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31 results on '"Brolatti, Noemi"'

1. Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA

Author

Coratti, Giorgia, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M, Montes, Jaqueline, Pasternak, Amy, De Sanctis, Roberto, Young, Sally Dunaway, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, Pane, Marika, Scoto, Mariacristina, Messina, Sonia, Hirano, Michio, Zolkipli-Cunningham, Zarazuela, Darras, Basil T, Bertini, Enrico, Bruno, Claudio, Sansone, Valeria A, Day, John, Baranello, Giovanni, Pera, Maria Carmela, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Published
2024
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2. Corrigendum: The new Italian registry of infantile thrombosis (RITI): a reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian and Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Published
2024
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3. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pera, Maria Carmela, Bravetti, Chiara, Piastra, Marco, Genovese, Orazio, Cicala, Gianpaolo, Forcina, Nicola, Carnicella, Sara, Stanca, Giulia, Sacchini, Michele, Catteruccia, Michela, Tosi, Michele, Cutrera, Renato, Cherchi, Claudio, Chiarini, Maria Beatrice, Salmin, Francesca, Pedemonte, Marina, Govoni, Alessandra, Mizzoni, Irene, Morando, Simone, Zanin, Riccardo, Rolle, Enrica, Salomon, Eleonora, Giannotta, Melania, Scarpini, Gaia, Toscano, Antonio, Gitto, Eloisa, Materia, Roberto, D’Alessandro, Rossella, Pane, Marika, Berti, Beatrice, Capasso, Anna, Coratti, Giorgia, Varone, Antonio, D’Amico, Adele, Messina, Sonia, Masson, Riccardo, Sansone, Valeria Ada, Donati, Maria Alice, Agosto, Caterina, Bruno, Claudio, Ricci, Federica, Pini, Antonella, Gagliardi, Delio, Filosto, Massimiliano, Corti, Stefania, Leone, Daniela, Palermo, Concetta, Onesimo, Roberta, De Sanctis, Roberto, Ricci, Martina, Bitetti, Ilaria, Sframeli, Maria, Dosi, Claudia, Albamonte, Emilio, Ticci, Chiara, Brolatti, Noemi, Bertini, Enrico, Finkel, Richard, and Mercuri, Eugenio

Published
2023
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4. The new Italian registry of infantile thrombosis (RITI): A reflection on its journey, challenges and pitfalls

Author

Maria Federica Pelizza, Matteo Martinato, Anna Rosati, Margherita Nosadini, Paola Saracco, Paola Giordano, Matteo Luciani, Laura Ilardi, Donatella Lasagni, Angelo Claudio Molinari, Rossana Bagna, Antonella Palmieri, Luca Antonio Ramenghi, Massimo Grassi, Mariella Magarotto, Federica Magnetti, Andrea Francavilla, Giuseppe Indolfi, Agnese Suppiej, Chiara Gentilomo, Roberta Restelli, Antonella Tufano, Daniela Tormene, Jacopo Norberto Pin, Clarissa Tona, Davide Meneghesso, Lidia Rota, Marta Conti, Giovanna Russo, Giulia Lorenzoni, Dario Gregori, Stefano Sartori, Paolo Simioni, Collaborators of the R.I.T.I. (Italian Registry of Infantile Thrombosis), Accorsi Patrizia, Aceto Gabriella, Agnoletti Gabriella, Agostini Manuela, Alfarano Angela, Altieri Elena, Amador Carolina, Antonelli Camilla, Arena Vittoria, Asta Francesca, Baggio Laura, Ballardini Elisa, Baracetti Margherita, Baraldi Eugenio, Barberis Laura, Barisone Elena, Basso Anne Letizia, Battajon Nadia, Bersani Iliana, Biddeci Giada, Biffanti Roberta, Bonardi Claudia Maria, Bonaudo Roberto, Boniver Clementina, Boscarol Gianluca, Bottino Roberto, Bravar Giulia, Brizzi Ilaria, Brolatti Noemi, Braguglia Annabella, Guaragni Brunetta, Bugin Samuela, Calvo Pier Luigi, Capasso Antonella, Capodiferro Donatella, Cappelleri Alessia, Cascarano Maria Teresa, Casellato Susanna, Casini Tommaso, Catarzi Serena, Cavaliere Elena, Cavicchiolo Maria Elena, Celestino Silvia, Celle Maria Elena, Centonze Nicola, Cerutti Alessia, Chakrokh Roksana, Offer Chiara, Chiodin Elisabetta, Chirico Gaetano, Chukhlantseva Natalia, Cifarelli Paola, Cinelli Giulia, Coinu Marisa, Colonna Clara, Comito Donatella, Corato Alessandra, Cordelli Duccio Maria, Crichiutti Giovanni, Cursio Ida, Dagri Arianna, De Maria Beatrice, Del Borrello Giovanni, Di Rienzo Francesca, Doglioni Nicoletta, Dolcemascolo Valentina, Dotta Andrea, Drigo Paola, Drimaco Pietro, Ellero Serena, Falcone Alessandra, Fantauzzi Ambra, Farinasso Daniela, Ferilli Michela, Festa Silvia, Fischer Maximilian, Foiadelli Thomas, Fotzi Ilaria, Francavilla Rosa, Freschi Paola, Gaffuri Marcella, Gallo Elena, Gamalero Lisa, Gandioli Claudia, Garuccio Sergio, Gentile Diletta, Ghionzoli Marco, Giliberti Paola, Greco Filippo, Guariento Chiara, Guidotti Isotta, Iodice Alessandro, Janes Augusta, Laghi Elena, Lampugnani Elisabetta, Lassandro Giuseppe, Laverda Anna Maria, Lazzerotti Alessandra, Lo Tartaro Meragliotta Patrizia, Lombardini Martina, Lorenzon Eleonora, Mainini Nicoletta, Massoud Michela, Materia Valeria, Mattera Raffaele, Mauro Isabella, Melani Federico, Meli Mariaclaudia, Messina Giovanni, Monticone Sonia, Moras Marzia, Negro Ilaria, Olzai Giorgio, Pancani Simone, Pandolfi Maria, Passariello Annalisa, Passarini Alice, Passone Eva, Pastorino Myriam, Pegoraro Veronica, Pennoni Serena, Perilongo Giorgio, Pozzessere Anna, Pruna Dario, Pusiol Anna, Putti Maria Caterina, Rabbone Ivana, Radicioni Maurizio, Renna Salvatore, Ricci Maria Luisa, Rimini Alessandro, Rivellini Sara, Rustioni Gianluca, Salvadori Sabrina, Santoiemma Valentina, Santoro Nicola, Schiavulli Michele, Sebellin Sofia, Sesta Michela, Soffiati Massimo, Sorbo Monica, Spanedda Giuseppina, Stangalini Valeria, Stasolla Salvatore, Tanzi Giorgia, Testa Tiziana, Teutonico Federica, Timpani Giuseppina, Toldo Irene, Trapani Sandra, Vaccari Roberto, Vecchi Marilena, Vento Giovanni, Veraldi Daniele, Villa Giovanna, Visintin Gianluca, Zambelloni Cesare, and Zellini Francesco

