Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module

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

Source: In Neuromuscular Disorders November 2024 44

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

Authors: 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, Mercuri, Eugenio

Source: In Neuromuscular Disorders August 2024 41:42-50

Type I spinal muscular atrophy patients treated with nusinersen: 4‐year follow‐up of motor, respiratory and bulbar function

Authors: 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, Mercuri, Eugenio

Source: European journal of neurology. 30(6):1755-1763

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Facial nerve vulnerability in spinal muscular atrophy and motor unit number index of the orbicularis oculi muscle

Authors: Barp, Andrea, Carraro, Elena, Salmin, Francesca, Lizio, Andrea, Cheli, Marta, Sansone, Valeria

Source: Muscle & nerve. 67(5):401-406

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100183852051.0x000001&indx=1&recIds=ETOCvdc_100183852051.0x000001

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

Authors: 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, Mercuri, Eugenio

Source: In eClinicalMedicine May 2023 59

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

Authors: 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, Mercuri, Eugenio

Source: Annals of clinical and translational neurology. 9(3):404-409

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100144309908.0x000001&indx=1&recIds=ETOCvdc_100144309908.0x000001

Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

Authors: Coratti, Giorgia, Pane, Marika, Lucibello, Simona, Pera, Maria Carmela, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A, Duong, Tina, Dunaway Young, Sally, Messina, Sonia, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M, Bruno, Claudio, Salmin, Francesca, Tacchetti, Paola, Carnicella, Sara, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, De Vivo, Darryl C., Darras, Basil T., Day, John, Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

Source: In Neuromuscular Disorders July 2021 31(7):596-602

The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

Authors: Sansone, Valeria A., Pirola, Alice, Lizio, Andrea, Greco, Lucia Catherine, Coratti, Giorgia, Casiraghi, Jacopo, Pane, Marika, Pera, Maria Carmela, Italiano, Cristina, Messina, Sonia, Pozzi, Susanna, Sframeli, Maria, D'Amico, Adele, Bertini, Enrico, Bruno, Claudio, Mauro, Luca, Salmin, Francesca, Stancanelli, Claudia, Pedemonte, Marina, Albamonte, Emilio, Zizzi, Christine, Heatwole, Chad, Mercuri, Eugenio

Source: In Neuromuscular Disorders May 2021 31(5):409-418

Nusinersen in pediatric and adult patients with type III spinal muscular atrophy

Authors: Pera, Maria Carmela, Coratti, Giorgia, Bovis, Francesca, Pane, Marika, Pasternak, Amy, Montes, Jacqueline, Sansone, Valeria A., Dunaway Young, Sally, Duong, Tina, Messina, Sonia, Mizzoni, Irene, D'Amico, Adele, Civitello, Matthew, Glanzman, Allan M., Bruno, Claudio, Salmin, Francesca, Morando, Simone, De Sanctis, Roberto, Sframeli, Maria, Antonaci, Laura, Frongia, Anna Lia, Rohwer, Annemarie, Scoto, Mariacristina, De Vivo, Darryl C., Darras, Basil T., Day, John, Martens, William, Patanella, Katia A., Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio

Source: Annals of clinical and translational neurology. 8(8):1622-1634

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132324856.0x000001&indx=1&recIds=ETOCvdc_100132324856.0x000001

12‐Month progression of motor and functional outcomes in congenital myotonic dystrophy

Authors: Quigg, Kellen H., Berggren, Kiera N., McIntyre, Melissa, Bates, Kameron, Salmin, Francesca, Casiraghi, Jacopo L., DʼAmico, Adele, Astrea, Guja, Ricci, Federica, McKay, Marnee J., Baldwin, Jennifer N., Burns, Joshua, Campbell, Craig, Sansone, Valeria A., Johnson, Nicholas E.

Source: Muscle & nerve. 63(3):384-391

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100120665389.0x000001&indx=1&recIds=ETOCvdc_100120665389.0x000001

Type I SMA 'new natural history': long‐term data in nusinersen‐treated patients

Authors: Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Catteruccia, Michela, Bruno, Claudio, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Palermo, Concetta, Leone, Daniela, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, De Sanctis, Roberto, Lucibello, Simona, Pera, Maria Carmela, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Gianluca, Tiziano, Francesco Danilo, Mercuri, Eugenio

Source: Annals of clinical and translational neurology. 8(3):548-557

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117468507.0x000001&indx=1&recIds=ETOCvdc_100117468507.0x000001

Long‐term natural history in type II and III spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded.

