Nusinersen rescues taurine deficiency in patients with type 1 Spinal Muscular Atrophy Raffaella di Vito, Amber Hassan, Tommaso Nuzzo, Anna Caretto, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Adele D’Amico, Alessandro Vercelli, Marina Boido, Francesco Errico, Livio Pellizzoni, Alessandro Usiello Communications Medicine, 2026 Spinal Muscular Atrophy (SMA) is a genetic disorder resulting from deficiency of the survival motor neuron (SMN) protein. Emerging evidence indicates that SMA is associated with disruptions in neuroactive amino acid metabolism, contributing to altered neurotransmission. Taurine, the predominant inhibitory neuromodulator in the developing central nervous system (CNS), is critical for synaptic function, osmoregulation, and neuroprotection. Despite its physiological significance, the effects of SMN deficiency on taurine homeostasis and its potential role in SMA pathophysiology remain unexplored. We used high-performance liquid chromatography (HPLC) to quantify taurine in the spinal cord, brainstem, cortex, and cerebellum in SMN∆7 mice, during postnatal development. We then translate our observation into the clinic by measuring taurine concentrations in the cerebrospinal fluid (CSF) from control individuals (n = 7) and SMA patients of varying disease severity (n = 37) before and after therapy with the SMN-inducing drug Nusinersen. Our data show a downregulation of taurine levels in the brainstem of SMN∆7 mice at late symptomatic stage relative to control littermates. Furthermore, we highlight a taurine reduction in the CSF of naïve SMA1 patients compared to controls. Importantly, Nusinersen treatment restored the taurine deficit in these SMA patients. These findings demonstrate that SMN deficiency dysregulates taurine homeostasis in the CNS of overt symptomatic mouse models and SMA1 patients. They also reveal the therapeutic efficacy of Nusinersen treatment in correcting this amino acid deficit. However, further research is needed to determine the mechanisms by which SMN deficiency causes taurine dysregulation and its potential contribution to SMA pathology. Spinal Muscular Atrophy (SMA) is a genetic condition that can be life threatening in infants. Research shows that SMA may change the way the body handles certain natural chemicals that help the brain work properly. One of these chemicals is taurine, which plays an important role in calming and guiding brain activity as babies develop. Until now, taurine had not been studied in connection with SMA. In our study, we found that taurine levels were lower both in mice with SMA and in children with the most severe form of the condition (type 1). Importantly, when these children were treated with the medicine Nusinersen, their taurine levels returned to normal. This suggests that taurine could be closely linked to how SMA develops and affects the brain. di Vito, Hassan et al. investigate the impact of SMN deficiency on taurine homeostasis in SMA mice and patients. They find reduced taurine levels in both the brainstem of SMA mice and in the cerebrospinal fluid of SMA type 1 patients. Importantly, Nusinersen treatment restores taurine levels in these children, highlighting the essential role of SMN in maintaining amino acid and neurotransmitter balance.
A comprehensive framework for the interpretation of TTN missense variants Maria Francesca Di Feo, Martin Rees, Victoria Lillback, Ay Lin Kho, Angelina Meybatova, Mark Holt, Heinz Jungbluth, Francesco Muntoni, Giovanni Baranello, Anna Sarkozy, Chiara Fiorillo, Serena Baratto, Claudio Bruno, Monica Traverso, Michele Iacomino, Marina Pedemonte, Noemi Brolatti, Francesca Faravelli, Federico Zara, G. M. Luana Mandarà, Alan H. Beggs, Casie A. Genetti, Pamela Barraza-Flores, Carmelo Rodolico, Sonia Messina, Franziska Schnabel, Istvan Balogh, Katalin Szakszon, Siiri Sarv, Katrin Õunap, Federica Silvia Ricci, Alessandro Mussa, Edoardo Malfatti, Enrico Silvio Bertini, Adele D’Amico, Daria Diodato, Michela Catteruccia, Gianina Ravenscroft, Mridul Johari, Sergei A. Kurbatov, Polina Chausova, Aysylu Murtazina, Anna Kuchina, Olga Shchagina, Minas Drakos, Martha Spilioti, Athanasios E. Evangeliou, Ioannis Zaganas, Huahua Zhong, Sushan Luo, Luciano Merlini, Cam-Tu-Emilie Nguyen, Giorgio Tasca, Tara Reeves, Stellan Mörner, Olof Danielsson, Bjarne Udd, , Daniel Natera-de Benito, Berta Estevez Arias, Aishwarya Dhall, Bandana Jassal, Venugopalan Y. Vishnu, Mohammed Faruq, Sheffali Gulati, Mehar Chand Sharma, Johana Kopčilová, Tereza Kramářová, Jana Zídková, Mathias Gautel, Marco Savarese Genome Medicine, 2026 BACKGROUND: Missense variants in TTN pose a major challenge in genetic diagnostics due to their high frequency in the general population, the large size of the gene, and the complex multidomain architecture of the titin protein. While the contribution of truncating variants (TTNtv) to titinopathies is well established, the role of rare TTN missense variants remains poorly defined. Advances in computational prediction and functional testing offer new tools to assess their potential pathogenicity, which however are currently not fully utilized for clinical application. METHODS: We analyzed an international cohort of unsolved myopathy cases selected based on the presence of a rare missense variant in trans with a TTNtv. Clinical data were collected from neuromuscular centers worldwide. In silico predictions were generated using AlphaMissense and complemented by minor allele frequency (MAF) and exon usage information. Additional inclusion criteria were based on a MAF < 0.010 and an AlphaMissense score ≥ 0.792 for the missense variants, in accordance with the latest ClinGen guidelines. Selected missense variants were characterized in vitro through protein expression and cell imaging assays to assess their effects on domain solubility and aggregation. RESULTS: Thirty patients with TTNtv/missense combinations were identified, presenting with heterogeneous myopathic phenotypes, ranging from congenital to adult onset. An in-depth analysis on AlphaMissense predictions highlighted those changes most frequently predicted as possibly pathogenic. Functional assays showed that three selected variants with changes to proline, located in β-sheets of Ig domains, led to impaired folding, cytoplasmic aggregation and co-localisation with proteostasis markers. In our cohort, all non-proline mutations occurred at buried sites, while some proline substitutions affected exposed residues. Notably, the variant p.(Gln7023Pro) was identified in 5 unrelated families sharing a conserved haplotype, indicating a common ancestor. This variant and the previously reported p.(Arg25480Pro) now meet ACMG criteria for classification as likely pathogenic. CONCLUSIONS: By integrating clinical, computational, and functional evidence, we propose a framework for interpreting TTN missense variants. Combining multiple lines of evidence is essential for variants’ classification and interpretation, especially given TTN complexity. Advancing diagnostic accuracy will require tailored interpretation guidelines and a global effort in data sharing and functional validation.
X-linked Emery–Dreifuss muscular dystrophy: a multicenter, Italian, cohort study A. Elkoush, R. Giossi, G. Gadaleta, A. Maccabeo, F. Pinna, A. Palladino, M. Giannotta, D. Leone, G. Colacicco, B. Risi, S. Gibertini, L. Verriello, C. Panicucci, C. Bruno, M. Pane, S. Messina, C. Rodolico, A. Pini, G. Vattemi, M. Filosto, A. Padovani, V. A. Sansone, M. C. Carella, C. Forleo, P. Tonin, C. Fiorillo, L. Politano, N. Carboni, T. Mongini, L. Maggi Journal of Neurology, 2026
Loss of ambulation in SMA III at the time of disease-modifying treatments: an international study Giorgia Coratti, Francesca Bovis, Valentina Franchino, Jacqueline Montes, Valeria Ada Sansone, Sally Dunaway Young, Chiara Cutrì, Amy Pasternak, Maria Carmela Pera, Marika Pane, Allan Glanzman, Elena Pegoraro, Tina Duong, Elena Sogus, Maria Sframeli, Sonia Messina, Elzo Cavalcante, Maria Cristina Scoto, Adele D’Amico, Rafael Rodriguez-Torres, Tiziana Mongini, Lorenzo Maggi, Michela Coccia, Massimiliano Filosto, Riccardo Zuccarino, Riccardo Masson, Giulia Ricci, Claudio Bruno, Lucia Ruggiero, Veria Vacchiano, Eustachio D’errico, Lorenzo Verriello, Vincenzo Nigro, Gaia Scarpini, Matteo Garibaldi, Mara Turri, Chiara Ticci, Angela Berardinelli, Caterina Agosto, Federica Ricci, Zarazuela Zolkipli-Cunningham, Basil T Darras, John Day, Michio Hirano, Francesco Muntoni, Richard S Finkel, Eugenio Mercuri Journal of Neurology Neurosurgery and Psychiatry, 2026 Background Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by survival motor neuron (SMN1) deletion. While loss of ambulation in SMA type III typically occurs at a median age of 13.4 years, outcomes in the treatment era remain unclear. This study aims to address that gap by investigating ambulation outcomes in individuals with type III receiving disease-modifying therapies. Methods This retrospective study analysed prospectively collected international data. Time-dependent Cox models assessed the association between treatment initiation and age at loss of ambulation, adjusting for age at onset, sex, SMN2 copies, birth year and country. Treatment was modelled as a time-dependent covariate to avoid immortal time bias. Descriptive analyses used Mann-Whitney U and χ² tests. Results Among 555 individuals with type III, treatment halved the risk of ambulation loss (HR=0.50), with median loss at 44 vs 32 years in treated and untreated groups. Later onset, ≥4 SMN2 copies and female sex were also protective. The treatment effect was significant in type IIIA (HR=0.34) but not IIIB, with no significant interactions by sex, country or SMN2, though effects remained directionally protective. Conclusions Treatment in type III reduced the risk of ambulation loss by 50%, extending median ambulation by 12 years, with the greatest benefit in type IIIA. Later onset, female sex and higher SMN2 copy number were also protective but did not modify treatment effect. These findings underscore the value of early treatment and support its broad use to preserve ambulation across clinical subgroups.
The phenotypic spectrum and genetic determinants of severe spinal muscular atrophy in individuals with a single SMN2 copy: an international retrospective observational study Gianpaolo Cicala, Anna Capasso, Marianna Villa, Giorgia Coratti, Chiara Arpaia, Caterina Agosto, Stefania Corti, Federica Ricci, Claudio Bruno, Susan Matesanz, Brianna Gross, Daniel Guillen Mendoza, Nancy Kuntz, Janbernd Kirschner, Andreas Ziegler, Laurent Servais, Fay-Linn Asselman, Ludo van der Pol, Claudia Castiglioni, Andres Nascimiento, Eduardo Fidel Tizzano, Rodrigo Holanda Mendonça, Edmar Zanoteli, Pinki Munot, Mariacristina Scoto, Richard Finkel, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri, Antonella Pini, Valeria Sansone, Emilio Albamonte, Giulia Gilberti, Antonio Varone, Ilaria Bitetti, Paolo Alonge, Filippo Brighina, Michele Sacchini, Martina Ricci, Barbara Risi, Noemi Brolatti, Romina Venditti, Maddalena Bianchetti, Roberto De Sanctis, Daniela Leone, Concetta Palermo, Beatrice Berti, Chiara Cutri, Chiara Bravetti, Francesca Magri, Delia Gagliardi, Giacomo Comi, Dario Ronchi Eclinicalmedicine, 2026 Background: copy and the possible association with genotype and outcome. Methods: copy, including clinical severity, genotype, treatment exposure, and survival at last follow-up. Findings: . Interpretation: copy with milder phenotypes carried variants known to mitigate disease severity. Further prospective studies are needed to better define genotype-phenotype correlations and inform treatment decisions in this population. Funding: Some of the data in this study originate from disease registries at least partially funded by Biogen, Novartis and Roche.
Skeletal muscle in spinal muscular atrophy: Critical insights from pathogenesis to therapeutic strategies Linda Ottoboni, Chiara Panicucci, Giulia Magni, Delia Gagliardi, Michela Ripolone, Laura Napoli, Maurizio Moggio, Giacomo Pietro Comi, Claudio Bruno, Stefania Paola Corti Neurobiology of Disease, 2026 Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder caused by loss of the survival motor neuron (SMN) protein. While SMA was originally viewed as a pure motor neuron disease, it is currently considered a multi-system disorder in which skeletal muscle plays a pathogenic role. Muscular defects, such as impaired myogenesis and mitochondrial dysfunction, contribute to pathogenesis partly independently of denervation. Accumulating evidence suggests that the SMN deficit impairs muscle development from the earliest stages of fetal life, with delayed myotube maturation and modification of the expression of myogenic regulatory factors. This leads to pathology characterized by selective fiber atrophy, metabolic disturbances, and severe involvement of axial and intercostal musculature with relative sparing of the diaphragm. Furthermore, despite the revolutionary therapeutic effects of nusinersen, risdiplam, and onasemnogene abeparvovec, skeletal muscle abnormalities remain frequent, particularly in symptomatic patients, highlighting the need for muscle-directed therapies. Of the current candidate approaches, myostatin inhibition, targeting a negative regulator of muscle mass, is the most clinically advanced, while other strategies such as mitochondrial protection remain at earlier developmental stages. Work with neuromuscular models and stem cell-derived organoids continues to shed light on the SMN-mediated interactions between muscle and nerve. Collectively, these findings indicate that skeletal muscle is both a key driver of SMA pathology and an essential target for novel therapies.
Muscle transcriptomics of alpha-sarcoglycanopathy highlights inflammatory pathways driving disease Adriana Amaro, Francesco Reggiani, Chiara Panicucci, Mariangela Petito, Serena Baratto, Sara Pintus, Elisa Principi, Francesca Antonini, Genny Del Zotto, Valerio Gaetano Vellone, Adele D’Amico, Diego Lopergolo, Paola Tonin, Edoardo Malfatti, Tiziana Mongini, Elena Pegoraro, Stefano C Previtali, Carmelo Rodolico, Giorgio Tasca, Chiara Fiorillo, Elisabetta Gazzerro, Ulrich Pfeffer, Claudio Bruno, Lizzia Raffaghello Brain, 2026 Muscular dystrophies are a heterogeneous group of genetic disorders associated with an aberrant inflammatory response, that contributes to disease progression impairing regeneration and inducing fibrosis. Sarcoglycanopathies are recessively inherited limb-girdle muscular dystrophies (LGMDRs), in which the role of inflammation and its association with disease severity remains poorly understood, particularly in alpha-sarcoglycanopathy (LGMDR3). This study characterizes skeletal muscle and peripheral inflammatory signatures in 16 LGMDR3 patients and 8 unaffected individuals through bulk RNA sequencing with additional validation in Sgca-null mice. Patients were classified into mild and severe groups based on alpha sarcoglycan (SGCA) expression in muscle biopsy. Peripheral immunophenotype was assessed via flow cytometry analysis of peripheral blood mononuclear cells (PBMC). Principal component analysis showed a clear separation of severe LGMDR3 from mild LGMDR3 and unaffected individuals, with the latter two groups overlapping. Unsupervised hierarchical clustering analysis of the most variable genes identified distinct gene expression profiles between severe and mild LGMDR3 samples. Severe LGMD3 showed overexpression of innate immune system and T-cell activation pathways, with higher abundance of inflammatory infiltrate, mainly monocytes, cytotoxic T cells and dendritic cells. Notably, severe LGMDR3 were characterized by enrichment of M1-polarized macrophages and pro-inflammatory chemokines, whereas M2-polarized monocytes predominated in mild cases. Similar inflammatory profiles were observed in Sgca-null mice. PBMC analysis revealed significantly increased CD8+, TH1 CD4+ lymphocytes and activated monocytes in LGMDR3 patients compared with controls. Severe LGMDR3 patients additionally showed overexpression of genes governing fibrosis and muscle tissue regeneration and exhibited a clustering pattern similar to Duchenne muscular dystrophy patients. In conclusion, this study represents the first comprehensive characterization of LGMDR3 immunological profiles and demonstrated that inflammation plays a significant role in severe disease pathogenesis. The distinct immune signatures separating severe from mild cases provide a foundation for developing targeted anti-inflammatory therapies that may benefit severe LGMDR3 patients with severe phenotype.
Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies Linda Ottoboni, Claudio Bruno, Stefania Corti Brain, 2026 Spinal muscular atrophy (SMA) is a devastating neurodegenerative disorder caused by SMN1 gene mutations that lead to compromised production of survival motor neuron (SMN) protein. The inflammatory footprint of SMA extends beyond neural tissues, leading to significant inflammatory manifestations across multiple body systems. In motor neurons, several molecular pathways contribute to local degeneration: cytokine activation, purinergic signalling, NF-κB pathway stimulation, complement cascade activation and glutamate excitotoxicity. These mechanisms, which involve reactive glial and immune cells, trigger neuroinflammation and non-cell-autonomous death processes that can affect non-neural organ systems. Biological samples from patients with SMA and model systems of SMA consistently exhibit altered immune patterns, elevated inflammatory markers, and immunocyte and glial dysfunction. Even revolutionary SMN-restoring therapy for SMA may not treat the potential inflammation-related aspects of the disease. Current research has identified both anti-inflammatory and pro-inflammatory effects and outcomes after SMN restoration, with unclear implications. Preclinical investigations targeting inflammation in SMA models have yielded promising findings, although optimal intervention timing requires refinement. Despite these encouraging results, translation to clinical practice remains unrealized. The field requires advanced investigative approaches, particularly single-cell RNA sequencing, to elucidate inflammatory molecular pathways, identify novel biomarkers for early detection and develop targeted anti-inflammatory agents that complement SMN-augmenting therapies. Understanding the inflammatory mechanisms associated with SMA is crucial for developing effective combination therapies addressing both SMN deficiency and inflammatory processes. Elucidating inflammation timing and mechanisms will inform optimal intervention windows and identify patients most likely to benefit from combined treatment approaches. Future research should prioritize personalized strategies targeting both SMN-dependent and inflammatory pathways.
Safety and Tolerability of Givinostat: Evidence From Real-World and Clinical Practice Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri Annals of Clinical and Translational Neurology, 2026 Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean 10.1 years, SD: 3.2 years) and with a follow up between 6.0 and 14.6 months (mean 10.6 months; SD 2.6 months). Results Platelets count decrease and triglyceride levels increase were the most common adverse events, followed by diarrhea. A dose reduction was needed in 38 of the 90 boys following thrombocytopenia ( n = 34), diarrhea ( n = 2), and hypertriglyceridemia ( n = 4), with two of the boys presenting both thrombocytopenia and hypertriglyceridemia. Eleven of the 38 boys with initial dose reduction (10 with thrombocytopenia and 1 with hypertriglyceridemia) required an additional dose reduction for persistence of values outside the threshold, with one of them discontinuing treatment because of persistent hypertriglyceridemia even with the lowest dose. Interpretation Our results confirm the safety profile observed in the pivotal study providing further evidence of the management of the drug in a real‐world setting. In our experience, treatment with givinostat was well managed by maintaining a strict monitoring. This was facilitated by allowing families to perform blood tests in local labs, reducing the stress and burden of frequent visits to the hospital.
Vertebral fractures and muscle function in glucocorticoid-treated individuals with Duchenne muscular dystrophy: a cohort study Anna Capasso, Chiara Arpaia, Chiara Panicucci, Consolato Gulli, Marianna Villa, Agnese Repetto, Giorgia Coratti, Simone Morando, Gianpaolo Cicala, Alessandro Oliva, Domenico Milardi, Clelia Cipolla, Gennaro Catapano, Anna Marzoli, Maria Beatrice Damasio, Claudia Brogna, Concetta Palermo, Natascia Di Iorgi, Claudio Bruno, Luana Ficociello, Simona Gaudino, Marika Pane, Leanne M. Ward, Eugenio Mercuri Osteoporosis International, 2026 Brief rationale: To investigate vertebral fracture and risk factors in DMD. MAIN RESULTS: Vertebral fractures were found in 42% of subjects with an increased risk associated with low TB BMD, early steroid exposure and low BMI. Significance of the paper: Bone health monitoring should start early, regardless of functional status. PURPOSE: To describe the prevalence of vertebral fractures (VFs) in Duchenne Muscular Dystrophy (DMD) and to establish the role of several risk factors, focusing on ambulatory status and functional motor scores (Performance Upper Limb, North Star Ambulatory Assessment) not previously assessed. METHODS: We recorded the number and site of fractures together with anthropometric, radiological (total body bone mineral density (TB BMD) Z-scores measured by Dual Energy X-ray Absorptiometry (DXA)), and functional scales. Logistic and linear regression analyses were conducted to identify factors associated with prevalent VFs and predictors of Spinal Deformity Index (SDI). RESULTS: Of the 149 individuals (7-26 years) studied, 62 (42%) had VFs. These were equally present in ambulant and non-ambulant individuals (41 vs 42%) and were not associated with functional scores. The TB BMD Z-score was a protective factor both in non-ambulant and ambulant subgroups. Lower TB BMD Z-scores were also predictive of a greater SDI. In the ambulant subgroup a lower BMI reduced the risk of VF. In the overall cohort, each one-year delay in starting glucocorticoids reduced the risk of VFs by 27% (p = 0.007), and each additional unit in TB BMD Z-score reduced the risk of VFs by 54% (p = 0.0007). CONCLUSION: Our results suggest that ambulatory status and functional scores alone may not be reliable predictors for developing VFs and confirm the association with known risk factors, such as early initiation of glucocorticoid therapy and low BMD Z-scores, highlighting the need to guarantee a careful surveillance of possible VFs from the time of glucocorticoid initiation.
Whole-Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca Annals of Clinical and Translational Neurology, 2026
Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24-Month Follow-Up From the Italian Registry Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, and Annals of Clinical and Translational Neurology, 2026
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, and Annals of Clinical and Translational Neurology, 2026
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, Alberto Burlina, Anna Cavallini, Daniela Concolino, Viola Crescitelli, Adele D’Amico, Federica Deodato, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Rita Fischetto, Agata Fiumara, Francesca Furlan, Vincenza Gragnaniello, Damiano Mala, Monica Marica, Francesca Menni, Veronica Pagliardini, Claudia Panicucci, Giancarlo Parenti, Andrea Pession, Federica Ricci, Valentina Rovelli, Michele Sacchini, Filippo Maria Santorelli, Lucia Santoro, Maurizio Scarpa, Roberta Taurisano, Albina Tummolo, Francesco Porta Orphanet Journal of Rare Diseases, 2025
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, Erika L. Finanger, Amy Harper, Mercedes Lopez Lobato, Riccardo Masson, Nuria Muelas, Francina Munell, Yoram Nevo, Yann Péréon, Han Phan, Valeria A. Sansone, Mariacristina Scoto, Tracey Willis, Richard S. Finkel, Krista Vandenborne, Sara Cazzaniga, Silvia Montrasio, Federica Alessi, Paolo Bettica, Eugenio Mercuri, , , and Annals of Clinical and Translational Neurology, 2025
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α-Sarcoglycan Muscular Dystrophy Cecilia Astigiano, Elisa Principi, Sara Pintus, Andrea Benzi, Serena Baratto, Chiara Panicucci, Mario Passalacqua, Juan Sierra-Marquez, Annette Nicke, Francesca Antonini, Genny Del Zotto, Annunziata Gaetana Cicatiello, Lizzia Raffaghello, Tanja Rezzonico Jost, Fabio Grassi, Santina Bruzzone, Claudio Bruno, Elisabetta Gazzerro ACS Pharmacology and Translational Science, 2025
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, Marika Pane, Sonia Messina, Riccardo Masson, Adele D’Amico, Enrico Bertini, Antonella Pini, Federica Ricci, Tiziana Mongini, Claudio Bruno, Katia Patanella, Maria Sframeli, Claudia Dosi, Silvia Bonanno, Gaia Scarpini, Noemi Brolatti, Alice Zanolini, Chiara Bravetti, Maria Carmela Pera, Eugenio Maria Mercuri, Valeria Ada Sansone, , Amanda Ferrero, Ucci Maria, Eleonora Minacapilli, Veria Vecchiano, Elena Briganti, Irene Bruno, Andrea Magnolato, Luciana Nigro, Michele Sacchini, Chiara Ticci, Michela Catteruccia, Giacomo Comi, Angela Berardinelli, Esther Picillo, Ilaria Bitetti, Giuliana Capece, Caterina Agosto, Francesca Benedetti, Giulia Ricci, Stefano Previtali, Alberto Zambon, Francesca Salmin, Marina Pedemonte, Riccardo Zanin, Riccardo Zuccarino Neurological Sciences, 2025
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, Claas Hinze, Liza J. McCann, Ann M. Reed, Lisa G. Rider, Matilde Arvigo, Brigitte Bader-Meunier, Claudio Bruno, Li Caifeng, Raquel Campanilho-Marques, Sara Cuccato, Chiara Fiorillo, Nikki A. Hahn, Adam M. Huber, Marc Jansen, Ozgur Kasapcopur, Maria Martha Katsikas, Susan Kim, Polly Livermore, Sue Maillard, Clara Malattia, Angela Nyangore Migowa, Takako Miyamae, Ruth Murphy, Rebecca Nicolai, Charalampia Papadopoulou, Clarissa Pilkington, Helga Sanner, Sujata Sawhney, Elzbieta Smolewska, Stacey E. Tarvin, Georgina Tiller, Natasa Toplak, Lucy R. Wedderburn, Francesca Bovis, Alessandro Consolaro, Brian M. Feldman Annals of the Rheumatic Diseases, 2025
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, Irene Mizzoni, Allan M. Glanzman, Simone Morando, Jacqueline Montes, Ilaria Cavallina, Sally Dunaway Young, Tina Duong, Enrica Rolle, Matthew Civitello, Roberto De Sanctis, Chiara Bravetti, Federica Ricci, Giulio Gadaleta, Tiziana Mongini, Maria Sframeli, Maria Carmela Pera, Sonia Messina, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Michio Hirano, Zarazuela Zolkipli‐Cunningham, Basil T. Darras, Enrico Bertini, Claudio Bruno, John Day, Valeria A. Sansone, Richard S. Finkel, Eugenio Mercuri, and European Journal of Neurology, 2025
Italian validation of the SMA independence scale–upper limb module Chiara Bravetti, Giorgia Coratti, Maria Carmela Pera, Giulio Gadaleta, Tiziana Mongini, Michela Coccia, Amanda Ferrero, Emanuele Maria Costantini, Antonella Longo, Francesca Cumbo, Michela Catteruccia, Adele D’Amico, Simone Morando, Noemi Brolatti, Claudio Bruno, Lorenzo Verriello, Maria Elena Pessa, Laura Antonaci, Claudia Faini, Rocco Liguori, Veria Vacchiano, Lucia Ruggiero, Dario Zoppi, Anna Russo, Francesca Torri, Giulia Ricci, Roberto Chiappini, Gabriele Siciliano, Antonio Trabacca, Caterina Agosto, Francesca Benedetti, Marika Pane, Eugenio Mercuri, , Anna Capasso, Chiara Arpaia, Gianpaolo Cicala, Sophia Paolucci, Chiara Cutrì, Marianna Villa, Simona Sestito, Agnese Polo, Anna Falco, Azzurra Rausa, Marianna Moro, Chiara Porto, Alessia De Gioia, Elena De Rosa, Elisa Rolleri, Federica Ascione, Federica Giammartino, Giorgia Petracca, Lucia Esposito, Maddalena Bianchetti, Giuseppe Marsella, Martina Malaspina, Irene Dainesi, Sara Mannucci, Martina De Maria, Giacomo De Luca, Irene Mizzoni, Adelina Carlesi European Journal of Pediatrics, 2025
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, 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 Drugs in R and D, 2025
Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey M.T.A. Kruse, B.A.S. Olde Dubbelink, M. Kroneman, I. de Groot, S. Schlüter, M. de Visser, T. Evangelista, A. Moretti, D. Weber, L.M. Ward, N.C. Voermans, A. D'Amico, J. Baets, M. Baumann, N. van der Beek, J. De Bleecker, A. Bruijnes, K. Claeys, C. Bruno, M. Dambrauskiene, E. D'Errico, M. Filosto, M. Gosk-Tomek, S. Herdewyn, C. Kornblum, A. Kostera-Pruszczyk, L. Maggi, F. Manganelli, W. Mueller-Felber, F. Munell, A. Nadaj-Pakleza, A. Nascimento, M. Olive, K. Ørstavik, J. Palmio, E. Pegoraro, B. Peterlin, A.T. van der Ploeg, S. Quijano-Roy, G. Remiche, G. Ricci, M. Rohlenová, A. Rosenbohm, S. Sacconi, V. Sansone, M. Santos, U. Schara-Schmidt, S. Servidei, G. Siciliano, D. Soler, T. Stojkovic, L. Vali, J. Verschuuren, K. Viktorija, R.I. Wadman, M.C. Walter, C. Weiss, E. Zamba-Papanicolaou, A. Zambon Journal of the Neurological Sciences, 2025
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model Lein N H Dofash, Lee B Miles, Yoshihiko Saito, Eloy Rivas, Vanessa Calcinotto, Sara Oveissi, Rita J Serrano, Rachel Templin, Georg Ramm, Alison Rodger, Joel Haywood, Evan Ingley, Joshua S Clayton, Rhonda L Taylor, Chiara L Folland, David Groth, Daniella H Hock, David A Stroud, Svetlana Gorokhova, Sandra Donkervoort, Carsten G Bönnemann, Malika Sud, Grace E VanNoy, Brian E Mangilog, Lynn Pais, Anne O’Donnell-Luria, Marcos Madruga-Garrido, Marcello Scala, Chiara Fiorillo, Serena Baratto, Monica Traverso, Edoardo Malfatti, Claudio Bruno, Federico Zara, Carmen Paradas, Katsuhisa Ogata, Ichizo Nishino, Nigel G Laing, Robert J Bryson-Richardson, Macarena Cabrera-Serrano, Gianina Ravenscroft Brain, 2025
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity Domenico Gorgoglione, Daniele Sabbatini, Pietro Riguzzi, Giuliana Capece, Marika Pane, Serenella Servidei, Marta Briganti, Cristina Sancricca, Fabio Bruschi, Anna Ardissone, Riccardo Masson, Annamaria Gallone, Lorenzo Maggi, Esther Picillo, Luisa Politano, Angela Petrosino, Sara Vianello, Martina Penzo, Matteo Villa, Maria Sframeli, Cosimo Allegra, Andrea Barp, Alessandra Di Bari, Francesca Salmin, Emilio Albamonte, Giovanni Colacicco, Chiara Panicucci, Monica Traverso, Concetta Palermo, Alberto Lerario, Daniele Velardo, Maria G D’Angelo, Angela Berardinelli, Alice Gardani, Roberta Nicotra, Stefano Parravicini, Gabriele Siciliano, Giulia Ricci, Francesca Torri, Giulio Gadaleta, Guido Urbano, Enrica Rolle, Federica Ricci, Adele D'Amico, Michela Catteruccia, Antonella Pini, Melania Giannotta, Roberta Battini, Gemma Marinella, Stefano C Previtali, Alberto A Zambon, Alessandra Ferlini, Fernanda Fortunato, Francesca Magri, Tiziana E Mongini, Valeria A Sansone, Claudio Bruno, Sonia Messina, Vincenzo Nigro, Isabella Moroni, Eugenio Mercuri, Luca Bello, Elena Pegoraro Brain, 2025
