Publications by authors named "Claudio Bruno"

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Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study.
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl

Neurol Ther· April 2023

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Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies.
Laura Costa-Comellas, Mauro Monforte, Angel Sanchez-Montañez, Penélope Romero-Duque, Elena Pegoraro, Claudio Bruno

Ann Clin Transl Neurol· December 2025

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Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons.
Craig M McDonald, Michela Guglieri, Dragana Vučinić, Gyula Acsadi, John F Brandsema, Claudio Bruno

Ann Clin Transl Neurol· November 2025

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The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben, Rebecca Ganetzky, René G Feichtinger, Claudio Bruno

Brain· November 2025

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Hand X-ray metrics for assessing bone health and fracture risk in Duchenne muscular dystrophy: a cross-sectional study.
Chiara Panicucci, Agnese Repetto, Alessia Angelelli, Francesca Bovis, Sara Casalini, Claudio Bruno

Eur J Pediatr· November 2025

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Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.
Marco Spada, Serena Gasperini, Massimiliano Filosto, Guja Astrea, Beatrice Bracci, Claudio Bruno

Orphanet J Rare Dis· November 2025

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Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy.
Amber Hassan, Raffaella di Vito, Anna Caretto, Tommaso Nuzzo, Adele D'Amico, Claudio Bruno

Neurobiol Dis· October 2025

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Genetic Deletion of the Purinergic Receptor Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.
Cecilia Astigiano, Elisa Principi, Sara Pintus, Andrea Benzi, Serena Baratto, Claudio Bruno

ACS Pharmacol Transl Sci· October 2025

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Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies.
Linda Ottoboni, Claudio Bruno, Stefania Corti

Brain· October 2025

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Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease.
Adriana Amaro, Francesco Reggiani, Chiara Panicucci, Mariangela Petito, Serena Baratto, Claudio Bruno

Brain· October 2025

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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, Claudio Bruno

Biomolecules· October 2025

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Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual Disability.
Chiara Panicucci, Sara Casalini, Giovanni Fiorito, Alessandra Biolcati Rinaldi, Valentina Biagioli, Claudio Bruno

Mol Neurobiol· September 2025

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Increase in benign acute childhood myositis in the post-COVID era: a retrospective study from a tertiary pediatric center.
Giacomo Brisca, Marcello Mariani, Tommaso Bellini, Carla Cervello, Margherita Di Jorgi, Claudio Bruno

Eur J Pediatr· September 2025

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Central Neurophysiological Alterations in Dystrophic mdx Mice Correlate With Reduced Hippocampal Levels of the Endogenous NMDA Receptor Ligand D-Aspartate.
Francesca Mastrostefano, Martina Garofalo, Tommaso Nuzzo, Claudio Bruno, Francesco Errico

J Neurochem· September 2025

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Upper limb progression in Duchenne muscular dystrophy: Insights from a 36-month longitudinal study using the PUL 20.
Giorgia Coratti, Marika Pane, Sophia Paolucci, Luca Bello, Adele D'Amico, Claudio Bruno

J Neuromuscul Dis· September 2025

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Incidental Finding of Unilateral Tensor Fascia Lata Agenesis in a Marathon Runner: An Unreported Phenomenon.
Tommaso Bellini, Claudio Bruno, Giacomo Brisca

Diagnostics (Basel)· September 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, Claudio Bruno

Neurol Sci· August 2025

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Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Claudio Bruno

Mol Genet Genomic Med· August 2025

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Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.
Eleonora Cattin, Elisa Schena, Elisabetta Mattioli, Stefania Marcuzzo, Silvia Bonanno, Claudio Bruno

Cells· August 2025

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Treating juvenile dermatomyositis to target: Paediatric Rheumatology European Society/Childhood Arthritis and Rheumatology Research Alliance-endorsed recommendations from an international task force.
Angelo Ravelli, Silvia Rosina, Jayne M MacMahon, Talia Baird, Ana Isabel Rebollo-Giménez, Claudio Bruno

Ann Rheum Dis· July 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, Claudio Bruno

Eur J Neurol· July 2025

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Spinal Muscular Atrophy Functional Composite Score Revised (SMA-FCR) in Untreated and Nusinersen-Treated Patient Cohorts.
Amy Pasternak, Michael P McDermott, Jacqueline Montes, Allan M Glanzman, Giorgia Coratti, Claudio Bruno

Neurology· July 2025

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Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular Dystrophy.
Luca Bello, Pietro Riguzzi, Emilio Albamonte, Guja Astrea, Roberta Battini, Claudio Bruno

Drugs R D· June 2025

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Italian validation of the SMA independence scale-upper limb module.
Chiara Bravetti, Giorgia Coratti, Maria Carmela Pera, Giulio Gadaleta, Tiziana Mongini, Claudio Bruno

Eur J Pediatr· June 2025

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D- and L-Amino Acid Blood Concentrations Are Affected in Children With Duchenne Muscular Dystrophy.
Martina Garofalo, Chiara Panicucci, Alberto Imarisio, Tommaso Nuzzo, Noemi Brolatti, Claudio Bruno

J Cell Mol Med· May 2025

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Evaluating treatment and care outcomes for neuromuscular diseases in a pediatric intermediate care setting.
Giacomo Brisca, Marina F Strati, Francesca Canzoneri, Marcello Mariani, Daniela Pirlo, Claudio Bruno

Front Pediatr· April 2025

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