Subjects
thrombosis, stroke, children, pediatric, registry, thromboembolism, Pediatrics, RJ1-570
Abstract

IntroductionThrombotic events in neonates and children represent a rare although severe occurrence in view of the associated risk of mortality and sequelae. Quality evidence is limited in this field, and registry studies provide an essential base for research. The aim of this paper is to present the new Italian Registry of Infantile Thrombosis (RITI), set it into the scene of international thrombosis and stroke registries, and provide some insight on the challenges associated with registry management.MethodsWe present the detailed structure and content of the new RITI registry, a brief overview of its main data, and a reflection on its features, pitfalls and the main challenges related to its management.ResultsThe RITI, initially started in 2007 and officially re-launched in 2017 after structural modifications, is a non-interventional retrospective and prospective registry study collecting data on neonatal and pediatric patients (0–18 years) who experienced a systemic or cerebral thrombotic event in Italy. The RITI is managed by a multidisciplinary team with expertise in pediatric thrombosis, and participation is open to all Italian physicians, on a voluntary basis. The overall aim of the registry is to acquire new evidence to better characterize the population of children with thrombotic events and improve their management and outcome. 48 Italian pediatric and intensive care units are actively involved in the RITI, including 85 medical doctors from 16 Italian regions. A total of 1,001 neonates and children affected by cerebral or systemic thrombosis have been enrolled.DiscussionThe RITI is one of the largest available European registries of neonatal and pediatric thrombosis. National registries like the RITI represent a model for the study of rare conditions based on multidisciplinary and multicenter collaboration, aimed at overcoming the limitations due to small populations of patients, and creating a network of experts for patient referral and continuous education. Moreover, registry studies have a pivotal role in the research on pediatric thrombosis, due to the limited feasibility of high-quality studies. In our experience, the main critical stages, pitfalls and challenges in registry management include adequate registry designing, diffusion, data completeness and quality control.

Published
2023
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5. Body mass index in type 2 spinal muscular atrophy: a longitudinal study

Author

Ferrantini, Gloria, Coratti, Giorgia, Onesimo, Roberta, Lucibello, Simona, Bompard, Sarah, Turrini, Ida, Cicala, Graziamaria, Caprarelli, Michela, Pera, Maria Carmela, Bravetti, Chiara, Berti, Beatrice, Giorgio, Valentina, Bruno, Claudio, Brolatti, Noemi, Panicucci, Chiara, D’Amico, Adele, Longo, Antonella, Leoni, Chiara, Sansone, Valeria A., Albamonte, Emilio, Messina, Sonia, Sframeli, Maria, Bertini, Enrico, Pane, Marika, and Mercuri, Eugenio

Published
2022
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6. Long term follow-up of scoliosis progression in type II SMA patients