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey Anna Capasso, Gianpaolo Cicala, Martina Ricci, Marika Pane, Adele D’Amico, Claudio Bruno, Valeria Ada Sansone, Sonia Messina, Luca Bello, Elena Pegoraro, Maria Grazia D’Angelo, Riccardo Masson, Angela Berardinelli, Antonella Pini, Federica Ricci, Tiziana Enrica Mongini, Michela Coccia, Vincenzo Nigro, Antonio Trabacca, Massimiliano Filosto, Giacomo Comi, Francesca Magri, Andrea Barp, Roberta Battini, Stefano Carlo Previtali, Maria Lucia Valentino, Eleonora Diella, Claudia Dosi, Lucia Ruggiero, Gabriele Siciliano, Giulia Ricci, Michela Catteruccia, Chiara Arpaia, Giorgia Coratti, Giulia Norcia, Silvia Bonanno, Lorenzo Verriello, Caterina Agosto, Antonio Varone, Alessandra Ferlini, Maria Antonietta Maioli, Claudia Brogna, Sabrina Siliquini, Irene Bruno, Chiara Panicucci, Cosimo Allegra, Emilio Albamonte, Eugenio Mercuri, , Concetta Palermo, Daniela Leone, Costanza Cutrona, Laura Antonaci, Simona Lucibello, Elisabetta Ferraroli, Maria Carmela Pera, Giulia Stanca, Bianca Buchignani, Lorenzo Maggi, Enrico Bertini, Giacomo de Luca, Marina Pedemonte, Federica Trucco, Melania Giannotta, Riccardo Zanin, Maria Sframeli, Alessandra Nastasi, Simona Damioli, Alice Gardani, Riccardo Zuccarino, Alberto A. Zambon, Amanda Ferrero, Giorgia Bruno European Journal of Pediatrics, 2025
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy Chiara Panicucci, Eray Sahin, Martina Bartolucci, Sara Casalini, Noemi Brolatti, Marina Pedemonte, Serena Baratto, Sara Pintus, Elisa Principi, Adele D’Amico, Marika Pane, Marina Sframeli, Sonia Messina, Emilio Albamonte, Valeria A. Sansone, Eugenio Mercuri, Enrico Bertini, Ugur Sezerman, Andrea Petretto, Claudio Bruno Cellular and Molecular Life Sciences, 2024
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, Francesca Salmin, Allan M. Glanzman, Jacqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Jesica Exposito Escudero, Liesbeth De Waele, Michio Hirano, Zarazuela Zolkipli‐Cunningham, Basil T. Darras, Enrico Bertini, Andres Nascimiento Osorio, Claudio Bruno, Natalie Goemans, Valeria A. Sansone, John Day, Giovanni Baranello, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, and European Journal of Neurology, 2024
Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016 Maria Carmela Pera, Giorgia Coratti, Marika Pane, Riccardo Masson, Valeria Ada Sansone, Adele D’Amico, Michela Catteruccia, Caterina Agosto, Antonio Varone, Claudio Bruno, Sonia Messina, Federica Ricci, Irene Bruno, Elena Procopio, Antonella Pini, Sabrina Siliquini, Riccardo Zanin, Emilio Albamonte, Angela Berardinelli, Chiara Mastella, Giovanni Baranello, Stefano Carlo Previtali, Antonio Trabacca, Chiara Bravetti, Delio Gagliardi, Massimiliano Filosto, Roberto de Sanctis, Richard Finkel, Eugenio Mercuri, Alice Gardani, Maria Antonella Costantino, Ilaria Bitetti, Matteo Tuana Franguel, Maria Sframeli, Andrea Magnolato, Myriam Rausa, Elena Pagliaccia, Mirea Negri, Cesare Del Monaco, Beatrice Berti, Daniela Leone, Concetta Palermo, Enrico Bertini, Antonella Longo, Claudia Dosi, Sara Carnicella, Simone Morando, Noemi Brolatti, Alessandra Vento, Ilaria Cavallina, Roberta Ferrante, Laura Bernasconi, Marco Piastra, Orazio Genovese, Nicola Forcina, Francesca Benedetti, Simona Damioli, Lavinia Fanelli, Giulia Stanca, Giulia Norcia, Matteo Sacchini, Chiara Ticci, Elena Briganti Eclinicalmedicine, 2024
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, Allan M Glanzman, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Adele D'Amico, Michela Catteruccia, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, Francesca Salmin, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard S. Finkel, Eugenio Mercuri Neuromuscular Disorders, 2024
Early treatment of type II SMA slows rate of progression of scoliosis Giorgia Coratti, Jacopo Lenkowicz, Maria Carmela Pera, Adele D'Amico, Claudio Bruno, Consolato Gullì, Noemi Brolatti, Marina Pedemonte, Laura Antonaci, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Costanza Cutrona, Roberto de Sanctis, Sara Carnicella, Nicola Forcina, Michela Cateruccia, Maria Beatrice Damasio, Luca Labianca, Francesca Manfroni, Antonio Leone, Enrico Bertini, Marika Pane, Stefano Patarnello, Vincenzo Valentini, Eugenio Mercuri Journal of Neurology Neurosurgery and Psychiatry, 2024
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, Jaqueline Montes, Amy Pasternak, Roberto De Sanctis, Sally Dunaway Young, Tina Duong, Irene Mizzoni, Evelin Milev, Maria Sframeli, Simone Morando, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Marika Pane, Mariacristina Scoto, Sonia Messina, Michio Hirano, Zarazuela Zolkipli-Cunningham, Basil T Darras, Enrico Bertini, Claudio Bruno, Valeria A Sansone, John Day, Giovanni Baranello, Maria Carmela Pera, Francesco Muntoni, Richard Finkel, Eugenio Mercuri Neuromuscular Disorders, 2024
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, Amy Pasternak, Anna Mayhew, Robert Muni‐Lofra, Tina Duong, Annemarie Rohwer, Sally Dunaway Young, Matthew Civitello, Francesca Salmin, Irene Mizzoni, Simone Morando, Marika Pane, Emilio Albamonte, Adele D'Amico, Noemi Brolatti, Maria Sframeli, Chiara Marini‐Bettolo, Valeria Ada Sansone, Claudio Bruno, Sonia Messina, Enrico Bertini, Giovanni Baranello, John Day, Basil T. Darras, Darryl C. De Vivo, Michio Hirano, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, and European Journal of Neurology, 2024
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 Federica Trucco, Deborah Ridout, Harriet Weststrate, Mariacristina Scoto, Annemarie Rohwer, Giorgia Coratti, Marion L. Main, Anna G. Mayhew, Jacqueline Montes, Roberto De Sanctis, Marika Pane, Maria Carmela Pera, Valeria A. Sansone, Emilio Albamonte, Adele D'Amico, Claudio Bruno, Sonia S. Messina, Anne-Marie Childs, Tracey Willis, Min T. Ong, Laurent Servais, Anirban Majumdar, Imelda Hughes, Chiara Marini-Bettolo, Deepak Parasuraman, Vasantha L. Gowda, Giovanni Baranello, Enrico S. Bertini, Darryl C. De Vivo, Basil T. Darras, John W. Day, Oscar Mayer, Zarazuela Zolkipli-Cunningham, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni, and Neurology Clinical Practice, 2024
Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study Bianca Buchignani, Gianpaolo Cicala, Francesca Cumbo, Martina Ricci, Anna Capasso, Chiara Ticci, Sara Mazzanti, Noemi Brolatti, Michele Tosi, Claudia Dosi, Laura Antonaci, Giorgia Coratti, Maria Carmela Pera, Daniela Leone, Concetta Palermo, Beatrice Berti, Anna Lia Frongia, Michele Sacchini, Claudio Bruno, Riccardo Masson, Adele D’Amico, Roberta Battini, Marika Pane, Eugenio Mercuri Archives of Disease in Childhood, 2024
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, Anna Mayhew, Marika Pane, Annemarie Rohwer, Robert Muni Lofra, Tina Duong, Emer O’Reilly, Evelin Milev, Matthew Civitello, Valeria A. Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Mazzone, Marion Main, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Giovanni Baranello, Mariacristina Scoto, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni, and Journal of Neuromuscular Diseases, 2024
The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy Luca Bello, Daniele Sabbatini, Aurora Fusto, Domenico Gorgoglione, Giovanni Umberto Borin, Martina Penzo, Pietro Riguzzi, Matteo Villa, Sara Vianello, Chiara Calore, Paola Melacini, Riccardo Vio, Andrea Barp, Grazia D’Angelo, Sandra Gandossini, Luisa Politano, Angela Berardinelli, Sonia Messina, Gian Luca Vita, Marina Pedemonte, Claudio Bruno, Emilio Albamonte, Valeria Sansone, Giovanni Baranello, Riccardo Masson, Guja Astrea, Adele D’Amico, Enrico Bertini, Marika Pane, Simona Lucibello, Eugenio Mercuri, Christopher Spurney, Paula Clemens, Lauren Morgenroth, Heather Gordish-Dressman, Craig M. McDonald, Eric P. Hoffman, Elena Pegoraro, and Journal of Neuromuscular Diseases, 2024
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia Monica Traverso, Serena Baratto, Michele Iacomino, Marco Di Duca, Chiara Panicucci, Sara Casalini, Marina Grandis, Antonio Falace, Annalaura Torella, Esther Picillo, Maria Elena Onore, Luisa Politano, Vincenzo Nigro, A. Micheil Innes, Rita Barresi, Claudio Bruno, Federico Zara, Chiara Fiorillo, Marcello Scala European Journal of Human Genetics, 2024
Decreased free D-aspartate levels in the blood serum of patients with schizophrenia Martina Garofalo, Giuseppe De Simone, Zoraide Motta, Tommaso Nuzzo, Elisa De Grandis, Claudio Bruno, Silvia Boeri, Maria Pia Riccio, Lucio Pastore, Carmela Bravaccio, Felice Iasevoli, Francesco Salvatore, Loredano Pollegioni, Francesco Errico, Andrea de Bartolomeis, Alessandro Usiello Frontiers in Psychiatry, 2024
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, Luca Bello, Valeria A. Sansone, Emilio Albamonte, Elisabetta Ferraroli, Elena Stacy Mazzone, Lavinia Fanelli, Sonia Messina, Maria Sframeli, Michela Catteruccia, Gianpaolo Cicala, Anna Capasso, Martina Ricci, Silvia Frosini, Giacomo De Luca, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Giulia Norcia, Luigia Passamano, Marianna Scutifero, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Daniela Leone, Riccardo Zanin, Gian Luca Vita, Chiara Panicucci, Claudio Bruno, Tiziana Mongini, Federica Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Giovanni Baranello, Claudia Dosi, Enrico Bertini, Vincenzo Nigro, Luisa Politano, Eugenio Mercuri Neuromuscular Disorders, 2024
The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy Giovanni Baranello, Susana Quijano Roy, Laurent Servais, Francina Munell, Mireia Alvarez Molinero, Daniel Natera de Benito, Andres Nascimento, David Gomez-Andres, Laura Costa Comellas, Jessica Exposito, Eduardo F. Tizzano, Inge Cuppen, Ludo Van der Pol, Alberto Aleman, Hanns Lochmuller, Hugh McMillan, Janbernd Kirschner, Cornelia Müller, Maryam Oskoui, Riccardo Masson, Claudio Bruno, Hernan D. Gonorazky, Carolina Tesi-Rocha, Amanda Marie Yaworski, Edmar Zanoteli, Rodrigo Mendonca, Adele D'Amico, Francesca Cumbo, Michele Tosi, Marika Pane, Eugenio Mercuri, Flavia Nardes, Alexandra Prufer, Brenda Klemm Arci, Samuel Ignacio Pascual, Aviva Fattal-Valevski, Liesbeth De Waele, Nicolas Deconinck, Michelle Farrar, Jana Haberlova, Marta Gomez-Garcia de la Banda, Anne-Marie Childs, Cristina Martos, Elizabeth Wraige, Vasantha Gowda, Marjorie Illingworth, Min Ong, Anirban Majundar, Imelda Hughes, Krupa Torne, Tracey Willis, Sithara Ramdas, Christian De Goede, Yasemin Erbas, Chiara Brusa, Mariacristina Scoto, Francesco Muntoni European Journal of Paediatric Neurology, 2024
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable? Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A. Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Filosto, Giacomo P. Comi, Stefania Corti, Dario Ronchi, Lorenzo Maggi, Maria G. D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S. Ricci, Angela L. Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C. Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Francesco Danilo Tiziano, Eugenio Mercuri, and Annals of Neurology, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini Orphanet Journal of Rare Diseases, 2023
Correction to: Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study (Neurology and Therapy, (2023), 12, 2, (543-557), 10.1007/s40120-023-00444-1) Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, Nicolas Deconinck, Irina Balikova, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Nathalie Goemans, Catherine Cassiman, Lies Prove, Lisa Vancampenhout, Marleen van den Hauwe, Annelies Van Impe, Claude Cances, Vincent Soler, Lauriane Maillard De La Morandais, Delphine Vovan, Pascal Cintas, Françoise Auriol, Marianne Mus, Gwennaelle Alphonsa, Valerie Bellio, Olaia Gil Mato, Florence Flamein, Cécile Evrard, Amina Ziouche, Ikram Bouacha-Allou, Philippe Debruyne, Gilles Derlyn, Sabine Defoort, Florian Leroy, Loïc Danjoux, Isabelle Desguerre, Dominique Bremond-Gignac, Maxence Rateuax, Elodie Deladrière, Carole Vuillerot, Quentin Veillerot, Bénédicte Sibille-Dabadi, Aurélie Barrière, Marie Tinat, Manel Saidi, Stephanie Fontaine, Camille De Montferrand, Laure Le-Goff, Aurélie Portefaix, Ulrike Walther Louvier, Pierre-André Duval, Pascale Caradec, Souad Touati, Alberto Zamora Herranz, Janbernd Kirschner, Jan Bollig, Fanni Molnár, Sibylle Vogt, Astrid Pechmann, David Schorling, Sabine Wider, Heike Kölbel, Ulrike Schara, Frederik Braun, Andrea Gangfuss, Tim Hagenacker, Anja Eckstein, Dirk Dekowski, Michael Oeverhaus, Mareile Stoehr, Barbara Andres, Karin Smuda, Enrico Bertini, Adele D’Amico, Sergio Petroni, Paola Valente, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Marina Pedemonte, Noemi Brolatti, Enrico Priolo, Giuseppe Rao, Lorenza Sposetti, Simone Morando, Giacomo Comi, Silvia Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foà, Maria Amalia Lopopolo, Francesca Magri, Alessandra Govoni, Megi Meneri, Valeria Parente, Eugenio Mercuri, Laura Antonaci, Maria Carmela Pera, Marika Pane, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D’Amico, Lorenzo Orazi, Giorgia Coratti, Roberto De Sanctis, Giuseppe Vita, Maria Sframeli, Gian Luca Vita, Pasquale Aragona, Leandro Inferrera, Elisa Imelde Postorino, Daniela Montanini, Vincenzo Di Bella, Concetta Donato, Elisabetta Calà, Ludo Van der Pol, Jos Aalbers, Joke de Boer, Saskia Imhof, Pascale Cooijmans, Thijs Ruyten, Danny Van Der Woude, Anna Kostera-Pruszczyk, Beata Klimaszewska, Dominika Romańczak, Zuzanna Gierlak-Wójcicka, Malwina Kępa, Adam Sikorski, Marcin Sobieraj, Anna Lusakowska, Biruta Kierdaszuk, Karolina Czeczko, Dirk Fischer, Bettina Henzi, Konstantin Gugleta, Akos Kusnyerik, Patricia Siems, Sabina Akos, Nora Frei, Christine Seppi, Christine Wondrusch Haschke, Michela Guglieri, Volker Straub, Richard Bell, Mahmoud Nassar, Stuart Page, Michael Patrick Clarke, Aedheen Regan, Anna Mayhew, Robert Muni Lofra, Deepak Parasuraman, Simone Bruschi, Abdul-Jabbar Ghauri, Andrew Castle, Saima Naqvi, Nicola Patt, Mariacristina Scoto, Federica Trucco, Robert H Henderson, Roopen Kukadia, Will Moore, Evelin Milev, Catherine Rye, Victoria Selby, Amy Wolfe, Basil Darras, Anna Maria Baglieri, Anne Fulton, Courtney Lucken, Elizabeth Maczek, Amy Pasternak, Claudia A Chiriboga, Steven Kane, Ma Edylin M. Bautista, Eileen Frommer, Noelle Pensec, Rachel Salazar, Cara Yochai, Rafael Rodrigues-Torres, Manroop Chawla, John Day, Shannon Beres, Richard Gee, Sally Dunaway Young, Richard Finkel, Aledie Navas Nazario, Airaj Fasiuddin, Julie A. Wells, Jennifer Wilson, Debbie Berry, Virgina Rizzo, Julie Duke, Migvis Monduy, Jorge Collado, and Neurology and Therapy, 2023
