, Alice Margutti, Marcella Neri, Adele D'Amico, Roberto Massa, Francesca Massaro

Biomolecules· October 2025

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Changes in body composition revealed by bioelectrical impedance analysis reflect strength and motor performance in myotonic dystrophy type 2.
Erica Frezza, Giuseppe Merra, Giulia Greco, Mariangela Goglia, Silvia Seraceno, Roberto Massa

Front Neurol· December 2024

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Integrating D4Z4 methylation analysis into clinical practice: improvement of FSHD molecular diagnosis through distinct thresholds for 4qA/4qA and 4qA/4qB patients.
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Roberto Massa

Clin Epigenetics· October 2024

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Clinical, Histopathologic, and Genetic Features of Patients With Myofibrillary and Distal Myopathies: Experience From the Italian Network.
Sara Bortolani, Marco Savarese, Gaetano Vattemi, Silvia Bonanno, Yuri M Falzone, Roberto Massa

Neurology· August 2024

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Trimetazidine Improves Mitochondrial Dysfunction in SOD1 Cellular Models of Amyotrophic Lateral Sclerosis through Autophagy Activation.
Illari Salvatori, Valentina Nesci, Alida Spalloni, Veronica Marabitti, Maurizio Muzzi, Roberto Massa

Int J Mol Sci· March 2024

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Comprehensive Cardiovascular Management of Myotonic Dystrophy Type 1 Patients: A Report from the Italian Neuro-Cardiology Network.
Vincenzo Russo, Giovanni Antonini, Roberto Massa, Carlo Casali, Alfredo Mauriello

J Cardiovasc Dev Dis· February 2024

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NEFL-Related Charcot-Marie Tooth Disease due to P440L Mutation in Two Italian Families: Expanding the Phenotype and Defining Modulating Factors.
Antonio Petrucci, Ludovico Lispi, Matteo Garibaldi, Erika Frezza, Francesca Moro, Roberto Massa

Eur Neurol· July 2023

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Effect of Expanded Alleles in Myotonic Dystrophy Type 1 Patients Carrying Variant Repeats at 5' and 3' Ends of the CTG Array.
Virginia Veronica Visconti, Elisa Macrì, Maria Rosaria D'Apice, Federica Centofanti, Roberto Massa

Int J Mol Sci· June 2023

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of -Related Myopathies.
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Roberto Massa

Genes (Basel)· January 2023

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A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
Gemma Marinella, Guja Astrea, Bianca Buchignani, Denise Cassandrini, Stefano Doccini, Roberto Massa

Int J Mol Sci· November 2022

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A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
Silvia Romano, Ilaria Bacigalupo, Christian Marcotulli, Ettore Cioffi, Enrico Silvio Bertini, Roberto Massa

Neuroepidemiology· August 2022

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Characterization of full-length expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
Massimiliano Alfano, Luca De Antoni, Federica Centofanti, Virginia Veronica Visconti, Simone Maestri, Roberto Massa

Elife· August 2022

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Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network.
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberto Massa

Neurol Genet· April 2022

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RESPONSE TO LETTER TO THE EDITOR "AUDITORY DYSFUNCTION IN FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE 1: BEYOND THE INNER EAR INVOLVEMENT" BY GHELLER ET AL.
Emanuela Fuccillo, Erica Frezza, Roberto Massa, Stefano Di Girolamo

Otol Neurotol· March 2022

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Assessment of self-reported and objective daytime sleepiness in adult-onset myotonic dystrophy type 1.
Valeria A Sansone, Paola Proserpio, Luca Mauro, Andrea Lizio Biostat, Erica Frezza, Roberto Massa

J Clin Sleep Med· December 2021

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The actigraphic documentation of circadian sleep-wake rhythm dysregulation in myotonic dystrophy type 1.
Claudio Liguori, Matteo Spanetta, Mariana Fernandes, Fabio Placidi, Roberto Massa

Sleep Med· December 2021

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A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated Alleles.
Annalisa Botta, Virginia Veronica Visconti, Luana Fontana, Paola Bisceglia, Mario Bengala, Roberto Massa

Front Genet· June 2021

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ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country.
Marco Luigetti, Valeria Guglielmino, Giovanni Antonini, Carlo Casali, Marco Ceccanti, Roberto Massa

Genes (Basel)· May 2021

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Movement disorders in primary central nervous system lymphoma: two unreported cases and a review of literature.
Piergiorgio Grillo, Francesca DI Giuliano, Roberto Massa, Nicola Biagio Mercuri, Tommaso Schirinzi

Neurol Sci· March 2021

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Cochlear Dysfunction Is a Frequent Feature of Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1).
Erica Frezza, Emanuela Fuccillo, Antonio Petrucci, Giulia Greco, Gabriele Nucera, Roberto Massa

Otol Neurotol· January 2021

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How to capture activities of daily living in myotonic dystrophy type 2?
Federica Montagnese, Emanuele Rastelli, Kristina Stahl, Roberto Massa, Benedikt Schoser

Neuromuscul Disord· October 2020

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Validation of Motor Outcome Measures in Myotonic Dystrophy Type 2.
Federica Montagnese, Emanuele Rastelli, Nina Khizanishvili, Roberto Massa, Kristina Stahl

Front Neurol· April 2020

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Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification.
Elisa Giorgio, Emanuela Garelli, Adriana Carando, Stefania Bellora, Elisa Rubino, Roberto Massa

J Hum Genet· November 2019

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Reply to the letter entitled "Predictors of respiratory impairment in patients with myotonic dystrophy type 1".
Salvatore Rossi, Giacomo Della Marca, Martina Ricci, Alessia Perna, Tommaso F Nicoletti, Roberto Massa

J Neurol Sci· August 2019

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Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study.
Salvatore Rossi, Giacomo Della Marca, Martina Ricci, Alessia Perna, Tommaso F Nicoletti, Roberto Massa

J Neurol Sci· April 2019

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