Author

Coratti, Giorgia, Pera, Maria Carmela, D'Amico, Adele, Bruno, Claudio, Bovis, Francesca, Gullì, Consolato, Brolatti, Noemi, Pedemonte, Marina, Apicella, Massimo, Antonaci, Laura, Ricci, Martina, Capasso, Anna, Cicala, Gianpaolo, Cutrona, Costanza, de Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Catteruccia, Michela, Damasio, Maria Beatrice, Labianca, Luca, Leone, Antonio, Bertini, Enrico, Pane, Marika, and Mercuri, Eugenio

Published
2022
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7. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Volpe, Joseph J, Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Gerber, Marianne, Khwaja, Omar, Scalco, Renata S, Seabrook, Timothy, Koch, Armin, Balikova, Irina, Joniau, Inge, Accou, Geraldine, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, de Holanda Mendonça, Rodrigo, Matsui Jr, Ciro, Fornazieri Darcie, Ana Letícia, Machado, Cleide, Kiyoko Oyamada, Maria, Martini, Joyce, Polido, Graziela, Rodrigues Iannicelli, Juliana, Caires de Oliveira Achili Ferreira, Juliana, Hu, Chaoping, Zhu, Xiaomei, Qian, Chen, Shen, Li, Li, Hui, Shi, Yiyun, Zhou, Shuizhen, Xiao, Ying, Zhou, Zhenxuan, Wang, Sujuan, Sang, Tian, Wei, Cuijie, Dong, Hui, Cao, Yiwen, Wen, Jing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Celovec, Ivan, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Tomas, Josipa, Boespflug-Tanguy, Odile, De Lucia, Silvana, Seferian, Andrea, Barreau, Emmanuel, Mnafek, Nabila, Peche, Helene, Grange, Allison, Trang Nguyen, Diem, Milascevic, Darko, Tachibana, Shotaro, Pagliano, Emanuela, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Dosi, Claudia, Zanin, Riccardo, Schembri, Veronica, Brolatti, Noemi, Rao, Giuseppe, Tassara, Elisa, Morando, Simone, Tacchetti, Paola, Pedemonte, Marina, Priolo, Enrico, Sposetti, Lorenza, Comi, Giacomo Pietro, Govoni, Alessandra, Osnaghi, Silvia Gabriella, Minorini, Valeria, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amalia, Pane, Marika, Palermo, Concetta, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Guglielmo, Orazi, Lorenzo, Coratti, Giorgia, Leone, Daniela, Laura, Antonaci, De Sanctis, Roberto, Berti, Beatrice, Kimura, Naoki, Takeshima, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Gomi, Fumi, Morimatsu, Takanobu, Furukawa, Toru, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Modrzejewska, Sandra, Lemska, Anna, Melnik, Evgenia, Artemyeva, Svetlana, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Litvinova, Elena, Enzmann, Cornelia, Galiart, Elea, Gugleta, Konstantin, Wondrusch Haschke, Christine, Topaloglu, Haluk, Oncel, Ibrahim, Ertugrul, Nesibe Eroglu, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Sari, Seher, Bilgin, Neslihan, Karaduman, Aynur Ayse, Sarikaya, Fatma Gokcem Yildiz, Graham, Robert J, Ghosh, Partha, Casavant, David, Levine, Alexis, Titus, Rachael, Engelbrekt, Amanda, Ambrosio, Lucia, Fulton, Anne, Baglieri, Anna Maria, Dias, Courtney, Maczek, Elizabeth, Pasternak, Amy, Beres, Shannon, Duong, Tina, Gee, Richard, Young, Sally, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Rose, Kristy, Servais, Laurent, Xiong, Hui, Zanoteli, Edmar, Baranello, Giovanni, Bruno, Claudio, Day, John W, Deconinck, Nicolas, Klein, Andrea, Mercuri, Eugenio, Vlodavets, Dmitry, Wang, Yi, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Jaber, Birgit, Kletzl, Heidemarie, Gaki, Eleni, Fontoura, Paulo, and Darras, Basil T

Published
2022
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8. Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.

Author

Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Muni‐Lofra, Robert, Duong, Tina, Rohwer, Annemarie, Dunaway Young, Sally, Civitello, Matthew, Salmin, Francesca, Mizzoni, Irene, Morando, Simone, Pane, Marika, Albamonte, Emilio, D'Amico, Adele, Brolatti, Noemi, and Sframeli, Maria

Subjects
SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors
Abstract

Background and purpose: Spinal muscular atrophy (SMA) is a rare and progressive neuromuscular disorder with varying severity levels. The aim of the study was to calculate minimal clinically important difference (MCID), minimal detectable change (MDC), and values for the Hammersmith Functional Motor Scale Expanded (HFMSE) in an untreated international SMA cohort. Methods: The study employed two distinct methods. MDC was calculated using distribution‐based approaches to consider standard error of measurement and effect size change in a population of 321 patients (176 SMA II and 145 SMA III), allowing for stratification based on age and function. MCID was assessed using anchor‐based methods (receiver operating characteristic [ROC] curve analysis and standard error) on 76 patients (52 SMA II and 24 SMA III) for whom the 12‐month HFMSE could be anchored to a caregiver‐reported clinical perception questionnaire. Results: With both approaches, SMA type II and type III patients had different profiles. The MCID, using ROC analysis, identified optimal cutoff points of −2 for type II and −4 for type III patients, whereas using the standard error we found the optimal cutoff points to be 1.5 for improvement and −3.2 for deterioration. Furthermore, distribution‐based methods uncovered varying values across age and functional status subgroups within each SMA type. Conclusions: These results emphasize that the interpretation of a single MCID or MDC value obtained in large cohorts with different functional status needs to be made with caution, especially when these may be used to assess possible responses to new therapies. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study