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, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Noemi Brolatti, Irene Mizzoni, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Francesca Salmin, Roberto De Sanctis, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Federica Ricci, Ilaria Cavallina, Riccardo Masson, Riccardo Zanin, Caterina Agosto, Eleonora Salomon, Irene Bruno, Andrea Magnolato, Enrico Bertini, Francesco Danilo Tiziano, Francesca Bovis, Eugenio Mercuri, and European Journal of Neurology, 2023
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, Giovanni Baranello, Robert Muni Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D’Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M. Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W. Day, Basil T. Darras, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni Journal of Clinical Medicine, 2023
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1-Related Myopathies Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Filosto, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli Genes, 2023
Long term follow-up in two siblings with Sengers syndrome: Case report Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno Italian Journal of Pediatrics, 2022
Long term follow-up of scoliosis progression in type II SMA patients Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Claudio Bruno, Francesca Bovis, Consolato Gullì, Noemi Brolatti, Marina Pedemonte, Massimo Apicella, Laura Antonaci, Martina Ricci, Anna Capasso, Gianpaolo Cicala, Costanza Cutrona, Roberto de Sanctis, Sara Carnicella, Nicola Forcina, Michela Catteruccia, Maria Beatrice Damasio, Luca Labianca, Antonio Leone, Enrico Bertini, Marika Pane, Eugenio Mercuri Neuromuscular Disorders, 2022
The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment Chiara Fiorillo, Giovanna Capodivento, Alessandro Geroldi, Stefano Tozza, Isabella Moroni, Payam Mohassel, Matteo Cataldi, Chiara Campana, Simone Morando, Chiara Panicucci, Marina Pedemonte, Noemi Brolatti, Sabrina Siliquini, Monica Traverso, Serena Baratto, Doriana Debellis, Stefania Magri, Valeria Prada, Emilia Bellone, Vincenzo Salpietro, Sandra Donkervoort, Kenneth Gable, Sita D. Gupta, Teresa M. Dunn, Carsten G. Bönnemann, Franco Taroni, Claudio Bruno, Angelo Schenone, Paola Mandich, Lucilla Nobbio, Maria Nolano Neuropathology and Applied Neurobiology, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro Acta Neuropathologica Communications, 2022
Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco, Basil T. Darras, Katia Alberti, Giovanni Baranello, Nina Barisic, Noemi Brolatti, Claudio Bruno, Claude Cances, Giacomo Pietro Comi, Basil T. Darras, Nicolas Deconinck, Elke Vos, Liesbeth De Waele, Angela Dodman, Claudia Dosi, Muna El-Khairi, Amanda Engelbrekt, Nathalie Goemans, Ksenija Gorni, Alessandra Govoni, Isaac Gravestock, Kazuhiro Haginoya, Janine Hoffart, Katarzyna Kotulska-Jozwiak, Laure Le Goff, Alexis Levine, Saidi Manel, Riccardo Masson, Chiara Mastella, Eleonora Mauri, Maria Mazurkiewicz-Bełdzińska, Megi Meneri, Isabella Moroni, Katarzyna Pierzchlewicz, Aurelie Portefaix, Alexandra Prufer, Myriam Rauso, Kayoko Saito, Renata S. Scalco, Veronica Schembri, Mariangela Sicolo, Valentine Tahon, Josipa Tomas, Dominique Vincent-Genod, Dmitry Vlodavets, Carole Vuillerot, Kazuyuki Yotsumata, Edmar Zanoteli, and Orphanet Journal of Rare Diseases, 2022
Emergencies cards for neuromuscular disorders 1stConsensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report F. Racca, V. Sansone, F. Ricci, M. Filosto, S. Pedroni, E. Mazzone, Y. Longhitano, C. Zanza, A. Ardissone, R. Adorisio, A. Berardinelli, C. Bondone, C. Briani, F. Cairello, E. Carraro, G. Comi, G. Crescimanno, A. D’Amico, Fabio Deiaco, A. Fabiano, F. Franceschi, Michelangelo Mancuso, A. Massè, S. Messina, T. Mongini, I. Moroni, A. Moscatelli, O. Musumeci, P. Navalesi, G. Nigro, C. Origo, C. Panicucci, M. Pane, M. Pavone, M. Pedemonte, E. Pegoraro, M. Piastra, A. Pini, L. Politano, S. Previtali, F. Rao, G. Ricci, A. Toscano, A. Wolfler, Khristian Zoccola, C. Sancricca, V. Nigro, A. Trabacca, A. Vianello, Claudio Bruno Acta Myologica, 2022
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, Laurent Servais, Hui Xiong, Edmar Zanoteli, Giovanni Baranello, Claudio Bruno, John W Day, Nicolas Deconinck, Andrea Klein, Eugenio Mercuri, Dmitry Vlodavets, Yi Wang, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Birgit Jaber, Heidemarie Kletzl, Eleni Gaki, Paulo Fontoura, Basil T Darras, Joseph J Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Marianne Gerber, Omar Khwaja, Renata S Scalco, Timothy Seabrook, Armin Koch, Irina Balikova, Inge Joniau, Geraldine Accou, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Rodrigo de Holanda Mendonça, Ciro Matsui Jr, Ana Letícia Fornazieri Darcie, Cleide Machado, Maria Kiyoko Oyamada, Joyce Martini, Graziela Polido, Juliana Rodrigues Iannicelli, Juliana Caires de Oliveira Achili Ferreira, Chaoping Hu, Xiaomei Zhu, Chen Qian, Li Shen, Hui Li, Yiyun Shi, Shuizhen Zhou, Ying Xiao, Zhenxuan Zhou, Sujuan Wang, Tian Sang, Cuijie Wei, Hui Dong, Yiwen Cao, Jing Wen, Wenzhu Li, Lun Qin, Nina Barisic, Ivan Celovec, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Josipa Tomas, Odile Boespflug-Tanguy, Silvana De Lucia, Andrea Seferian, Emmanuel Barreau, Nabila Mnafek, Helene Peche, Allison Grange, Diem Trang Nguyen, Darko Milascevic, Shotaro Tachibana, Emanuela Pagliano, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Claudia Dosi, Riccardo Zanin, Veronica Schembri, Noemi Brolatti, Giuseppe Rao, Elisa Tassara, Simone Morando, Paola Tacchetti, Marina Pedemonte, Enrico Priolo, Lorenza Sposetti, Giacomo Pietro Comi, Alessandra Govoni, Silvia Gabriella Osnaghi, Valeria Minorini, Francesca Abbati, Federica Fassini, Michaela Foa, Amalia Lopopolo, Marika Pane, Concetta Palermo, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Guglielmo D'Amico, Lorenzo Orazi, Giorgia Coratti, Daniela Leone, Antonaci Laura, Roberto De Sanctis, Beatrice Berti, Naoki Kimura, Yasuhiro Takeshima, Hideki Shimomura, Tomoko Lee, Fumi Gomi, Takanobu Morimatsu, Toru Furukawa, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Sandra Modrzejewska, Anna Lemska, Evgenia Melnik, Svetlana Artemyeva, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Elena Litvinova, Cornelia Enzmann, Elea Galiart, Konstantin Gugleta, Christine Wondrusch Haschke, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugrul, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Seher Sari, Neslihan Bilgin, Aynur Ayse Karaduman, Fatma Gokcem Yildiz Sarikaya, Robert J Graham, Partha Ghosh, David Casavant, Alexis Levine, Rachael Titus, Amanda Engelbrekt, Lucia Ambrosio, Anne Fulton, Anna Maria Baglieri, Courtney Dias, Elizabeth Maczek, Amy Pasternak, Shannon Beres, Tina Duong, Richard Gee, Sally Young Lancet Neurology, 2022
Genetic modifiers of upper limb function in Duchenne muscular dystrophy Daniele Sabbatini, Aurora Fusto, Sara Vianello, Matteo Villa, Joanna Janik, Grazia D’Angelo, Eleonora Diella, Francesca Magri, Giacomo P. Comi, Chiara Panicucci, Claudio Bruno, Adele D’Amico, Enrico Bertini, Guja Astrea, Roberta Battini, Luisa Politano, Riccardo Masson, Giovanni Baranello, Stefano C. Previtali, Sonia Messina, Gianluca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish-Dressman, Tina Duong, Craig M. McDonald, Luca Bello, Elena Pegoraro Journal of Neurology, 2022
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy Giorgia Coratti, Jacopo Lenkowicz, Giulia Norcia, Simona Lucibello, Elisabetta Ferraroli, Adele d’Amico, Luca Bello, Elena Pegoraro, Sonia Messina, Federica Ricci, Tiziana Mongini, Angela Berardinelli, Riccardo Masson, Stefano C. Previtali, Grazia D’angelo, Francesca Magri, Giacomo P. Comi, Luisa Politano, Luigia Passamano, Gianluca Vita, Valeria A. Sansone, Emilio Albamonte, Chiara Panicucci, Claudio Bruno, Antonella Pini, Enrico Bertini, Stefano Patarnello, Marika Pane, Eugenio Mercuri, and Plos One, 2022
Body mass index in type 2 spinal muscular atrophy: a longitudinal study Gloria Ferrantini, Giorgia Coratti, Roberta Onesimo, Simona Lucibello, Sarah Bompard, Ida Turrini, Graziamaria Cicala, Michela Caprarelli, Maria Carmela Pera, Chiara Bravetti, Beatrice Berti, Valentina Giorgio, Claudio Bruno, Noemi Brolatti, Chiara Panicucci, Adele D’Amico, Antonella Longo, Chiara Leoni, Valeria A. Sansone, Emilio Albamonte, Sonia Messina, Maria Sframeli, Enrico Bertini, Marika Pane, Eugenio Mercuri, and European Journal of Pediatrics, 2022
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, Adele d'Amico, Claudio Bruno, Francesca Salmin, Emilio Albamonte, Roberto De Sanctis, Maria Sframeli, Vincenzo Di Bella, Simone Morando, Concetta Palermo, Anna Lia Frongia, Laura Antonaci, Anna Capasso, Michela Catteruccia, Antonella Longo, Martina Ricci, Costanza Cutrona, Alice Pirola, Chiara Bravetti, Marina Pedemonte, Noemi Brolatti, Enrico Bertini, Eugenio Mercuri, and Annals of Clinical and Translational Neurology, 2022
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy Jorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, Chiara Panicucci, Afagh Alavi, Shahriar Nafissi, Yalda Nilipour, Edmar Zanoteli, Lucas Michielon de Augusto Isihi, Béla Melegh, Kinga Hadzsiev, Nuria Muelas, Juan J Vílchez, Mario Emilio Dourado, Naz Kadem, Gultekin Kutluk, Muhammad Umair, Muhammad Younus, Elena Pegorano, Luca Bello, Thomas O Crawford, Xavier Suárez-Calvet, Ana Töpf, Michela Guglieri, Chiara Marini-Bettolo, Pia Gallano, Volker Straub, Jordi Díaz-Manera Brain, 2022
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia Chiara Gemelli, Monica Traverso, Lucia Trevisan, Sabrina Fabbri, Elena Scarsi, Barbara Carlini, Valeria Prada, Tiziana Mongini, Lucia Ruggiero, Serena Patrone, Salvatore Gallone, Rosa Iodice, Livia Pisciotta, Federico Zara, Paola Origone, Eugenia Rota, Carlo Minetti, Claudio Bruno, Angelo Schenone, Paola Mandich, Chiara Fiorillo, Marina Grandis Muscle and Nerve, 2022
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, Francesca Bovis, Maria Sframeli, Adele D'Amico, Marika Pane, Emilio Albamonte, Laura Antonaci, Anna Lia Frongia, Irene Mizzoni, Valeria A Sansone, Massimo Russo, Claudio Bruno, Giovanni Baranello, Sonia Messina, Sally Dunaway Young, Allan M Glanzman, Tina Duong, Roberto de Sanctis, Elena Stacy Mazzone, Evelin Milev, Annemarie Rohwer, Matthew Civitello, Basil T Darras, Enrico Bertini, John Day, Francesco Muntoni, Darryl C. De Vivo, Richard S Finkel, Eugenio Mercuri Neuromuscular Disorders, 2022
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, Kayoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Laurent Servais, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S Scalco, Hannah Staunton, Wai Yin Yeung, Carmen Martin, Paulo Fontoura, John W Day, Joseph J. Volpe, John Posner, Ulrich Kellner, Rosaline Quinlivan, Aurore Daron, Stéphanie Delstanche, Romain Bruninx, Fabian Dal Farra, Olivier Schneider, Nicolas Deconinck, Irina Balikova, Patricia Delbeke, Inge Joniau, Valentine Tahon, Sylvia Wittevrongel, Elke De Vos, Nathalie Goemans, Ingele Casteels, Liesbeth De Waele, Irina Balikova, Catherine Cassiman, Lies Prové, David Kinoo, Lisa Vancampenhout, Marleen Van Den Hauwe, Annelies Van Impe, Alexandra Prufer de Queiroz Campos Araujo, Aline Chacon Pereira, Flávia Nardes, Lorena Haefeli, Julia Rossetto, Marcos Ferreira Rebel, Jaqueline Almeida Pereira, Craig Campbell, Sapna Sharan, Wendy McDonald, Cheryl Scholtes, Jean Mah, Maria Sframeli, Angela Chiu, Jane Hagel, Maryam Oskoui, Raquel Beneish, Gaela Cariou-Palmer, Connie Pham, Daniela Toffoli, Stephanie Arpin, Sarah Turgeon Desilets, Yi Wang, Chaoping Hu, Jianfeng Huan, Chen Qian, Li Shen, Ying Xiao, Zhenxuan Zhou, Hui Li, Sujuan Wang, Hui Xiong, Xingzhi Chang, Hui Dong, Ying Liu, Tian Sang, Cuijie Wei, Jing Wen, Yiwen Cao, Xingyao Ly, Jing Wen, Jingjing Zhao, Wenzhu Li, Lun Qin, Nina Barisic, Martina Galiot Delic, Petra Kristina Ivkic, Nenad Vukojevic, Ivana Kern, Boris Najdanovic, Marin Skugor, Laurent Servais, Odile Boespflug-Tanguy, Teresa Gidaro, Andreea Seferian, Silvana De Lucia, Emmanuel Barreau, Nabila Mnafek, Marta Milkova Momtchilova, Helene Peche, Carole Valherie, Allison Grange, Charlotte Lilien, Darko Milascevic, Shotaro Tachibana, Claudia Ravelli, Ruxandra Cardas, Jessica Taytard, Guillaume Aubertin, Laure Vanden Brande, Jean-Baptiste Davion, Stephanie Coopman, Ikram Bouacha, Philippe Debruyne, Sabine Defoort, Gilles Derlyn, Florian Leroy, Loïc Danjoux, Julie Guilbaud, Isabelle Desguerre, Christine Barnérias, Michaela Semeraro, Dominique Bremond-Gignac, Lenaic Bruere, Maxence Rateaux, Élodie Deladrière, Virginie Germa, Yann Pereon, Sandra Mercie, Fanny Billaud, Lucie Le Goff, Guy Letellier, Carole Vuillerot, Aurélie Portefaix, Camille De-Montferrand, Laure Le-Goff, Stephanie Fontaine, Manel Saidi, Nabil