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11 results on '"Bozzoni, Virginia"'

4. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Ravaglia, Sabrina, Servidei, Serenella, Moggio, Maurizio, Musumeci, Olimpia, Donati, Maria Alice, Pegoraro, Elena, Di Muzio, Antonio, Maggi, Lorenzo, Tonin, Paola, Marrosu, Gianni, Sancricca, Cristina, Lerario, Alberto, Sacchini, Michele, Semplicini, Claudio, Bozzoni, Virginia, Telese, Roberta, Bonanno, Silvia, Piras, Rachele, Maioli, Maria Antonietta, Ricci, Giulia, Vercelli, Liliana, Galvagni, Anna, Gallo Cassarino, Serena, Caria, Filomena, Mongini, Tiziana, Siciliano, Gabriele, Padovani, Alessandro, and Toscano, Antonio

Published
2019
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5. 6MWT as measure of motor function and endurance in SMA type 3 patients treated with nusinersen

Author

Govoni, Alessandra, Ricci, Giulia, Maggi, Lorenzo, Meneri, Megi, Bonanno, Silvia, Bello, Luca, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Gadaleta, Giulio, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Vacchiano, Veria, Sorarù, Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Riccardo, Zanin, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Maioli, Mariantonietta, Marrosu, Gianni, Simone, Isabella, Mongini, Tiziana Enrica, Pegoraro, Elena, Corti, Stefania, Siciliano, Gabriele, and Comi, Giacomo Pietro

Published
2021
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7. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Author

Maggi, Lorenzo, primary, Bello, Luca, additional, Bonanno, Silvia, additional, Govoni, Alessandra, additional, Caponnetto, Claudia, additional, Passamano, Luigia, additional, Grandis, Marina, additional, Trojsi, Francesca, additional, Cerri, Federica, additional, Ferraro, Manfredi, additional, Bozzoni, Virginia, additional, Caumo, Luca, additional, Piras, Rachele, additional, Tanel, Raffaella, additional, Saccani, Elena, additional, Meneri, Megi, additional, Vacchiano, Veria, additional, Ricci, Giulia, additional, Soraru', Gianni, additional, D'Errico, Eustachio, additional, Tramacere, Irene, additional, Bortolani, Sara, additional, Pavesi, Giovanni, additional, Zanin, Riccardo, additional, Silvestrini, Mauro, additional, Politano, Luisa, additional, Schenone, Angelo, additional, Previtali, Stefano Carlo, additional, Berardinelli, Angela, additional, Turri, Mara, additional, Verriello, Lorenzo, additional, Coccia, Michela, additional, Mantegazza, Renato, additional, Liguori, Rocco, additional, Filosto, Massimiliano, additional, Marrosu, Gianni, additional, Siciliano, Gabriele, additional, Simone, Isabella Laura, additional, Mongini, Tiziana, additional, Comi, Giacomo, additional, and Pegoraro, Elena, additional

Published
2020
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9. The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1.

Author

Cona, Giorgia, Casagrande, Arianna, Lenzoni, Sabrina, Pegoraro, Elena, Bozzoni, Virginia, Bello, Luca, Sorarù, Gianni, Botta, Annalisa, and Semenza, Carlo

Subjects
MYOTONIA atrophica, MENTAL rotation, MUSCLE weakness, NEUROMUSCULAR diseases, NEUROLOGY
Abstract

Objective: This study explored mental rotation (MR) performance in patients with myotonic dystrophy 1 (DM1), an inherited neuromuscular disorder dominated by muscular symptoms, including muscle weakness and myotonia. The aim of the study was twofold: to gain new insights into the neurocognitive mechanisms of MR and to better clarify the cognitive profile of DM1 patients. To address these aims, we used MR tasks involving kinds of stimuli that varied for the extent to which they emphasized motor simulation and activation of body representations (body parts) versus visuospatial imagery (abstract objects). We hypothesized that, if peripheral sensorimotor feedback system plays a pivotal role in modulating MR performance, then DM1 patients would exhibit more difficulties in mentally rotating hand stimuli than abstract objects. Method: Twenty-four DM1 patients and twenty-four age- and education-matched control subjects were enrolled in the study and were required to perform two computerized MR tasks involving pictures of hands and abstract objects. Results: The analysis of accuracy showed that patients had impaired MR performance when the angular disparities between the stimuli were higher. Notably, as compared to controls, patients showed slower responses when the stimuli were hands, whereas no significant differences when stimuli were objects. Conclusion: The findings are coherent with the embodied cognition view, indicating a tight relation between body- and motor-related processes and MR. They suggest that peripheral, muscular, abnormalities in DM1 lead to alterations in manipulation of motor representations, which in turn affect MR, especially when body parts are to mentally rotate. [ABSTRACT FROM AUTHOR]