Author

Buchignani, Bianca, primary, Cicala, Gianpaolo, additional, Cumbo, Francesca, additional, Ricci, Martina, additional, Capasso, Anna, additional, Ticci, Chiara, additional, Mazzanti, Sara, additional, Brolatti, Noemi, additional, Tosi, Michele, additional, Dosi, Claudia, additional, Antonaci, Laura, additional, Coratti, Giorgia, additional, Pera, Maria Carmela, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Berti, Beatrice, additional, Frongia, Anna Lia, additional, Sacchini, Michele, additional, Bruno, Claudio, additional, Masson, Riccardo, additional, D’Amico, Adele, additional, Battini, Roberta, additional, Pane, Marika, additional, and Mercuri, Eugenio, additional

Published
2024
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10. Evaluating Treatment and Care Outcomes for Neuromuscular Diseases in a Pediatric Intermediate Care Setting

Author

Brisca, Giacomo, primary, Strati, Marina F., additional, Canzoneri, Francesca, additional, Mariani, Marcello, additional, Pirlo, Daniela, additional, Romanengo, Marta, additional, Tardini, Giacomo, additional, Brolatti, Noemi, additional, Buratti, Silvia, additional, Pedemonte, Marina, additional, Striano, Pasquale, additional, Bruno, Claudio, additional, and Moscatelli, Andrea, additional

Published
2024
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12. Non-interventional, retrospective data of long-term home parenteral nutrition in patients with benign diseases: Analysis of a nurse register (SERECARE)

Author

De Francesco, Antonella, Diamanti, Antonella, Gandullia, Paolo, Aimasso, Umberto, Arrigo, Serena, Brolatti, Noemi, Capriati, Teresa, Elia, Domenica, Mazzuoli, Silvia, Merlo, Fabio Dario, Pazzeschi, Caterina, Regano, Nunzia, Sasdelli, Anna Simona, Pironi, Loris, and Guglielmi, Francesco William

Published
2019
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13. Early treatment of type II SMA slows rate of progression of scoliosis.

Author

Coratti, Giorgia, Lenkowicz, Jacopo, Pera, Maria Carmela, D'Amico, Adele, Bruno, Claudio, Gullì, Consolato, Brolatti, Noemi, Pedemonte, Marina, Antonaci, Laura, Ricci, Martina, Capasso, Anna, Cicala, Gianpaolo, Cutrona, Costanza, de Sanctis, Roberto, Carnicella, Sara, Forcina, Nicola, Cateruccia, Michela, Damasio, Maria Beatrice, Labianca, Luca, and Manfroni, Francesca

Subjects
PROGRESSION-free survival, SCOLIOSIS, SPINAL muscular atrophy, NEUROMUSCULAR diseases
Abstract

A study published in the Journal of Neurology, Neurosurgery & Psychiatry examines the impact of early treatment on scoliosis progression in patients with type II spinal muscular atrophy (SMA). The study compares scoliosis progression between treated and untreated patients and identifies specific cut-off values that indicate how pharmacological treatment may slow down scoliosis progression. The findings suggest that early intervention with pharmacological treatment can delay the progression of scoliosis in type II SMA patients. These findings can guide clinicians in determining the optimal timing for treatment initiation and have implications for treatment guidelines and policies for SMA patients. [Extracted from the article]

Published
2024
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14. Early Muscle MRI Findings in a Pediatric Case of Emery-Dreifuss Muscular Dystrophy Type 1

Author

Panicucci, Chiara, additional, Casalini, Sara, additional, Traverso, Monica, additional, Brolatti, Noemi, additional, Baratto, Serena, additional, Raffaghello, Lizzia, additional, Pedemonte, Marina, additional, Doglio, Luca, additional, Derchi, Maria, additional, Tasca, Giorgio, additional, Damasio, Beatrice M., additional, Fiorillo, Chiara, additional, and Bruno, Claudio, additional

Published
2023
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15. Onasemnogene abeparvovec in spinal muscular atrophy: predictors of efficacy and safety in naïve patients with spinal muscular atrophy and following switch from other therapies