Bouzid, Aurélie Barriere, Marie Tinat, Janbernd Kirschner, Michelle Dreesbach, Wolf Lagréze, Bettina Michaelis, Fanni Molnar, Dorina Seger, Sibylle Vogt, Enrico Bertini, Adele D'Amico, Sergio Petroni, Anna Maria Bonetti, Adelina Carlesi, Irene Mizzoni, Claudio Bruno, Enrico Priolo, Giuseppe Rao, Simone Morando, Paola Tacchetti, Ambra Zuffi, Giacomo Pietro Comi, Roberta Brusa, Stefania Corti, Velardo Daniele, Alessandra Govoni, Francesca Magri, Valeria Minorini, Silvia Gabriella Osnaghi, Francesca Abbati, Federica Fassini, Michaela Foa, Amaqlia Lopopolo, Megi Meneri, Francesca Zoppas, Valeria Parente, Giovanni Baranello, Riccardo Masson, Stefania Bianchi Marzoli, Diletta Santarsiero, Myriam Garcia Sierra, Gemma Tremolada, Maria Teresa Arnoldi, Marta Vigano, Riccardo Zanin, Eugenio Mercuri, Laura Antonaci, Roberto de Sanctis, Marika Pane, Maria Carmela Pera, Giulia Maria Amorelli, Costanza Barresi, Gugliemo D'Amico, Lorenzo Orazi, Giorgia Coratti, Kazuhiro Haginoya, Atsuko Kato, Yuko Morishita, Ryutaro Kira, Kiyomu Akiyama, Miwako Goto, Yujiro Mori, Misato Okamoto, Saki Tsutsui, Yuta Takatsuji, Aya Tanaka, Hirofumi Komaki, Miina Omori, Ippei Suzuki, Mizuki Takeuchi, Daisuke Todoroki, Seji Watanabe, Tomoko Matsubayashi, Emi Inakazu, Hiroe Nagura, Akira Suzuki, Manami Usui, Nobutsune Ishikawa, Yousuke Harada, Kenishi Fudeyasu, Kazuhiko Hirata, Kana Michiue, Kazuyuki Ueda, Kayoko Saito, Junko Fujitani, Reiko Arakawa, Kozue Takano, Shigeko Yashiro, Maiko Seki, Nozomi Sano, Koji Fukuyama, Yuki Matsumoto, Hirofumi Miyazaki, Minoru Shibata, Kyoko Kobayashi, Yukie Nakamura, Yasuhiro Takeshima, Moe Kuma, Anna Kostera-Pruszczyk, Anna Fraczek, Maria Jedrzejowska, Anna Lusakowska, Agnieszka Czeszyk-Piotrowicz, Wojciech Hautz, Klaudia Rakusiewicz, Malgorzata Burlewicz, Zuzanna Gierlak-Wojcicka, Malwina Kepa, Adam Sikorski, Marcin Sobieraj, Maria Mazurkiewicz-Beldzinska, Anna Lemska, Sandra Modrzejewska, Mateusz Koberda, Urszula Stodolska-Koberda, Agnieszka Waskowska, Jagoda Kolendo, Agnieszka Sobierajska-Rek, Barbara Steinborn, Magdalena Dalz, Julia Grabowska, Wojciech Hajduk, Justyna Janasiewicz-Karachitos, Monika Klimas, Marcin Stopa, Ewa Gajewska, Beata Pusz, Dmitry Vlodavets, Evgenia Melnik, Natalya Leppenen, Nataliya Yupatova, Anastasya Monakhova, Yulia Papina, Olga Shidlovsckaia, Vedrana Milic Rasic, Vesna Brankovic, Ana Kosac, Olivera Djokic, Vesna Jakšic, Ana Pepic, Jelena Martinovic, Francina Munell Casadesus, Eduardo Tizzano, Nieves Martín Begué, Charlotte Wolley Dod, Olaia Subira, Bernat Planas Pascual, Esther Toro Tamargo, Marcos Madruga Garrido, José David Medina Romero, Marta Peña Salinas, Andrés Nascimento Osorio, Ana Díaz Cortés, Enrique Jiménez Gañan, Simone Dowon Suh, Julita Medina Cantillo, Obdulia Moya, Nuria Padros, Sandra Roca Urraca, Hugo Gonzalez Valdivia, Samuel Pascual Pascual, Sofía de Manuel, Susana Noval Martin, Paul Burnham, Sandra Espinosa, Mercedes Martinez Moreno, Haluk Topaloglu, Ibrahim Oncel, Nesibe Eroglu Ertugru, Bahadir Konuskan, Bora Eldem, Sibel Kadayifçilar, Ipek Alemdaroglu, Aynur Ayse Karaduman, Oznur Tunca Yilmaz, Neslihan Bilgin, Seher Sari, Claudia Chiriboga, John J. Lee, Donnielle Rome-Martin, John W. Day, Shannon Beres, Tina Duong, Richard Gee, Sally Dunaway Young, Sabine Fuerst-Recktenwald, Anne Marquet, Nicoletta Muelhardt, Dylan Trundell Lancet Neurology, 2022
Growth patterns in children with spinal muscular atrophy Ramona De Amicis, Giovanni Baranello, Andrea Foppiani, Alessandro Leone, Alberto Battezzati, Giorgio Bedogni, Simone Ravella, Ester Giaquinto, Chiara Mastella, Caterina Agosto, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Jonathan C. Wells, Mary Fewtrell, Simona Bertoli Orphanet Journal of Rare Diseases, 2021
Muscle inflammatory pattern in alpha- and gamma-sarcoglycanopathies Chiara Panicucci, Serena Baratto, Lizzia Raffaghello, Paola Tonin, Adele D’Amico, Giorgio Tasca, Monica Traverso, Chiara Fiorillo, Carlo Minetti, Stefano Carlo Previtali, Elena Pegoraro, Claudio Bruno Clinical Neuropathology, 2021
Different trajectories in upper limb and gross motor function in spinal muscular atrophy Giorgia Coratti, Maria Carmela Pera, Jacqueline Montes, Amy Pasternak, Mariacristina Scoto, Giovanni Baranello, Sonia Messina, Sally Dunaway Young, Allan M. Glanzman, Tina Duong, Roberto De Sanctis, Elena Stacy Mazzone, Evelin Milev, Annemarie Rohwer, Matthew Civitello, Marika Pane, Laura Antonaci, Anna Lia Frongia, Maria Sframeli, Gian Luca Vita, Adele DʼAmico, Irene Mizzoni, Emilio Albamonte, Basil T. Darras, Enrico Bertini, Valeria A. Sansone, Francesca Bovis, John Day, Claudio Bruno, Francesco Muntoni, Darryl C. De Vivo, Richard Finkel, Eugenio Mercuri Muscle and Nerve, 2021
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial Eugenio Mercuri, Francesco Muntoni, Giovanni Baranello, Riccardo Masson, Odile Boespflug-Tanguy, Claudio Bruno, Stefania Corti, Aurore Daron, Nicolas Deconinck, Laurent Servais, Volker Straub, Haojun Ouyang, Deepa Chand, Sitra Tauscher-Wisniewski, Nuno Mendonca, Arseniy Lavrov, A. Seferian, S. De Lucia, S. Tachibana, A. Jollet, S. Mouffak, M. Pedemonte, N. Brolatti, S. Morando, A. Vanlander, E. De Vos, V. Tahon, A. Govoni, F. Magri, G. Comi, M. Foa, V. Parente, L. Buscemi, F. Dal Farra, O. Schneider, A. Jonas, A.C. Defeldre, E. Pagliano, R. Zanin, M.T. Arnoldi, V. Schembri, M. Del Sole, A. Mandelli, M.C. Pera, L. Antonaci, G. Coratti, R. de Sanctis, M. Pane, M. Scoto, K. Groves, L. Edel, F. Abel, H. Van Ruiten, R.M. Lofra, E. Thompson Lancet Neurology, 2021
SMA-miRs (MiR-181a- 5p, -324-5p, and -451a) are overexpressed in spinal muscular atrophy skeletal muscle and serum samples Emanuela Abiusi, Paola Infante, Cinzia Cagnoli, Ludovica Lospinoso Severini, Marika Pane, Giorgia Coratti, Maria Carmela Pera, Adele D'Amico, Federica Diano, Agnese Novelli, Serena Spartano, Stefania Fiori, Giovanni Baranello, Isabella Moroni, Marina Mora, Maria Barbara Pasanisi, Krizia Pocino, Loredana Le Pera, Davide D'Amico, Lorena Travaglini, Francesco Ria, Claudio Bruno, Denise Locatelli, Enrico Silvio Bertini, Lucia Ovidia Morandi, Eugenio Mercuri, Lucia Di Marcotullio, Francesco Danilo Tiziano Elife, 2021
The diagnostic approach to mitochondrial disorders in children in the era of next-generation sequencing: A 4-year cohort study Deborah Tolomeo, Daniele Orsucci, Claudia Nesti, Jacopo Baldacci, Roberta Battini, Claudio Bruno, Giorgia Bruno, Denise Cassandrini, Stefano Doccini, M. Alice Donati, Annarita Ferrari, Simona Fiori, Chiara Fiorillo, Renzo Guerrini, Francesco Mari, Martino Montomoli, Francesca Pochiero, Elena Procopio, Lucia Ruggiero, Simone Sampaolo, Federico Sicca, Chiara Ticci, Anna Rubegni, Filippo M. Santorelli Journal of Clinical Medicine, 2021
Nusinersen in pediatric and adult patients with type III spinal muscular atrophy Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group Annals of Clinical and Translational Neurology, 2021
Risdiplam-treated infants with type 1 spinal muscular atrophy versus historical controls Basil T. Darras, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kristy Rose, Hui Xiong, Edmar Zanoteli, Giovanni Baranello, Claudio Bruno, Dmitry Vlodavets, Yi Wang, Muna El-Khairi, Marianne Gerber, Ksenija Gorni, Omar Khwaja, Heidemarie Kletzl, Renata S. Scalco, Paulo Fontoura, Laurent Servais New England Journal of Medicine, 2021
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, Jacqueline Montes, Valeria A Sansone, Tina Duong, Sally Dunaway Young, Sonia Messina, Adele D'Amico, Matthew Civitello, Allan M Glanzman, Claudio Bruno, Francesca Salmin, Paola Tacchetti, Sara Carnicella, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Darryl C. De Vivo, Basil T. Darras, John Day, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri Neuromuscular Disorders, 2021
Rebalancing expression of HMGB1 redox isoforms to counteract muscular dystrophy Giorgia Careccia, Marielle Saclier, Mario Tirone, Elena Ruggieri, Elisa Principi, Lizzia Raffaghello, Silvia Torchio, Deborah Recchia, Monica Canepari, Andrea Gorzanelli, Michele Ferrara, Patrizia Castellani, Anna Rubartelli, Patrizia Rovere-Querini, Maura Casalgrandi, Alessandro Preti, Isabella Lorenzetti, Claudio Bruno, Roberto Bottinelli, Silvia Brunelli, Stefano Carlo Previtali, Marco Emilio Bianchi, Graziella Messina, Emilie Vénéreau Science Translational Medicine, 2021
The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy Claudia Brogna, Giorgia Coratti, Rachele Rossi, Marcella Neri, Sonia Messina, Adele D’ Amico, Claudio Bruno, Simona Lucibello, Gianluca Vita, Angela Berardinelli, Francesca Magri, Federica Ricci, Marina Pedemonte, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Luisa Politano, Giacomo P. Comi, Valeria A Sansone, Emilio Albamonte, Alice Donati, Enrico Bertini, Nathalie Goemans, Stefano Previtali, Francesca Bovis, Marika Pane, Alessandra Ferlini, Eugenio Mercuri Neuromuscular Disorders, 2021
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, Adele D’Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria A. Sansone, Alice Donati, Jean Yves Hogrel, Volker Straub, Silvana De Lucia, Erik Niks, Laurent Servais, Imelda De Groot, Mary Chesshyre, Enrico Bertini, Nathalie Goemans, Francesco Muntoni, Eugenio Mercuri, and Plos One, 2021
Movement disorders in children with a mitochondrial disease: A cross-sectional survey from the nationwide italian collaborative network of mitochondrial diseases Chiara Ticci, Daniele Orsucci, Anna Ardissone, Luca Bello, Enrico Bertini, Irene Bonato, Claudio Bruno, Valerio Carelli, Daria Diodato, Stefano Doccini, Maria Alice Donati, Claudia Dosi, Massimiliano Filosto, Chiara Fiorillo, Chiara La Morgia, Costanza Lamperti, Silvia Marchet, Diego Martinelli, Carlo Minetti, Maurizio Moggio, Tiziana Enrica Mongini, Vincenzo Montano, Isabella Moroni, Olimpia Musumeci, Elia Pancheri, Elena Pegoraro, Guido Primiano, Elena Procopio, Anna Rubegni, Roberta Scalise, Monica Sciacco, Serenella Servidei, Gabriele Siciliano, Costanza Simoncini, Deborah Tolomeo, Paola Tonin, Antonio Toscano, Flavia Tubili, Michelangelo Mancuso, Roberta Battini, Filippo Maria Santorelli Journal of Clinical Medicine, 2021
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, Jacopo Casiraghi, Marika Pane, Maria Carmela Pera, Cristina Italiano, Sonia Messina, Susanna Pozzi, Maria Sframeli, Adele D'Amico, Enrico Bertini, Claudio Bruno, Luca Mauro, Francesca Salmin, Claudia Stancanelli, Marina Pedemonte, Emilio Albamonte, Christine Zizzi, Chad Heatwole, Eugenio Mercuri Neuromuscular Disorders, 2021
Type I SMA “new natural history”: long-term data in nusinersen-treated patients Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D’Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto De Sanctis, Simona Lucibello, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Enrico Bertini, Gianluca Vita, Francesco Danilo Tiziano, Eugenio Mercuri, and Annals of Clinical and Translational Neurology, 2021
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen V. A. Sansone, G. Coratti, M. C. Pera, M. Pane, S. Messina, F. Salmin, E. Albamonte, R. De Sanctis, M. Sframeli, V. Di Bella, S. Morando, A. d’Amico, A. L. Frongia, L. Antonaci, A. Pirola, M. Pedemonte, E. Bertini, C. Bruno, E. Mercuri, Alessandra Di Bari, Amelia Signorino, Antonella Longo, Paola Tacchetti, Noemi Brolatti, Diletta Rossi, Chiara Bravetti, Simona Lucibello, Lavinia Fanelli, Nicola Forcina, Giulia Norcia, Sara Carnicella, Katia Agata Patanella, Daniela Leone, Concetta Palermo, Beatrice Berti, Felice Catania, Andrea Colombo, Aurora Bozzardi, Gloria Ferrantini, Gianluca Vita, and European Journal of Neurology, 2021
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study Federica Trucco, Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion L. Main, Robert Muni Lofra, Anna G. Mayhew, Jacqueline Montes, Marika Pane, Valeria Sansone, Emilio Albamonte, Adele D'Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Deepak Parasuraman, Anne-Marie Childs, Vasantha Gowda, Tracey Willis, Min Ong, Chiara Marini-Bettolo, Darryl C. De Vivo, Basil T. Darras, John Day, Elizabeth A. Kichula, Oscar H. Mayer, Aledie A. Navas Nazario, Richard S. Finkel, Eugenio Mercuri, Francesco Muntoni, on behalf of the International SMA Consortium (iSMAc) Roberto De Sanctis PT Alice Pirola PT Antonella Longo MD Maria Sframeli MD, PhD Marina Pedemonte MD, PhD Lindsey Pallant PT Elizabeth Wraige MD Sarah Turner PT Kay White PT Allan M. Glanzman PT Matthew Civitello PT Angela Berardinelli MD PhD Giovanni Baranello MD, PhD Stefan Spinty MD Anirban Majumbdar MD Imelda Huges MD Deepa Krishnakumar MD Gabriel Chow MD Neil Thomas MD Sithara Ramdas MD Neurology, 2021
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) Tomàs Pinós, Antoni L. Andreu, Claudio Bruno, Georgios M. Hadjigeorgiou, Ronald G. Haller, Pascal Laforêt, Alejandro Lucía, Miguel A. Martín, Andrea Martinuzzi, Carmen Navarro, Piraye Oflazer, Jean Pouget, Ros Quinlivan, Sabrina Sacconi, Renata S. Scalco, Antonio Toscano, John Vissing, Matthias Vorgerd, Andrew Wakelin, Ramon Martí, Antoni L. Andreu, Ramon Martí, Tomàs Pinós, Noemi Baruch, Francisco J. Ortega, Miguel A. Martín, Carmen Navarro, Beatriz San-Millán, Irene Vieitez, Andrea Martinuzzi, Marinela Vavla, Claudio Bruno, Antonio Toscano, Olimpia Musumeci, Pascal Laforêt, Sabrina Sacconi, Ros Quinlivan, Renata Scalco, Andrew Wakelin, Georgios Hadjgeorgiou, Elias Zintzaras, John Vissing, Matthias Vorgerd, Enrico Zülow, Ronald Haller, Piraye Oflazer, Hacer Durmus, Jean Pouget, Alejandro Lucía, Alfredo Santalla, and Orphanet Journal of Rare Diseases, 2020
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) Renata S. Scalco, , Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Nicol C. Voermans, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San-Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebeca Trost, Sabrina Sacconi, Mads G. Stemmerik, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing Orphanet Journal of Rare Diseases, 2020