Published
2020
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11. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3

Author

Veria Vacchiano, Luca Bello, Renato Mantegazza, Eustachio D'Errico, Tiziana Mongini, Riccardo Zanin, Gabriele Siciliano, Francesca Trojsi, Elena Saccani, Federica Cerri, Marina Grandis, Michela Coccia, Stefano C. Previtali, Alessandra Govoni, Massimiliano Filosto, L. Passamano, Giovanni Pavesi, Luisa Politano, Mauro Silvestrini, Claudia Caponnetto, Silvia Bonanno, Virginia Bozzoni, Manfredi Ferraro, Elena Pegoraro, Raffaella Tanel, Lorenzo Verriello, Angelo Schenone, Sara Bortolani, Lorenzo Maggi, Angela Berardinelli, Giacomo P. Comi, Megi Meneri, Rocco Liguori, Gianni Sorarù, G. Marrosu, Mara Turri, Luca Caumo, Irene Tramacere, Rachele Piras, Giulia Ricci, Isabella Laura Simone, Maggi, Lorenzo, Bello, Luca, Bonanno, Silvia, Govoni, Alessandra, Caponnetto, Claudia, Passamano, Luigia, Grandis, Marina, Trojsi, Francesca, Cerri, Federica, Ferraro, Manfredi, Bozzoni, Virginia, Caumo, Luca, Piras, Rachele, Tanel, Raffaella, Saccani, Elena, Meneri, Megi, Vacchiano, Veria, Ricci, Giulia, Soraru', Gianni, D'Errico, Eustachio, Tramacere, Irene, Bortolani, Sara, Pavesi, Giovanni, Zanin, Riccardo, Silvestrini, Mauro, Politano, Luisa, Schenone, Angelo, Previtali, Stefano Carlo, Berardinelli, Angela, Turri, Mara, Verriello, Lorenzo, Coccia, Michela, Mantegazza, Renato, Liguori, Rocco, Filosto, Massimiliano, Marrosu, Gianni, Siciliano, Gabriele, Simone, Isabella Laura, Mongini, Tiziana, Comi, Giacomo, Pegoraro, Elena, Maggi L., Bello L., Bonanno S., Govoni A., Caponnetto C., Passamano L., Grandis M., Trojsi F., Cerri F., Ferraro M., Bozzoni V., Caumo L., Piras R., Tanel R., Saccani E., Meneri M., Vacchiano V., Ricci G., Soraru' G., D'Errico E., Tramacere I., Bortolani S., Pavesi G., Zanin R., Silvestrini M., Politano L., Schenone A., Previtali S.C., Berardinelli A., Turri M., Verriello L., Coccia M., Mantegazza R., Liguori R., Filosto M., Marrosu G., Siciliano G., Simone I.L., Mongini T., Comi G., and Pegoraro E.

Subjects
Male, Pediatrics, spinal muscular atrophy type 3, Vital Capacity, spinal muscular atrophy type 2, Oligonucleotides, Walking, Spinal Muscular Atrophies of Childhood, Cohort Studies, Efficacy, 0302 clinical medicine, Forced Expiratory Volume, Age of Onset, Young adult, Injections, Spinal, Sitting Position, 0303 health sciences, Middle Aged, Psychiatry and Mental health, Treatment Outcome, Italy, Female, Nusinersen, Cohort study, Adult, medicine.medical_specialty, Adolescent, Spinal, Walk Test, Injections, Young Adult, 03 medical and health sciences, Rating scale, medicine, Humans, Aged, Functional Status, Oligonucleotides, Antisense, Retrospective Studies, Antisense, 030304 developmental biology, business.industry, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, Surgery, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery
Abstract

ObjectiveTo retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).MethodsInclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).ResultsWe included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18–72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, pConclusionsOur data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.

Published
2020

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