Author

Pane, Marika, primary, Berti, Beatrice, additional, Capasso, Anna, additional, Coratti, Giorgia, additional, Varone, Antonio, additional, D’Amico, Adele, additional, Messina, Sonia, additional, Masson, Riccardo, additional, Sansone, Valeria Ada, additional, Donati, Maria Alice, additional, Agosto, Caterina, additional, Bruno, Claudio, additional, Ricci, Federica, additional, Pini, Antonella, additional, Gagliardi, Delio, additional, Filosto, Massimiliano, additional, Corti, Stefania, additional, Leone, Daniela, additional, Palermo, Concetta, additional, Onesimo, Roberta, additional, De Sanctis, Roberto, additional, Ricci, Martina, additional, Bitetti, Ilaria, additional, Sframeli, Maria, additional, Dosi, Claudia, additional, Albamonte, Emilio, additional, Ticci, Chiara, additional, Brolatti, Noemi, additional, Bertini, Enrico, additional, Finkel, Richard, additional, Mercuri, Eugenio, additional, Pera, Maria Carmela, additional, Bravetti, Chiara, additional, Piastra, Marco, additional, Genovese, Orazio, additional, Cicala, Gianpaolo, additional, Forcina, Nicola, additional, Carnicella, Sara, additional, Stanca, Giulia, additional, Sacchini, Michele, additional, Catteruccia, Michela, additional, Tosi, Michele, additional, Cutrera, Renato, additional, Cherchi, Claudio, additional, Chiarini, Maria Beatrice, additional, Salmin, Francesca, additional, Pedemonte, Marina, additional, Govoni, Alessandra, additional, Mizzoni, Irene, additional, Morando, Simone, additional, Zanin, Riccardo, additional, Rolle, Enrica, additional, Salomon, Eleonora, additional, Giannotta, Melania, additional, Scarpini, Gaia, additional, Toscano, Antonio, additional, Gitto, Eloisa, additional, Materia, Roberto, additional, and D’Alessandro, Rossella, additional

Published
2023
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16. Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients

Author

Panicucci, Chiara, primary, Casalini, Sara, additional, Damasio, Beatrice M., additional, Brolatti, Noemi, additional, Pedemonte, Marina, additional, Biolcati Rinaldi, Alessandra, additional, Morando, Simone, additional, Doglio, Luca, additional, Raffaghello, Lizzia, additional, Fiorillo, Chiara, additional, Zara, Federico, additional, Tasca, Giorgio, additional, and Bruno, Claudio, additional

Published
2023
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17. Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function

Author

Pane, Marika, Coratti, Giorgia, Sansone, Valeria A, Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, Brolatti, Noemi, Mizzoni, Irene, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Salmin, Francesca, De Sanctis, Roberto, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Ricci, Federica, Cavallina, Ilaria, Masson, Riccardo, Zanin, Riccardo, Agosto, Caterina, Salomon, Eleonora, Bruno, Irene, Magnolato, Andrea, Bertini, Enrico, Tiziano, Francesco Danilo, Bovis, Francesca, and Mercuri, Eugenio

Subjects
motor function, longitudinal study, nusinersen, long-term results, spinal muscular atrophy
Published
2023

18. Nusinersen efficacy data for 24‐month in type 2 and 3 spinal muscular atrophy

Author

Pane, Marika, Coratti, Giorgia, Pera, Maria Carmela, Sansone, Valeria A, Messina, Sonia, D'Amico, Adele, Bruno, Claudio, Salmin, Francesca, Albamonte, Emilio, De Sanctis, Roberto, Sframeli, Maria, Di Bella, Vincenzo, Morando, Simone, Palermo, Concetta, Frongia, Anna Lia, Antonaci, Laura, Capasso, Anna, Catteruccia, Michela, Longo, Antonella, Ricci, Martina, Cutrona, Costanza, Pirola, Alice, Bravetti, Chiara, Pedemonte, Marina, Brolatti, Noemi, Bertini, Enrico, and Mercuri, Eugenio

Subjects
Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, spinal muscular atroophy, Nusinersen, General Neuroscience, Oligonucleotides, Humans, Neurology (clinical)
Abstract

The study reports real world data in type 2 and 3 SMA patients treated for at least 2 years with nusinersen. Increase in motor function was observed after 12 months and during the second year. The magnitude of change was variable across age and functional subgroup, with the largest changes observed in young patients with higher function at baseline. When compared to natural history data, the difference between study cohort and untreated patients swas significant on both Hammersmith Functional Motor Scale and Revised Upper Limb Module both at 12 months and at 24 months.