Clinical Variability in Spinal Muscular Atrophy Type III Giorgia Coratti, Sonia Messina, Simona Lucibello, Maria Carmela Pera, Jacqueline Montes, Amy Pasternak, Francesca Bovis, Jessica Exposito Escudero, Elena Stacy Mazzone, Anna Mayhew, Allan M. Glanzman, Sally Dunaway Young, Rachel Salazar, Tina Duong, Robert Muni Lofra, Roberto De Sanctis, Sara Carnicella, Evelin Milev, Matthew Civitello, Marika Pane, Mariacristina Scoto, Chiara Marini Bettolo, Laura Antonaci, Annalia Frongia, Maria Sframeli, Gian Luca Vita, Adele D'Amico, Marleen Van Den Hauwe, Emilio Albamonte, Nathalie Goemans, Basil T. Darras, Enrico Bertini, Valeria Sansone, John Day, Andres Nascimento Osorio, Claudio Bruno, Francesco Muntoni, Darryl C. De Vivo, Richard S. Finkel, Eugenio Mercuri Annals of Neurology, 2020
Genotype–phenotype correlations in recessive titinopathies Marco Savarese, Anna Vihola, Emily C. Oates, Rita Barresi, Chiara Fiorillo, Giorgio Tasca, Manu Jokela, Anna Sarkozy, Sushan Luo, Jordi Díaz-Manera, Christoffer Ehrstedt, Ricardo Rojas-García, Amets Sáenz, Nuria Muelas, Fortunato Lonardo, Heidi Fodstad, Talha Qureshi, Mridul Johari, Salla Välipakka, Helena Luque, Philippe Petiot, Adolfo López de Munain, Marika Pane, Eugenio Mercuri, Annalaura Torella, Vincenzo Nigro, Guja Astrea, Filippo Maria Santorelli, Claudio Bruno, Thierry Kuntzer, Isabel Illa, Juan J. Vílchez, Cedric Julien, Ana Ferreiro, Alessandro Malandrini, Chong-Bo Zhao, Olivera Casar-Borota, Mark Davis, Francesco Muntoni, Peter Hackman, Bjarne Udd Genetics in Medicine, 2020
Gain and loss of abilities in type II SMA: A 12-month natural history study Giorgia Coratti, Simona Lucibello, Maria C Pera, Tina Duong, Robert Muni Lofra, Matthew Civitello, Adele D'Amico, Nathalie Goemans, Basil T Darras, Claudio Bruno, Valeria A Sansone, John Day, Andres Nascimento Osorio, Francesco Muntoni, Jaccqueline Montes, Maria Sframeli, Richard Finkel, Eugenio Mercuri Neuromuscular Disorders, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy Jorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, Michela Guglieri, Volker Straub, Pia Gallano, Claudio Semplicini, Elena Pegoraro, Vittoria Zangaro, Andrés Nascimento, Carlos Ortez, Giacomo Pietro Comi, Leroy ten Dam, Marianne De Visser, A J van der Kooi, Cristina Garrido, Manuela Santos, Ulrike Schara, Andrea Gangfuß, Nicoline Løkken, Jesper Helbo Storgaard, John Vissing, Benedikt Schoser, Gabriele Dekomien, Bjarne Udd, Johanna Palmio, Adele D'Amico, Luisa Politano, Vincenzo Nigro, Claudio Bruno, Chiara Panicucci, Anna Sarkozy, Omar Abdel-Mannan, Alicia Alonso-Jimenez, Kristl G Claeys, David Gomez-Andrés, Francina Munell, Laura Costa-Comellas, Jana Haberlová, Marie Rohlenová, De Vos Elke, Jan L De Bleecker, Cristina Dominguez-González, Giorgio Tasca, Claudia Weiss, Nicolas Deconinck, Roberto Fernández-Torrón, Adolfo López de Munain, Ana Camacho-Salas, Béla Melegh, Kinga Hadzsiev, Lea Leonardis, Blaz Koritnik, Matteo Garibaldi, Juan Carlos de Leon-Hernández, Edoardo Malfatti, Arturo Fraga-Bau, Isabelle Richard, Isabel Illa, Jordi Díaz-Manera Brain, 2020
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients Lorenzo Maggi, Raffaella Brugnoni, Eleonora Canioni, Paola Tonin, Veronica Saletti, Patrizia Sola, Stefano Cotti Piccinelli, Lara Colleoni, Paola Ferrigno, Antonella Pini, Riccardo Masson, Fiore Manganelli, Daniele Lietti, Liliana Vercelli, Giulia Ricci, Claudio Bruno, Giorgio Tasca, Antonio Pizzuti, Alessandro Padovani, Carlo Fusco, Elena Pegoraro, Lucia Ruggiero, Sabrina Ravaglia, Gabriele Siciliano, Lucia Morandi, Raffaele Dubbioso, Tiziana Mongini, Massimiliano Filosto, Irene Tramacere, Renato Mantegazza, Pia Bernasconi Frontiers in Neurology, 2020
Predictive energy equations for spinal muscular atrophy type i children Simona Bertoli, Ramona De Amicis, Giorgio Bedogni, Andrea Foppiani, Alessandro Leone, Simone Ravella, Chiara Mastella, Giovanni Baranello, Riccardo Masson, Enrico Bertini, Adele D’Amico, Marina Pedemonte, Claudio Bruno, Caterina Agosto, Ester Giaquinto, Michela Bassano, Alberto Battezzati American Journal of Clinical Nutrition, 2020
Genetic modifiers of respiratory function in Duchenne muscular dystrophy Luca Bello, Grazia D’Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo P. Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D’Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A. Sansone, Stefano Previtali, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P. Hoffman, Lauren Morgenroth, Heather Gordish‐Dressman, Craig M. McDonald, CINRG‐DNHS Investigators, Elena Pegoraro Annals of Clinical and Translational Neurology, 2020
Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen Valeria A. Sansone, Alice Pirola, Emilio Albamonte, Marika Pane, Andrea Lizio, Adele D'Amico, Michela Catteruccia, Renato Cutrera, Claudio Bruno, Marina Pedemonte, Sonia Messina, Fabrizio Rao, Elisabetta Roma, Francesca Salmin, Giorgia Coratti, Alessandra Di Bari, Roberto De Sanctis, Maria Carmela Pera, Maria Sframeli, Marco Piastra, Francesco Macagno, Giuseppe Vita, Enrico Bertini, Eugenio Mercuri Journal of Pediatrics, 2020
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini Frontiers in Genetics, 2020
Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey? Maria Carmela Pera, Giorgia Coratti, Beatrice Berti, Adele D’Amico, Maria Sframeli, Emilio Albamonte, Roberto de Sanctis, Sonia Messina, Michela Catteruccia, Giorgia Brigati, Laura Antonaci, Simona Lucibello, Claudio Bruno, Valeria A. Sansone, Enrico Bertini, Danilo Tiziano, Marika Pane, Eugenio Mercuri Plos One, 2020
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders Vincenzo Salpietro, , Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden Nature Communications, 2019
Development of an academic disease registry for spinal muscular atrophy Eugenio Mercuri, Richard Finkel, MariaCristina Scoto, Susan Hall, Susan Eaton, Aisha Rashid, Julia Balashkina, Giorgia Coratti, Maria Carmela Pera, Salma Samsuddin, Matthew Civitello, Francesco Muntoni, Darryl C De Vivo, Basil T Darras, John Day, Jacqueline Montes, Allan Glanzmann, Amy Pasternack, Rachel Salazar, Sally Dunaway Young, Tina Duong, Marika Pane, Beatrice Berti, Concetta Palermo, Daniela Leone, Annalia Frongia, Laura Antonaci, Roberto De Sanctis, Sonia Messina, Enrico Bertini, Giuseppe Vita, Claudio Bruno, Maria Sframeli, Valeria A Sansone, Emilio Albamonte, Adele D'Amico Neuromuscular Disorders, 2019
Towards regulatory endorsement of drug development tools to promote the application of model-informed drug development in Duchenne muscular dystrophy the Duchenne Muscular Dystrophy Regulatory Science Consortium (D-RSC), Daniela J. Conrado, Jane Larkindale, Alexander Berg, Micki Hill, Jackson Burton, Keith R. Abrams, Richard T. Abresch, Abby Bronson, Douglass Chapman, Michael Crowther, Tina Duong, Heather Gordish-Dressman, Lutz Harnisch, Erik Henricson, Sarah Kim, Craig M. McDonald, Stephan Schmidt, Camille Vong, Xiaoxing Wang, Brenda L. Wong, Florence Yong, Klaus Romero Journal of Pharmacokinetics and Pharmacodynamics, 2019
Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data Marika Pane, Giorgia Coratti, Valeria A. Sansone, Sonia Messina, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto de Sanctis, Simona Lucibello, Marco Piastra, Orazio Genovese, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri, on behalf of the Italian Expanded Access Program Working Group Annals of Neurology, 2019
Novel TRIM32 mutation in sarcotubular myopathy Acta Myologica, 2019
Copy number variants account for a tiny fraction of undiagnosed myopathic patients Teresa Giugliano, Marco Savarese, Arcomaria Garofalo, Esther Picillo, Chiara Fiorillo, Adele D’Amico, Lorenzo Maggi, Lucia Ruggiero, Liliana Vercelli, Francesca Magri, Fabiana Fattori, Annalaura Torella, Manuela Ergoli, Anna Rubegni, Marina Fanin, Olimpia Musumeci, Jan Bleecker, Lorenzo Peverelli, Maurizio Moggio, Eugenio Mercuri, Antonio Toscano, Marina Mora, Lucio Santoro, Tiziana Mongini, Enrico Bertini, Claudio Bruno, Carlo Minetti, Giacomo Comi, Filippo Santorelli, Corrado Angelini, Luisa Politano, Giulio Piluso, Vincenzo Nigro Genes, 2018
An observational study of functional abilities in infants, children, and adults with type 1 SMA Marika Pane, Concetta Palermo, Sonia Messina, Valeria A. Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto de Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri, on behalf of the Italian EAP Working Group, Italian EAP Working Group, Daniela Leone, Gloria Ferrantini, Beatrice Berti, Maria Carmela Pera, Nicola Forcina, Sara Carnicella, Giulia Norcia, Marco Piastra, Orazio Genovese, Alessandro Pedicelli, Paola Cimbolli, Antonio Versaci, Imma Rulli, Eloisa Gitto, Cristina Faraone, Stefania La Foresta, Maria Macrì, Giulia Colia, Anna Maria Bonetti, Adelina Carlesi, Renato Cutrera, Maria Beatrice Chiarini, Marta Ferretti, Alberto Garaventa, Giovanni Montobbio, Carlo Gandolfo, Valentina Iurilli, Paola Tacchetti, Emilia Bobeica, Valentina Lanzillotta, Alice Pirola, Sara Lupone, Elisa De Mattia, Elisa Falcier, Fabrizio Rao, Elisabetta Roma, Caterina Conti, Francesca Salmin, Cristina Grandi, Fausto Fedeli, Luca Mancini, Nicola Tovaglieri, Paolo Stoia, Maurizio Heinen, Valeria Cozzi, Beatrice Travaglia, Emma Mizzotti, Daniela Lauro, Luca Binetti, Anita Pallara, Simona Spinoglio, Maria Letizia Solinas, Grazia Zappa, Francesca Penno, Cristina Ponzanelli, Jacopo Casiraghi Neurology, 2018
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, Adele D’Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C. Previtali, Luisa Politano, Giacomo P. Comi, Valeria A. Sansone, Alice Donati, Enrico Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, on behalf on the International DMD group Plos One, 2018
Nusinersen in type 1 SMA infants, children and young adults: Preliminary results on motor function Marika Pane, Concetta Palermo, Sonia Messina, Valeria A Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto de Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri Neuromuscular Disorders, 2018
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease Marco Savarese, Annalaura Torella, Olimpia Musumeci, Corrado Angelini, Guja Astrea, Luca Bello, Claudio Bruno, Giacomo Pietro Comi, Giuseppina Di Fruscio, Giulio Piluso, Giuseppe Di Iorio, Manuela Ergoli, Gaia Esposito, Marina Fanin, Olimpia Farina, Chiara Fiorillo, Arcomaria Garofalo, Teresa Giugliano, Francesca Magri, Carlo Minetti, Maurizio Moggio, Luigia Passamano, Elena Pegoraro, Ester Picillo, Simone Sampaolo, Filippo Maria Santorelli, Claudio Semplicini, Bjarne Udd, Antonio Toscano, Luisa Politano, Vincenzo Nigro Neuromuscular Disorders, 2018
Clinical and molecular consequences of exon 78 deletion in DMD gene Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte, Maria Cristina Diana, Marta Ferretti, Paolo Broda, Carlo Minetti, Elisabetta Gazzerro, Francesca Madia, Claudio Bruno, Federico Zara, Chiara Fiorillo Journal of Human Genetics, 2018
Expanding the histopathological spectrum of CFL2-related myopathies F. Fattori, C. Fiorillo, C. Rodolico, G. Tasca, M. Verardo, E. Bellacchio, S. Pizzi, A. Ciolfi, G. Fagiolari, A. Lupica, P. Broda, M. Pedemonte, M. Moggio, C. Bruno, M. Tartaglia, E. Bertini, A. D'Amico Clinical Genetics, 2018
Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D’Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D’Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri Plos One, 2018
Interpreting genetic variants in titin in patients with muscle disorders Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, Sandra Janssens, Maria Barbara Pasanisi, Chiara Fiorillo, Monika Raimondi, Manuela Ergoli, Luisa Politano, Claudio Bruno, Anna Rubegni, Marika Pane, Filippo M. Santorelli, Carlo Minetti, Corrado Angelini, Jan De Bleecker, Maurizio Moggio, Tiziana Mongini, Giacomo Pietro Comi, Lucio Santoro, Eugenio Mercuri, Elena Pegoraro, Marina Mora, Peter Hackman, Bjarne Udd, Vincenzo Nigro JAMA Neurology, 2018
Mutations in GMPPB presenting with pseudometabolic myopathy Chiara Panicucci, Chiara Fiorillo, Francesca Moro, Guja Astrea, Giacomo Brisca, Federica Trucco, Marina Pedemonte, Paola Lanteri, Lucia Sciarretta, Carlo Minetti, Filippo M. Santorelli, Claudio Bruno Jimd Reports, 2018
MRI in sarcoglycanopathies: A large international cohort study Giorgio Tasca, Mauro Monforte, Jordi Díaz-Manera, Giacomo Brisca, Claudio Semplicini, Adele D’Amico, Fabiana Fattori, Anna Pichiecchio, Angela Berardinelli, Lorenzo Maggi, Elio Maccagnano, Nicoline Løkken, Chiara Marini-Bettolo, Francina Munell, Angel Sanchez, Nahla Alshaikh, Nicol C Voermans, Jahannaz Dastgir, Dmitry Vlodavets, Jana Haberlová, Gianmichele Magnano, Maggie C Walter, Susana Quijano-Roy, Robert-Yves Carlier, Baziel G M van Engelen, John Vissing, Volker Straub, Carsten G Bönnemann, Eugenio Mercuri, Francesco Muntoni, Elena Pegoraro, Enrico Bertini, Bjarne Udd, Enzo Ricci, Claudio Bruno Journal of Neurology Neurosurgery and Psychiatry, 2018
Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: An Italian cross-sectional study Guja Astrea, , Alessandro Romano, Corrado Angelini, Carlo Giuseppe Antozzi, Rita Barresi, Roberta Battini, Carla Battisti, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Marina Fanin, Fabiana Fattori, Chiara Fiorillo, Renzo Guerrini, Lorenzo Maggi, Eugenio Mercuri, Federica Morani, Marina Mora, Francesca Moro, Ilaria Pezzini, Esther Picillo, Michele Pinelli, Luisa Politano, Anna Rubegni, Walter Sanseverino, Marco Savarese, Pasquale Striano, Annalaura Torella, Carlo Pietro Trevisan, Rosanna Trovato, Irina Zaraieva, Francesco Muntoni, Vincenzo Nigro, Adele D’Amico, Filippo M. Santorelli Orphanet Journal of Rare Diseases, 2018
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder Gerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, Carlotta Ranieri, Silvia Di Tommaso, Claudio Bruno, Chiara Fiorillo, Marina Pedemonte, Daria Loconte, Roberto Della Casa, Pietro Strisciuglio, Maria Isabella Ginocchio, Michele Pinelli, Nicoletta Resta, Nicola Brunetti-Pierri European Journal of Medical Genetics, 2017
Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience Sonia Messina, Marika Pane, Valeria Sansone, Claudio Bruno, Michela Catteruccia, Giuseppe Vita, Concetta Palermo, Emilio Albamonte, Marina Pedemonte, Enrico Bertini, Luca Binetti, Eugenio Mercuri, Daniela Lauro, Anita Pallara, Simona Spinoglio, Maria Letizia Solinas, Grazia Zappa, Francesca Penno, Cristina Ponzanelli, Jacopo Casiraghi, Marcello Villanova, Danilo Tiziano, Anna Mandelli, Chiara Mastella, Alberto Fontana, Anna Ambrosini, Daniela Leone, Roberto de Sanctis, Nicola Forcina, Marco Piastra, Orazio Genovese, Alessandro Pedicelli, Maria Sframeli, Antonio Versaci, Imma Rulli, Eloisa Gitto, Cristina Faraone, Stefania La Foresta, Maria Macrì, Adele D'Amico, Giulia Colia, Anna Maria Bonetti, Adelina Carlesi, Renato Cutrera, Maria Beatrice Chiarini, Marta Ferretti, Alberto Garaventa, Giovanni Montobbio, Carlo Gandolfo, Valentina Iurilli, Paola Tacchetti, Emilia Bobeica, Alessia D'Agostino, Alice Pirola, Sara Luppone, Elisa De Mattia, Elisa Falcier, Fabrizio Rao, Fausto Fedeli, Luca Mancini, Paolo Stoia, Maurizio Heinen, Valeria Cozzi, Beatrice Travaglia, Emma Mizzotti Neuromuscular Disorders, 2017
Nusinersen versus sham control in infantile-onset spinal muscular atrophy Richard S. Finkel, Eugenio Mercuri, Basil T. Darras, Anne M. Connolly, Nancy L. Kuntz, Janbernd Kirschner, Claudia A. Chiriboga, Kayoko Saito, Laurent Servais, Eduardo Tizzano, Haluk Topaloglu, Már Tulinius, Jacqueline Montes, Allan M. Glanzman, Kathie Bishop, Z. John Zhong, Sarah Gheuens, C. Frank Bennett, Eugene Schneider, Wildon Farwell, Darryl C. De Vivo New England Journal of Medicine, 2017
Revisiting mitochondrial ocular myopathies: a study from the Italian Network D. Orsucci, C. Angelini, E. Bertini, V. Carelli, G. P. Comi, A. Federico, C. Minetti, M. Moggio, T. Mongini, F. M. Santorelli, S. Servidei, P. Tonin, A. Ardissone, L. Bello, C. Bruno, E. Caldarazzo Ienco, D. Diodato, M. Filosto, C. Lamperti, I. Moroni, O. Musumeci, E. Pegoraro, G. Primiano, D. Ronchi, A. Rubegni, S. Salvatore, M. Sciacco, M. L. Valentino, L. Vercelli, A. Toscano, M. Zeviani, G. Siciliano, M. Mancuso Journal of Neurology, 2017
Muscle MRI in neutral lipid storage disease (NLSD) Matteo Garibaldi, Giorgio Tasca, Jordi Diaz-Manera, Pierfancesco Ottaviani, Francesco Laschena, Donatella Pantoli, Simonetta Gerevini, Chiara Fiorillo, Lorenzo Maggi, Elisabetta Tasca, Adele D’Amico, Olimpia Musumeci, Antonio Toscano, Claudio Bruno, Roberto Massa, Corrado Angelini, Enrico Bertini, Giovanni Antonini, Elena Maria Pennisi Journal of Neurology, 2017
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial Enrico Bertini, Eric Dessaud, Eugenio Mercuri, Francesco Muntoni, Janbernd Kirschner, Carol Reid, Anna Lusakowska, Giacomo P Comi, Jean-Marie Cuisset, Jean-Louis Abitbol, Bruno Scherrer, Patricia Sanwald Ducray, Jeppe Buchbjerg, Eduardo Vianna, W Ludo van der Pol, Carole Vuillerot, Thomas Blaettler, Paulo Fontoura, Carole André, Claudio Bruno, Brigitte Chabrol, Nicolas Deconinck, Brigitte Estournet, Stephanie Fontaine-Carbonnel, Nathalie Goemans, Ksenija Gorni, Alessandra Govoni, Michela Guglieri, Hanns Lochmuller, Francesca Magri, Michele Mayer, Wolfgang Müller-Felber, François Rivier, Helen Roper, Ulrike Schara, Mariacristina Scoto, Leonard van den Berg, Giuseppe Vita, Maggie C Walter Lancet Neurology, 2017
Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients The Italian NLSD Group, Elena Maria Pennisi, Marcello Arca, Enrico Bertini, Claudio Bruno, Denise Cassandrini, Adele D’amico, Matteo Garibaldi, Francesca Gragnani, Lorenzo Maggi, Roberto Massa, Sara Missaglia, Lucia Morandi, Olimpia Musumeci, Elena Pegoraro, Emanuele Rastelli, Filippo Maria Santorelli, Elisabetta Tasca, Daniela Tavian, Antonio Toscano, Corrado Angelini Orphanet Journal of Rare Diseases, 2017
Diagnosis of Duchenne Muscular Dystrophy in Italy in the last decade: Critical issues and areas for improvements Adele D'Amico, Michela Catteruccia, Giovanni Baranello, Luisa Politano, Alessandra Govoni, Stefano Carlo Previtali, Marika Pane, Maria Grazia D'Angelo, Claudio Bruno, Sonia Messina, Federica Ricci, Elena Pegoraro, Antonella Pini, Angela Berardinelli, Ksenjia Gorni, Roberta Battini, Gianluca Vita, Federica Trucco, Marianna Scutifero, Roberta Petillo, Paola D'Ambrosio, Anna Ardissone, Barbara Pasanisi, Giuseppe Vita, Tiziana Mongini, Maurizio Moggio, Giacomo Pietro Comi, Eugenio Mercuri, Enrico Bertini Neuromuscular Disorders, 2017
MYH7-related myopathies: Clinical, histopathological and imaging findings in a cohort of Italian patients on behalf of the Italian Network on Congenital Myopathies, C. Fiorillo, G. Astrea, M. Savarese, D. Cassandrini, G. Brisca, F. Trucco, M. Pedemonte, R. Trovato, L. Ruggiero, L. Vercelli, A. D’Amico, G. Tasca, M. Pane, M. Fanin, L. Bello, P. Broda, O. Musumeci, C. Rodolico, S. Messina, G. L. Vita, M. Sframeli, S. Gibertini, L. Morandi, M. Mora, L. Maggi, A. Petrucci, R. Massa, M. Grandis, A. Toscano, E. Pegoraro, E. Mercuri, E. Bertini, T. Mongini, L. Santoro, V. Nigro, C. Minetti, F. M. Santorelli, C. Bruno Orphanet Journal of Rare Diseases, 2016
The genetic basis of undiagnosed muscular dystrophies and myopathies Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella, Chiara Fiorillo, Francesca Magri, Marina Fanin, Lucia Ruggiero, Giulia Ricci, Guja Astrea, Luigia Passamano, Alessandra Ruggieri, Dario Ronchi, Giorgio Tasca, Adele D'Amico, Sandra Janssens, Olimpia Farina, Margherita Mutarelli, Veer Singh Marwah, Arcomaria Garofalo, Teresa Giugliano, Simone Sanpaolo, Francesca Del Vecchio Blanco, Gaia Esposito, Giulio Piluso, Paola D'Ambrosio, Roberta Petillo, Olimpia Musumeci, Carmelo Rodolico, Sonia Messina, Anni Evilä, Peter Hackman, Massimiliano Filosto, Giuseppe Di Iorio, Gabriele Siciliano, Marina Mora, Lorenzo Maggi, Carlo Minetti, Sabrina Sacconi, Lucio Santoro, Kathleen Claes, Liliana Vercelli, Tiziana Mongini, Enzo Ricci, Francesca Gualandi, Rossella Tupler, Jan De Bleecker, Bjarne Udd, Antonio Toscano, Maurizio Moggio, Elena Pegoraro, Enrico Bertini, Eugenio Mercuri, Corrado Angelini, Filippo Maria Santorelli, Luisa Politano, Claudio Bruno, Giacomo Pietro Comi, Vincenzo Nigro Neurology, 2016
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients Daniela Piga, Francesca Magri, Dario Ronchi, Stefania Corti, Denise Cassandrini, Eugenio Mercuri, Giorgio Tasca, Enrico Bertini, Fabiana Fattori, Antonio Toscano, Sonia Messina, Isabella Moroni, Marina Mora, Maurizio Moggio, Irene Colombo, Teresa Giugliano, Marika Pane, Chiara Fiorillo, Adele D’Amico, Claudio Bruno, Vincenzo Nigro, Nereo Bresolin, Giacomo Pietro Comi Journal of Molecular Neuroscience, 2016
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers Marco Savarese, Olimpia Musumeci, Teresa Giugliano, Anna Rubegni, Chiara Fiorillo, Fabiana Fattori, Annalaura Torella, Roberta Battini, Carmelo Rodolico, Aniello Pugliese, Giulio Piluso, Lorenzo Maggi, Adele D'Amico, Claudio Bruno, Enrico Bertini, Filippo Maria Santorelli, Marina Mora, Antonio Toscano, Carlo Minetti, Vincenzo Nigro Neuromuscular Disorders, 2016
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Antonio Federico, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Paola Tonin, Antonio Toscano, Claudio Bruno, Elena Caldarazzo Ienco, Massimiliano Filosto, Costanza Lamperti, Daria Diodato, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Marco Spinazzi, Naghia Ahmed, Monica Sciacco, Liliana Vercelli, Anna Ardissone, Massimo Zeviani, Gabriele Siciliano Neuromuscular Disorders, 2016
Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study Sonia Messina, Gian Luca Vita, Maria Sframeli, Stefania Mondello, Elena Mazzone, Adele D'Amico, Angela Berardinelli, Matteo La Rosa, Claudio Bruno, Maria Grazia Distefano, Giovanni Baranello, Costanza Barcellona, Marianna Scutifero, Sonia Marcato, Arianna Palmieri, Luisa Politano, Lucia Morandi, Tiziana Mongini, Elena Pegoraro, Maria Grazia D'Angelo, Marika Pane, Carmelo Rodolico, Carlo Minetti, Enrico Bertini, Giuseppe Vita, Eugenio Mercuri Neuromuscular Disorders, 2016
Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: An observational study Elena S. Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D’Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C. Previtali, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Maria Grazia D’Angelo, Enrico Bertini, Eugenio Mercuri Plos One, 2016
Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry Ana Nikolic, Giulia Ricci, Francesco Sera, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Liliana Vercelli, Sabrina Ravaglia, Giacomo Brisca, Chiara Fiorillo, Luisa Villa, Lorenzo Maggi, Michelangelo Cao, Maria Chiara D'Amico, Gabriele Siciliano, Giovanni Antonini, Lucio Santoro, Tiziana Mongini, Maurizio Moggio, Lucia Morandi, Elena Pegoraro, Corrado Angelini, Antonio Di Muzio, Carmelo Rodolico, Giuliano Tomelleri, Maria Grazia D'Angelo, Claudio Bruno, Angela Berardinelli, Rossella Tupler BMJ Open, 2016
Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test Marika Pane, Lavinia Fanelli, Elena Stacy Mazzone, Giorgia Olivieri, Adele D'Amico, Sonia Messina, Marianna Scutifero, Roberta Battini, Roberta Petillo, Silvia Frosini, Serena Sivo, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Elena Pegoraro, Roberto De Sanctis, Alice Gardani, Angela Berardinelli, Valentina Lanzillotta, Adelina Carlesi, Emanuela Viggiano, Filippo Cavallaro, Maria Sframeli, Luca Bello, Andrea Barp, Flaviana Bianco, Serena Bonfiglio, Enrica Rolle, Concetta Palermo, Grazia D'Angelo, Antonella Pini, Elena Iotti, Ksenija Gorni, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri Neuromuscular Disorders, 2015
Paternal germline mosaicism in collagen VI related myopathies Annarita Armaroli, Cecilia Trabanelli, Chiara Scotton, Anna Venturoli, Rita Selvatici, Giacomo Brisca, Luciano Merlini, Claudio Bruno, Alessandra Ferlini, Francesca Gualandi European Journal of Paediatric Neurology, 2015
Centronuclear myopathies: genotype–phenotype correlation and frequency of defined genetic forms in an Italian cohort Fabiana Fattori, Lorenzo Maggi, Claudio Bruno, Denise Cassandrini, Valentina Codemo, Michela Catteruccia, Giorgio Tasca, Angela Berardinelli, Francesca Magri, Marika Pane, Anna Rubegni, Lucio Santoro, Lucia Ruggiero, Patrizio Fiorini, Antonella Pini, Tiziana Mongini, Sonia Messina, Giacomo Brisca, Irene Colombo, Guja Astrea, Chiara Fiorillo, Cinzia Bragato, Isabella Moroni, Elena Pegoraro, Maria Rosaria D’Apice, Enrico Alfei, Marina Mora, Lucia Morandi, Alice Donati, Anni Evilä, Anna Vihola, Bjarne Udd, Pia Bernansconi, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertini, Adele D’Amico Journal of Neurology, 2015
Redefining phenotypes associated with mitochondrial DNA single deletion Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Maria Alice Donati, Antonio Federico, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Filippo Maria Santorelli, Serenella Servidei, Paola Tonin, Antonio Toscano, Claudio Bruno, Luca Bello, Elena Caldarazzo Ienco, Elena Cardaioli, Michela Catteruccia, Paola Da Pozzo, Massimiliano Filosto, Costanza Lamperti, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Dario Ronchi, Donato Sauchelli, Mauro Scarpelli, Monica Sciacco, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano Journal of Neurology, 2015
6 minute walk test in Duchenne MD patients with different mutations: 12 month changes Marika Pane, Elena S. Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C. Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P. Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri Plos One, 2014
Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation Michelangelo Mancuso, Daniele Orsucci, Corrado Angelini, Enrico Bertini, Valerio Carelli, Giacomo Pietro Comi, Carlo Minetti, Maurizio Moggio, Tiziana Mongini, Serenella Servidei, Paola Tonin, Antonio Toscano, Graziella Uziel, Claudio Bruno, Elena Caldarazzo Ienco, Massimiliano Filosto, Costanza Lamperti, Diego Martinelli, Isabella Moroni, Olimpia Musumeci, Elena Pegoraro, Dario Ronchi, Filippo Maria Santorelli, Donato Sauchelli, Mauro Scarpelli, Monica Sciacco, Marco Spinazzi, Maria Lucia Valentino, Liliana Vercelli, Massimo Zeviani, Gabriele Siciliano Neurology, 2013
Duchenne muscular dystrophy and epilepsy M. Pane, S. Messina, C. Bruno, A. D’Amico, M. Villanova, B. Brancalion, S. Sivo, F. Bianco, P. Striano, D. Battaglia, D. Lettori, G.L. Vita, E. Bertini, F. Gualandi, V. Ricotti, A. Ferlini, E. Mercuri Neuromuscular Disorders, 2013
24 Month Longitudinal Data in Ambulant Boys with Duchenne Muscular Dystrophy Elena Stacy Mazzone, Marika Pane, Maria Pia Sormani, Roberta Scalise, Angela Berardinelli, Sonia Messina, Yvan Torrente, Adele D’Amico, Luca Doglio, Emanuela Viggiano, Paola D’Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Francesca Magri, Francesca Rossi, Gessica Vasco, GianLuca Vita, Maria Chiara Motta, Maria Alice Donati, Michele Sacchini, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo Pietro Comi, Enrico Bertini, Eugenio Mercuri Plos One, 2013
Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene Chiara Fiorillo, Giacomo Brisca, Denise Cassandrini, Sara Scapolan, Guja Astrea, Maura Valle, Francesca Scuderi, Federica Trucco, Andrea Natali, Gianmichele Magnano, Elisabetta Gazzerro, Carlo Minetti, Marcello Arca, Filippo M. Santorelli, Claudio Bruno Biochemical and Biophysical Research Communications, 2013
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: Definition of the clinical spectrum and molecular findings in five patients Denise Cassandrini, Maria Roberta Cilio, Marzia Bianchi, Mara Doimo, Martina Balestri, Alessandra Tessa, Teresa Rizza, Geppo Sartori, Maria Chiara Meschini, Claudia Nesti, Giulia Tozzi, Vittoria Petruzzella, Fiorella Piemonte, Luigi Bisceglia, Claudio Bruno, Carlo Dionisi‐Vici, Adele D'Amico, Fabiana Fattori, Rosalba Carrozzo, Leonardo Salviati, Filippo M. Santorelli, Enrico Bertini Journal of Inherited Metabolic Disease, 2013