Authors: Coratti, Giorgia, Bovis, Francesca, Pera, Maria Carmela, Civitello, Matthew, Rohwer, Annemarie, Salmin, Francesca, Glanzman, Allan M., Montes, Jacqueline, Pasternak, Amy, De Sanctis, Roberto, Dunaway Young, Sally, Duong, Tina, Mizzoni, Irene, Milev, Evelin, Sframeli, Maria, Morando, Simone, Albamonte, Emilio, D'Amico, Adele, Catteruccia, Michela, Brolatti, Noemi

Source: European Journal of Neurology; Dec2024, Vol. 31 Issue 12, p1-11, 11p

Subject Terms: SPINAL muscular atrophy, NATURAL history, GENETIC disorders, GENETIC mutation, FUNCTIONAL status

Muscle MRI in two SMA patients on nusinersen treatment: A two years follow-up

Authors: Barp, Andrea, Carraro, Elena, Albamonte, Emilio, Salmin, Francesca, Lunetta, Christian, Comi, Giacomo Pietro, Messina, Carmelo, Albano, Domenico, Chianca, Vito, Sconfienza, Luca Maria, Mercuri, Eugenio Maria, Sansone, Valeria Ada

Source: In Journal of the Neurological Sciences 15 October 2020 417

Respiratory Needs in Patients with Type 1 Spinal Muscular Atrophy Treated with Nusinersen

Authors: Sansone, Valeria A. ^∗, Pirola, Alice ^∗, Albamonte, Emilio, Pane, Marika, Lizio, Andrea, D'Amico, Adele, Catteruccia, Michela, Cutrera, Renato, Bruno, Claudio, Pedemonte, Marina, Messina, Sonia, Rao, Fabrizio, Roma, Elisabetta, Salmin, Francesca, Coratti, Giorgia, Di Bari, Alessandra, De Sanctis, Roberto, Pera, Maria Carmela, Sframeli, Maria, Piastra, Marco, Macagno, Francesco, Vita, Giuseppe, Bertini, Enrico, Mercuri, Eugenio

Source: In The Journal of Pediatrics April 2020 219:223-228

Longitudinal natural history in young boys with Duchenne muscular dystrophy

Authors: Coratti, Giorgia, Brogna, Claudia, Norcia, Giulia, Ricotti, Valeria, Abbott, Lianne, D'Amico, Adele, Berardinelli, Angela, Vita, Gian Luca, Lucibello, Simona, Messina, Sonia, Sansone, Valeria, Albamonte, Emilio, Colia, Giulia, Salmin, Francesca, Gardani, Alice, Manzur, Adnan, Main, Marion, Baranello, Giovanni, Arnoldi, Maria Teresa, Parsons, Julie, Carry, Terri, Connolly, Anne M., Bertini, Enrico, Muntoni, Francesco, Pane, Marika, Mercuri, Eugenio

Source: In Neuromuscular Disorders November 2019 29(11):857-862

Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1—Results from a Retrospective Analysis in Italy.

Authors: Trucco, Federica, Lizio, Andrea, Roma, Elisabetta, di Bari, Alessandra, Salmin, Francesca, Albamonte, Emilio, Casiraghi, Jacopo, Pozzi, Susanna, Becchiati, Stefano, Antonaci, Laura, Salvalaggio, Anna, Catteruccia, Michela, Tosi, Michele, Marinella, Gemma, Danti, Federica R., Bruschi, Fabio, Veneruso, Marco, Parravicini, Stefano, Fiorillo, Chiara, Berardinelli, Angela

Source: Journal of Clinical Medicine; Sep2024, Vol. 13 Issue 18, p5459, 14p

Subject Terms: SLEEP quality, SLEEP apnea syndromes, MYOTONIA atrophica, BEHAVIOR disorders in children, GRIP strength

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

Authors: 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, Sframeli, Maria

Source: European Journal of Neurology; Aug2024, Vol. 31 Issue 8, p1-10, 10p

Subject Terms: SPINAL muscular atrophy, NEUROMUSCULAR diseases, RECEIVER operating characteristic curves, MEASUREMENT errors

Nusinersen in type 1 spinal muscular atrophy: Twelve‐month real‐world data

Authors: Pane, Marika, Coratti, Giorgia, Sansone, Valeria A., Messina, Sonia, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Bravetti, Chiara, Berti, Beatrice, Brigati, Giorgia, Tacchetti, Paola, Salmin, Francesca, de Sanctis, Roberto, Lucibello, Simona, Piastra, Marco, Genovese, Orazio, Bertini, Enrico, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio

Source: Annals of neurology. 86(3):443-451

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100086636749.0x000001&indx=1&recIds=ETOCvdc_100086636749.0x000001

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

Authors: Sansone, Valeria A, Albamonte, Emilio, Salmin, Francesca, Casiraghi, Jacopo, Pirola, Alice, Bettinelli, Massimo, Rao, Fabrizio, Mancini, Luca, Tovaglieri, Nicola, Fedeli, Fausto, Stoia, Paolo, Heinen, Maurizio, Cozzi, Valeria, Carraro, Elena, Lunetta, Christian, Di Bari, Alessandra, Mercuri, Eugenio

Source: Neurological sciences. 40(2):327-332

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100126304565.0x000001&indx=1&recIds=ETOCvdc_100126304565.0x000001

Resolution of skin necrosis after nusinersen treatment in an infant with spinal muscular atrophy

Authors: Salmin, Francesca, Albamonte, Emilio, Morettini, Valentina, Gagliano, Nicoletta, Mercuri, Eugenio, Sansone, Valeria Ada

Source: Muscle & nerve. 59(6):E42-E44

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100084038587.0x000001&indx=1&recIds=ETOCvdc_100084038587.0x000001