Published
2022

19. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial

Author

Masson, Riccardo, primary, Mazurkiewicz-Bełdzińska, Maria, additional, Rose, Kristy, additional, Servais, Laurent, additional, Xiong, Hui, additional, Zanoteli, Edmar, additional, Baranello, Giovanni, additional, Bruno, Claudio, additional, Day, John W, additional, Deconinck, Nicolas, additional, Klein, Andrea, additional, Mercuri, Eugenio, additional, Vlodavets, Dmitry, additional, Wang, Yi, additional, Dodman, Angela, additional, El-Khairi, Muna, additional, Gorni, Ksenija, additional, Jaber, Birgit, additional, Kletzl, Heidemarie, additional, Gaki, Eleni, additional, Fontoura, Paulo, additional, Darras, Basil T, additional, Volpe, Joseph J, additional, Posner, John, additional, Kellner, Ulrich, additional, Quinlivan, Rosaline, additional, Gerber, Marianne, additional, Khwaja, Omar, additional, Scalco, Renata S, additional, Seabrook, Timothy, additional, Koch, Armin, additional, Balikova, Irina, additional, Joniau, Inge, additional, Accou, Geraldine, additional, Tahon, Valentine, additional, Wittevrongel, Sylvia, additional, De Vos, Elke, additional, de Holanda Mendonça, Rodrigo, additional, Matsui Jr, Ciro, additional, Fornazieri Darcie, Ana Letícia, additional, Machado, Cleide, additional, Kiyoko Oyamada, Maria, additional, Martini, Joyce, additional, Polido, Graziela, additional, Rodrigues Iannicelli, Juliana, additional, Caires de Oliveira Achili Ferreira, Juliana, additional, Hu, Chaoping, additional, Zhu, Xiaomei, additional, Qian, Chen, additional, Shen, Li, additional, Li, Hui, additional, Shi, Yiyun, additional, Zhou, Shuizhen, additional, Xiao, Ying, additional, Zhou, Zhenxuan, additional, Wang, Sujuan, additional, Sang, Tian, additional, Wei, Cuijie, additional, Dong, Hui, additional, Cao, Yiwen, additional, Wen, Jing, additional, Li, Wenzhu, additional, Qin, Lun, additional, Barisic, Nina, additional, Celovec, Ivan, additional, Galiot Delic, Martina, additional, Ivkic, Petra Kristina, additional, Vukojevic, Nenad, additional, Kern, Ivana, additional, Najdanovic, Boris, additional, Skugor, Marin, additional, Tomas, Josipa, additional, Boespflug-Tanguy, Odile, additional, De Lucia, Silvana, additional, Seferian, Andrea, additional, Barreau, Emmanuel, additional, Mnafek, Nabila, additional, Peche, Helene, additional, Grange, Allison, additional, Trang Nguyen, Diem, additional, Milascevic, Darko, additional, Tachibana, Shotaro, additional, Pagliano, Emanuela, additional, Bianchi Marzoli, Stefania, additional, Santarsiero, Diletta, additional, Garcia Sierra, Myriam, additional, Tremolada, Gemma, additional, Arnoldi, Maria Teresa, additional, Vigano, Marta, additional, Dosi, Claudia, additional, Zanin, Riccardo, additional, Schembri, Veronica, additional, Brolatti, Noemi, additional, Rao, Giuseppe, additional, Tassara, Elisa, additional, Morando, Simone, additional, Tacchetti, Paola, additional, Pedemonte, Marina, additional, Priolo, Enrico, additional, Sposetti, Lorenza, additional, Comi, Giacomo Pietro, additional, Govoni, Alessandra, additional, Osnaghi, Silvia Gabriella, additional, Minorini, Valeria, additional, Abbati, Francesca, additional, Fassini, Federica, additional, Foa, Michaela, additional, Lopopolo, Amalia, additional, Pane, Marika, additional, Palermo, Concetta, additional, Pera, Maria Carmela, additional, Amorelli, Giulia Maria, additional, Barresi, Costanza, additional, D'Amico, Guglielmo, additional, Orazi, Lorenzo, additional, Coratti, Giorgia, additional, Leone, Daniela, additional, Laura, Antonaci, additional, De Sanctis, Roberto, additional, Berti, Beatrice, additional, Kimura, Naoki, additional, Takeshima, Yasuhiro, additional, Shimomura, Hideki, additional, Lee, Tomoko, additional, Gomi, Fumi, additional, Morimatsu, Takanobu, additional, Furukawa, Toru, additional, Stodolska-Koberda, Urszula, additional, Waskowska, Agnieszka, additional, Kolendo, Jagoda, additional, Sobierajska-Rek, Agnieszka, additional, Modrzejewska, Sandra, additional, Lemska, Anna, additional, Melnik, Evgenia, additional, Artemyeva, Svetlana, additional, Leppenen, Natalya, additional, Yupatova, Nataliya, additional, Monakhova, Anastasya, additional, Papina, Yulia, additional, Shidlovsckaia, Olga, additional, Litvinova, Elena, additional, Enzmann, Cornelia, additional, Galiart, Elea, additional, Gugleta, Konstantin, additional, Wondrusch Haschke, Christine, additional, Topaloglu, Haluk, additional, Oncel, Ibrahim, additional, Ertugrul, Nesibe Eroglu, additional, Konuskan, Bahadir, additional, Eldem, Bora, additional, Kadayifçilar, Sibel, additional, Alemdaroglu, Ipek, additional, Sari, Seher, additional, Bilgin, Neslihan, additional, Karaduman, Aynur Ayse, additional, Sarikaya, Fatma Gokcem Yildiz, additional, Graham, Robert J, additional, Ghosh, Partha, additional, Casavant, David, additional, Levine, Alexis, additional, Titus, Rachael, additional, Engelbrekt, Amanda, additional, Ambrosio, Lucia, additional, Fulton, Anne, additional, Baglieri, Anna Maria, additional, Dias, Courtney, additional, Maczek, Elizabeth, additional, Pasternak, Amy, additional, Beres, Shannon, additional, Duong, Tina, additional, Gee, Richard, additional, and Young, Sally, additional