TRPV4 mutations in children with congenital distal spinal muscular atrophy Chiara Fiorillo, Francesca Moro, Giacomo Brisca, Guja Astrea, Claudia Nesti, Zoltán Bálint, Andrea Olschewski, Maria Chiara Meschini, Christian Guelly, Michaela Auer-Grumbach, Roberta Battini, Marina Pedemonte, Alessandro Romano, Valeria Menchise, Roberta Biancheri, Filippo M. Santorelli, Claudio Bruno Neurogenetics, 2012
Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy Luca Bello, Luisa Piva, Andrea Barp, Antonella Taglia, Esther Picillo, Gessica Vasco, Marika Pane, Stefano C. Previtali, Yvan Torrente, Elisabetta Gazzerro, Maria Chiara Motta, Gaetano S. Grieco, Sara Napolitano, Francesca Magri, Adele D'Amico, Guja Astrea, Sonia Messina, Maria Sframeli, Gian Luca Vita, Patrizia Boffi, Tiziana Mongini, Alessandra Ferlini, Francesca Gualandi, Gianni Soraru', Mario Ermani, Giuseppe Vita, Roberta Battini, Enrico Bertini, Giacomo P. Comi, Angela Berardinelli, Carlo Minetti, Claudio Bruno, Eugenio Mercuri, Luisa Politano, Corrado Angelini, Eric P. Hoffman, Elena Pegoraro Neurology, 2012
Functional changes in Duchenne muscular dystrophy E. Mazzone, G. Vasco, M.P. Sormani, Y. Torrente, A. Berardinelli, S. Messina, A. D'Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, S. Bonfiglio, E. Zucchini, R. De Sanctis, M. Scutifero, F. Bianco, F. Rossi, M.C. Motta, A. Sacco, M.A. Donati, T. Mongini, A. Pini, R. Battini, E. Pegoraro, M. Pane, S. Gasperini, S. Previtali, S. Napolitano, D. Martinelli, C. Bruno, G. Vita, G. Comi, E. Bertini, E. Mercuri Neurology, 2011
McArdle disease: A clinical review R. Quinlivan, J. Buckley, M. James, A. Twist, S. Ball, M. Duno, J. Vissing, C. Bruno, D. Cassandrini, M. Roberts, J. Winer, M. Rose, C. Sewry Journal of Neurology Neurosurgery and Psychiatry, 2010
North Star Ambulatory Assessment, 6-minute walk test and timed items in ambulant boys with Duchenne muscular dystrophy Elena Mazzone, Diego Martinelli, Angela Berardinelli, Sonia Messina, Adele D’Amico, Gessica Vasco, Marion Main, Luca Doglio, Luisa Politano, Filippo Cavallaro, Silvia Frosini, Luca Bello, Adelina Carlesi, Anna Maria Bonetti, Elisabetta Zucchini, Roberto De Sanctis, Marianna Scutifero, Flaviana Bianco, Francesca Rossi, Maria Chiara Motta, Annalisa Sacco, Maria Alice Donati, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Marika Pane, Elisabetta Pasquini, Claudio Bruno, Giuseppe Vita, Chiara de Waure, Enrico Bertini, Eugenio Mercuri Neuromuscular Disorders, 2010
Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies D. Cassandrini, R. Biancheri, A. Tessa, M. Di Rocco, M. Di Capua, C. Bruno, P.S. Denora, S. Sartori, A. Rossi, P. Nozza, F. Emma, P. Mezzano, M.R. Politi, A.M. Laverda, F. Zara, L. Pavone, A. Simonati, V. Leuzzi, F.M. Santorelli, E. Bertini Neurology, 2010
Congenital muscular dystrophies with cognitive impairment: A population study S. Messina, C. Bruno, I. Moroni, E. Pegoraro, A. D'Amico, R. Biancheri, A. Berardinelli, P. Boffi, D. Cassandrini, L. Farina, C. Minetti, M. Moggio, T. Mongini, E. Mottarelli, M. Pane, C. Pantaleoni, A. Pichiecchio, A. Pini, E. Ricci, S. Saredi, M. Sframeli, G. Tortorella, A. Toscano, C.P. Trevisan, C. Uggetti, G. Vasco, G.P. Comi, F.M. Santorelli, E. Bertini, E. Mercuri Neurology, 2010
The spectrum of GNE mutations: Allelic heterogeneity for a common phenotype Marina Grandis, Rossella Gulli, Denise Cassandrini, Elisabetta Gazzerro, Luana Benedetti, Eleonora Narciso, Lucilla Nobbio, Claudio Bruno, Carlo Minetti, Emilia Bellone, Lizia Reni, Giovanni Luigi Mancardi, Paola Mandich, Angelo Schenone Neurological Sciences, 2010
SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR Francesco Danilo Tiziano, Anna Maria Pinto, Stefania Fiori, Rosa Lomastro, Sonia Messina, Claudio Bruno, Antonella Pini, Marika Pane, Adele D'Amico, Alessandro Ghezzo, Enrico Bertini, Eugenio Mercuri, Giovanni Neri, Christina Brahe European Journal of Human Genetics, 2010
Reliability of the North Star Ambulatory Assessment in a multicentric setting E.S. Mazzone, S. Messina, G. Vasco, M. Main, M. Eagle, A. D’Amico, L. Doglio, L. Politano, F. Cavallaro, S. Frosini, L. Bello, F. Magri, A. Corlatti, E. Zucchini, B. Brancalion, F. Rossi, M. Ferretti, M.G. Motta, M.R. Cecio, A. Berardinelli, P. Alfieri, T. Mongini, A. Pini, G. Astrea, R. Battini, G. Comi, E. Pegoraro, L. Morandi, M. Pane, C. Angelini, C. Bruno, M. Villanova, G. Vita, M.A. Donati, E. Bertini, E. Mercuri Neuromuscular Disorders, 2009
Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study E. Mercuri, S. Messina, C. Bruno, M. Mora, E. Pegoraro, G. P. Comi, A. D'Amico, C. Aiello, R. Biancheri, A. Berardinelli, P. Boffi, D. Cassandrini, A. Laverda, M. Moggio, L. Morandi, I. Moroni, M. Pane, R. Pezzani, A. Pichiecchio, A. Pini, C. Minetti, T. Mongini, E. Mottarelli, E. Ricci, A. Ruggieri, S. Saredi, C. Scuderi, A. Tessa, A. Toscano, G. Tortorella, C. P. Trevisan, C. Uggetti, G. Vasco, F. M. Santorelli, E. Bertini Neurology, 2009
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko, Maja Di Rocco, Clarissa Bueno, Alessandro Malandrini, Roberta Battini, Elisabeth Sickl, Maria Fulvia de Leva, Odile Boespflug-Tanguy, Gabriella Silvestri, Alessandro Simonati, Edith Said, Andreas Ferbert, Chiara Criscuolo, Karl Heinimann, Anna Modoni, Peter Weber, Silvia Palmeri, Martina Plasilova, Flavia Pauri, Denise Cassandrini, Carla Battisti, Antonella Pini, Michela Tosetti, Erwin Hauser, Marcella Masciullo, Roberto Di Fabio, Francesca Piccolo, Elodie Denis, Giovanni Cioni, Roberto Massa, Elvio Della Giustina, Olga Calabrese, Marina A.B. Melone, Giuseppe De Michele, Antonio Federico, Enrico Bertini, Alexandra Durr, Knut Brockmann, Marjo S. van der Knaap, Mayana Zatz, Alessandro Filla, Alexis Brice, Giovanni Stevanin, Filippo M. Santorelli Human Mutation, 2009
Peroxisomal acyl-CoA-oxidase deficiency: Two new cases Rosalba Carrozzo, Carlo Bellini, Simona Lucioli, Federica Deodato, Denise Cassandrini, Michela Cassanello, Ubaldo Caruso, Cristiano Rizzo, Teresa Rizza, Matteo L. Napolitano, Ronald J.A. Wanders, Cornelis Jakobs, Claudio Bruno, Filippo M. Santorelli, Carlo Dionisi‐Vici, Eugenio Bonioli American Journal of Medical Genetics Part A, 2008
POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study S. Messina, M. Mora, E. Pegoraro, A. Pini, T. Mongini, A. D’Amico, M. Pane, C. Aiello, C. Bruno, R. Biancheri, A. Berardinelli, C. Boito, L. Farina, L. Morandi, I. Moroni, R. Pezzani, A. Pichiecchio, E. Ricci, A. Ruggieri, S. Saredi, C. Scuderi, A. Tessa, A. Toscano, G. Tortorella, C.P. Trevisan, C. Uggetti, F.M. Santorelli, E. Bertini, E. Mercuri Neuromuscular Disorders, 2008
Clinical and genetic characterization of Chanarin-Dorfman syndrome Claudio Bruno, Enrico Bertini, Maja Di Rocco, Denise Cassandrini, Giuseppe Ruffa, Teresa De Toni, Marco Seri, Marco Spada, Giovanni Li Volti, Adele D’Amico, Federica Trucco, Marcello Arca, Carlo Casali, Corrado Angelini, Salvatore DiMauro, Carlo Minetti Biochemical and Biophysical Research Communications, 2008
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro Monica Traverso, Elisabetta Gazzerro, Stefania Assereto, Federica Sotgia, Roberta Biancheri, Silvia Stringara, Laura Giberti, Marina Pedemonte, Xiabo Wang, Sara Scapolan, Elisabetta Pasquini, Maria A Donati, Federico Zara, Michael P Lisanti, Claudio Bruno, Carlo Minetti Laboratory Investigation, 2008
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes Roberta Biancheri, Antonio Falace, Alessandra Tessa, Marina Pedemonte, Sara Scapolan, Denise Cassandrini, Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli, Carlo Minetti, Claudio Bruno Biochemical and Biophysical Research Communications, 2007
Null mutations and lethal congenital form of glycogen storage disease type IV Stefania Assereto, Otto P. van Diggelen, Luisa Diogo, Eva Morava, Denise Cassandrini, Isabel Carreira, Willem-Pieter de Boode, Jildau Dilling, Paula Garcia, Margarida Henriques, Olinda Rebelo, Henk ter Laak, Carlo Minetti, Claudio Bruno Biochemical and Biophysical Research Communications, 2007
Phenotypic characterization of hypomyelination and congenital cataract Roberta Biancheri, Federico Zara, Claudio Bruno, Andrea Rossi, Laura Bordo, Elisabetta Gazzerro, Federica Sotgia, Marina Pedemonte, Sara Scapolan, Massimo Bado, Graziella Uziel, Marianna Bugiani, Laura Doria Lamba, Valeria Costa, Angelo Schenone, Annemieke J. M. Rozemuller, Paolo Tortori‐Donati, Michael P. Lisanti, Marjo S. van der Knaap, Carlo Minetti Annals of Neurology, 2007
The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study F.D. Tiziano, E. Bertini, S. Messina, C. Angelozzi, M. Pane, A. D’Amico, P. Alfieri, S. Fiori, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, C. Minetti, T. Mongini, L. Morandi, S. Orcesi, M. Pelliccioni, A. Pini, M. Villanova, G. Vita, M. Locatelli, E. Mercuri, C. Brahe Neuromuscular Disorders, 2007
The NDUFB11 gene is not a modifier in Leber hereditary optic neuropathy Vittoria Petruzzella, Alessandra Tessa, Alessandra Torraco, Fabiana Fattori, Maria Teresa Dotti, Claudio Bruno, Elena Cardaioli, Sergio Papa, Antonio Federico, Filippo M. Santorelli Biochemical and Biophysical Research Communications, 2007
Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations Pasquale Striano, Nicola Specchio, Roberta Biancheri, Natalia Cannelli, Alessandro Simonati, Denise Cassandrini, Andrea Rossi, Claudio Bruno, Lucia Fusco, Roberto Gaggero, Federico Vigevano, Enrico Bertini, Federico Zara, Filippo M. Santorelli, Salvatore Striano Epilepsy and Behavior, 2007
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy E. Mercuri, E. Bertini, S. Messina, A. Solari, A. D'Amico, C. Angelozzi, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, F. Colitto, M. Kinali, C. Minetti, T. Mongini, L. Morandi, G. Neri, S. Orcesi, M. Pane, M. Pelliccioni, A. Pini, F. D. Tiziano, M. Villanova, G. Vita, C. Brahe Neurology, 2007
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract Federico Zara, Roberta Biancheri, Claudio Bruno, Laura Bordo, Stefania Assereto, Elisabetta Gazzerro, Federica Sotgia, Xiao Bo Wang, Stefania Gianotti, Silvia Stringara, Marina Pedemonte, Graziella Uziel, Andrea Rossi, Angelo Schenone, Paolo Tortori-Donati, Marjo S van der Knaap, Michael P Lisanti, Carlo Minetti Nature Genetics, 2006
A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy Denise Cassandrini, Maria Grazia Calevo, Alessandra Tessa, Giovanni Manfredi, Fabiana Fattori, Maria Chiara Meschini, Rosalba Carrozzo, Emmanuel Tonoli, Marina Pedemonte, Carlo Minetti, Federico Zara, Filippo M. Santorelli, Claudio Bruno Biochemical and Biophysical Research Communications, 2006
Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study E. Mercuri, S. Messina, R. Battini, A. Berardinelli, P. Boffi, R. Bono, C. Bruno, N. Carboni, C. Cini, F. Colitto, A. D'Amico, C. Minetti, M. Mirabella, T. Mongini, L. Morandi, N. Dlamini, S. Orcesi, M. Pelliccioni, M. Pane, A. Pini, A.V. Swan, M. Villanova, G. Vita, M. Main, F. Muntoni, E Bertini Neuromuscular Disorders, 2006
Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngologica Italica Organo Ufficiale Della Societa Italiana Di Otorinolaringologia E Chirurgia Cervico Facciale, 2006
Expanding the clinical spectrum of POMT1 phenotype A. D'Amico, A. Tessa, C. Bruno, S. Petrini, R. Biancheri, M. Pane, M. Pedemonte, E. Ricci, A. Falace, A. Rossi, E. Mercuri, F. M. Santorelli, E. Bertini Neurology, 2006
McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Claudio Bruno, Denise Cassandrini, Andrea Martinuzzi, Antonio Toscano, Maurizio Moggio, Lucia Morandi, Serena Servidei, Tiziana Mongini, Corrado Angelini, Olimpia Musumeci, Giacomo P. Comi, Costanza Lamperti, Massimiliano Filosto, Federico Zara, Carlo Minetti Human Mutation, 2006
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV) C. Bruno, O. P. van Diggelen, D. Cassandrini, M. Gimpelev, B. Giuffrè, M. A. Donati, P. Introvini, A. Alegria, S. Assereto, L. Morandi, M. Mora, E. Tonoli, S. Mascelli, M. Traverso, E. Pasquini, M. Bado, L. Vilarinho, G. van Noort, F. Mosca, S. DiMauro, F. Zara, C. Minetti Neurology, 2004
An additional family carrying a new atlastin mutation A. Tessa, C. Casali, M. Damiano, C. Bruno, D. Fortini, C. Patrono, F. Cricchi, M. Valoppi, G. Nappi, G.A. Amabile, E. Bertini, F.M. Santorelli Neurology, 2002
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA Antoni L. Andreu, Michael G. Hanna, Heinz Reichmann, Claudio Bruno, Audrey S. Penn, Kurenai Tanji, Francesco Pallotti, So Iwata, Eduardo Bonilla, Boleslaw Lach, John Morgan-Hughes, Sara Shanske, Carolyn M. Sue, Teeratorn Pulkes, Asra Siddiqui, John B. Clark, John Land, Momi Iwata, Jochen Schaefer, Salvatore DiMauro New England Journal of Medicine, 1999
Infantile encephalopathy associated with the MELAS A3243G mutation Carolyn M. Sue, Claudio Bruno, Antonio L. Andreu, Abba Cargan, Jerry R. Mendell, Chang-Yong Tsao, Mark Luquette, Juliann Paolicchi, Sara Shanske, Salvatore DiMauro, Darryl C. De Vivo Journal of Pediatrics, 1999
The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy Claudio Bruno, Denise M. Kirby, Yasutoshi Koga, Barbara Garavaglia, Gloria Duran, Filippo M. Santorelli, Lloyd K. Shield, Wenlang Xia, Sara Shanske, Jeffrey D. Goldstein, Rikako Iwanaga, Yukihiro Akita, Franco Carrara, Andrew Davis, Massimo Zeviani, David R. Thorburn, Salvatore DiMauro Journal of Pediatrics, 1999
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy Carlo Minetti, Federica Sotgia, Claudio Bruno, Paolo Scartezzini, Paolo Broda, Massimo Bado, Emiliana Masetti, Michela Mazzocco, Aliana Egeo, Maria Alice Donati, Daniela Volonté, Ferruccio Galbiati, Giuseppe Cordone, Franca Dagna Bricarelli, Michael P. Lisanti, Federico Zara Nature Genetics, 1998