Published
2022
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20. Pediatric SARS-CoV-2–Related Diplopia and Mesencephalic Abnormalities

Author

Signa, Sara, primary, Brolatti, Noemi, additional, Trincianti, Chiara, additional, Tortora, Domenico, additional, Saffioti, Carolina, additional, Di Marco, Eddi, additional, Acquila, Maura, additional, Amadori, Elisabetta, additional, Fiorillo, Chiara, additional, Ricci, Erica, additional, Striano, Pasquale, additional, Castagnola, Elio, additional, and Vari, Maria Stella, additional

Published
2022
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21. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment

Author

Fiorillo, Chiara, primary, Capodivento, Giovanna, additional, Geroldi, Alessandro, additional, Tozza, Stefano, additional, Moroni, Isabella, additional, Mohassel, Payam, additional, Cataldi, Matteo, additional, Campana, Chiara, additional, Morando, Simone, additional, Panicucci, Chiara, additional, Pedemonte, Marina, additional, Brolatti, Noemi, additional, Siliquini, Sabrina, additional, Traverso, Monica, additional, Baratto, Serena, additional, Debellis, Doriana, additional, Magri, Stefania, additional, Prada, Valeria, additional, Bellone, Emilia, additional, Salpietro, Vincenzo, additional, Donkervoort, Sandra, additional, Gable, Kenneth, additional, Gupta, Sita D., additional, Dunn, Teresa M., additional, Bönnemann, Carsten G., additional, Taroni, Franco, additional, Bruno, Claudio, additional, Schenone, Angelo, additional, Mandich, Paola, additional, Nobbio, Lucilla, additional, and Nolano, Maria, additional

Published
2022
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22. Acute Neurological Presentation in Children With SARS-CoV-2 Infection

Author

Riva, Antonella, primary, Piccolo, Gianluca, additional, Balletti, Federica, additional, Binelli, Maria, additional, Brolatti, Noemi, additional, Verrotti, Alberto, additional, Amadori, Elisabetta, additional, Spalice, Alberto, additional, Giacomini, Thea, additional, Mancardi, Maria Margherita, additional, Iannetti, Paola, additional, Vari, Maria Stella, additional, Piccotti, Emanuela, additional, Striano, Pasquale, additional, and Brisca, Giacomo, additional

Published
2022
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24. Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study.

Author

Cances, Claude, Vlodavets, Dmitry, Comi, Giacomo Pietro, Masson, Riccardo, Mazurkiewicz-Bełdzińska, Maria, Saito, Kayoko, Zanoteli, Edmar, Dodman, Angela, El-Khairi, Muna, Gorni, Ksenija, Gravestock, Isaac, Hoffart, Janine, Scalco, Renata S., Darras, Basil T., the ANCHOVY Working Group, Alberti, Katia, Baranello, Giovanni, Barisic, Nina, Brolatti, Noemi, and Bruno, Claudio

Abstract

Background: ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIREFISH (NCT02913482) interventional study of risdiplam treatment in Type 1 SMA.Methods: Data were extracted from medical records of patients with first symptoms attributable to Type 1 SMA between 28 days and 3 months of age, genetic confirmation of SMA, and confirmed survival of motor neuron 2 copy number of two or unknown. The study period started on 1 January 2008 for all sites; study end dates were site-specific due to local treatment availabilities. Primary endpoints were time to death and/or permanent ventilation and proportion of patients achieving motor milestones. Secondary endpoints included time to initiation of respiratory and feeding support.Results: Data for 60 patients from nine countries across Asia, Europe and North and South America were analyzed. The median age (interquartile range [IQR]) for reaching death or permanent ventilation was ~ 7.3 (5.9-10.5) months. The median age (IQR) at permanent ventilation was ~ 12.7 (6.9-16.4) months and at death was ~ 41.2 (7.3-not applicable) months. No patients were able to sit without support or achieved any level of crawling, standing or walking.Interpretation: Findings from ANCHOVY were consistent with published natural history data on Type 1 SMA demonstrating the disease's devastating course, which markedly differed from risdiplam-treated infants (FIREFISH Part 2). The results provide meaningful additions to the literature, including a broader geographical representation. [ABSTRACT FROM AUTHOR]

Published
2022
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25. Musculoskeletal Features without Ataxia Associated with a Novel de novo Mutation in KCNA1 Impairing the Voltage Sensitivity of Kv1.1 Channel

Author

Imbrici, Paola, primary, Accogli, Andrea, additional, Blunck, Rikard, additional, Altamura, Concetta, additional, Iacomino, Michele, additional, D’Adamo, Maria Cristina, additional, Allegri, Anna, additional, Pedemonte, Marina, additional, Brolatti, Noemi, additional, Vari, Stella, additional, Cataldi, Matteo, additional, Capra, Valeria, additional, Gustincich, Stefano, additional, Zara, Federico, additional, Desaphy, Jean-Francois, additional, and Fiorillo, Chiara, additional

Published
2021
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28. Precision medicine in early-onset epilepsy: the KCNQ2 paradigm

Author

Amadori, Elisabetta, primary, Brolatti, Noemi, additional, Scala, Marcello, additional, Marchese, Francesca, additional, Vari, Maria Stella, additional, Ramenghi, Luca Antonio, additional, Madia, Francesca, additional, Minetti, Carlo, additional, and Striano, Pasquale, additional

Published
2020
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29. Anterior chest wall deformities in children with neurofibromatosis type 1.

Author

Chelleri, Cristina, Guerriero, Vittorio, Torre, Michele, Brolatti, Noemi, Piccolo, Gianluca, Mattioli, Girolamo, Boero, Silvio, Minetti, Carlo, and Diana, Maria Cristina

Subjects
NEUROFIBROMATOSIS 1, PECTUS excavatum, HUMAN abnormalities, GENE silencing, DNA, SKELETAL abnormalities, GENETIC disorders
Abstract

Patients with NF1 sometimes develop anterior chest wall deformities, although the few available studies have only been conducted in adults.2 Our aims were to investigate if anterior chest wall deformities were already detectable in children with NF1 and assess their frequency. In 2006, Crawford et al reported a 4.3% prevalence of pectus deformities in a descriptive study of orthopaedic complications in children with NF1.3 The prevalence of our anterior chest wall deformities (3.4%) was significantly higher than the general population ( I P i < 0.001)2 but the male/female ratio (3:1) was similar. [Extracted from the article]

Published
2021
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30. Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Author

Chelleri C, Brolatti N, De Marco P, Ognibene M, Diana MC, Madia F, Duca MD, Santangelo A, Capra V, Striano P, Zara F, and Scala M

Abstract

Legius syndrome, commonly referred to as SPRED1-related neurofibromatosis type 1-like syndrome, is a rare autosomal dominant disorder characterized by café-au-lait macules, freckling, lipomas, macrocephaly, and heterogeneous neurodevelopmental manifestations, including a different degree of learning difficulties. Although a partial clinical overlap exists with neurofibromatosis type 1 (NF1), Legius syndrome is distinguished by its genetic etiology and the absence of neurofibromas, indicating an inherent lack of tumor risk. The SPRED1 gene encodes the Sprouty-related protein with an EVH1 domain 1 (SPRED1), a negative regulator of the RAS-MAPK signaling pathway with a crucial role in cellular growth and development. Despite various genetic variants and genomic deletions associated with Legius syndrome, the full genetic spectrum of this condition remains elusive. In this study, we investigated the underlying genetic etiology in a cohort of patients presenting with typical manifestations of Legius syndrome using a custom Next Generation Sequencing (NGS) panel and Multiplex Ligation-Dependent Probe Amplification (MLPA) for NF1 and SPRED1. We identified 12 novel SPRED1 damaging variants segregating with the phenotype in all families. These rare variants affect conserved residues of the protein and are predicted damaging according to in silico tools. No clear genotype-phenotype correlations could be observed in the current cohort and previously reported patients, underscoring the heterogeneous genotype spectrum of this condition. Our findings expand the understanding of SPRED1 variants causing Legius syndrome and underscore the importance of comprehensively characterizing the genetic landscape of this disorder. Despite the absence of clear genotype-phenotype correlations, elucidating the genetic etiology of Legius syndrome is pertinent for facilitating accurate diagnosis, genetic counseling, and therapeutic interventions., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Published
2024
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31. Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor, respiratory and bulbar function.

Author

Pane M, Coratti G, Sansone VA, Messina S, Catteruccia M, Bruno C, Sframeli M, Albamonte E, Pedemonte M, Brolatti N, Mizzoni I, D'Amico A, Bravetti C, Berti B, Palermo C, Leone D, Salmin F, De Sanctis R, Pera MC, Piastra M, Genovese O, Ricci F, Cavallina I, Masson R, Zanin R, Agosto C, Salomon E, Bruno I, Magnolato A, Bertini E, Tiziano FD, Bovis F, and Mercuri E

Subjects
Child, Infant, Humans, Infant, Newborn, Follow-Up Studies, Oligonucleotides therapeutic use, Neurologic Examination, Spinal Muscular Atrophies of Childhood drug therapy, Muscular Atrophy, Spinal drug therapy
Abstract

Background: We report the 4-year follow-up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number., Methods: The study included SMA 1 patients with at least one assessment after 12, 24 and 48 months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE-II)., Results: Forty-eight patients, with ages ranging from 7 days to 12 years (mean 3.3 years, SD 3.6 years) were included in the study. The CHOP INTEND and HINE-II scores significantly increased between baseline and 48 months (p < 0.001). When age at starting treatment subgroups (<210 days, <2 years, 2-4 years, 5-11 years, ≥12 years) were considered, the CHOP INTEND increased significantly in patients younger than 4 years at treatment, while the HINE-2 increased significantly in patients younger than 2 years at treatment. In a mixed-model analysis, age, nutritional and respiratory status were predictive of changes on both scales while SMN2 copy number and decimal classification were not., Conclusions: Our results confirm the safety profile previously reported and support the durability of the efficacy of nusinersen at 4 years with an overall stability or mild improvement and no evidence of deterioration over a long period of time., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)

Published
2023
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