Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016

Authors: Gardani, Alice, Costantino, Maria Antonella, Bitetti, Ilaria, Franguel, Matteo Tuana, Sframeli, Maria, Magnolato, Andrea, Rausa, Myriam, Pagliaccia, Elena, Negri, Mirea, Del Monaco, Cesare, Berti, Beatrice, Leone, Daniela, Palermo, Concetta, Bertini, Enrico, Longo, Antonella, Dosi, Claudia, Carnicella, Sara, Morando, Simone, Brolatti, Noemi, Vento, Alessandra, Cavallina, Ilaria, Ferrante, Roberta, Bernasconi, Laura, Piastra, Marco, Genovese, Orazio, Forcina, Nicola, Benedetti, Francesca, Damioli, Simona, Fanelli, Lavinia, Stanca, Giulia, Norcia, Giulia, Sacchini, Michele, Ticci, Chiara, Briganti, Elena, Pera, Maria Carmela ^{a, b, y}, Coratti, Giorgia ^{a, b, y}, Pane, Marika ^{a, b}, Masson, Riccardo ^c, Sansone, Valeria Ada ^d, D’Amico, Adele ^e, Catteruccia, Michela ^e, Agosto, Caterina ^f, Varone, Antonio ^g, Bruno, Claudio ^h, Messina, Sonia ⁱ, Ricci, Federica ^j, Bruno, Irene ^k, Procopio, Elena ^l, Pini, Antonella ^m, Siliquini, Sabrina ⁿ, Zanin, Riccardo ^c, Albamonte, Emilio ^d, Berardinelli, Angela ^o, Mastella, Chiara ^p, Baranello, Giovanni ^{q, r}, Previtali, Stefano Carlo ^s, Trabacca, Antonio ^t, Bravetti, Chiara ^{a, b}, Gagliardi, Delio ^u, Filosto, Massimiliano ^{v, x}, de Sanctis, Roberto ^{a, b}, Finkel, Richard ^w, Mercuri, Eugenio ^{a, b, ∗}

Source: In eClinicalMedicine December 2024 78

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

Gain and loss of upper limb abilities in Duchenne muscular dystrophy patients: A 24-month study

Authors: Coratti, Giorgia, Pane, Marika, Brogna, Claudia, D'Amico, Adele, Pegoraro, Elena, Bello, Luca, Sansone, Valeria A., Albamonte, Emilio, Ferraroli, Elisabetta, Mazzone, Elena Stacy, Fanelli, Lavinia, Messina, Sonia, Sframeli, Maria, Catteruccia, Michela, Cicala, Gianpaolo, Capasso, Anna, Ricci, Martina, Frosini, Silvia, De Luca, Giacomo, Rolle, Enrica, De Sanctis, Roberto, Forcina, Nicola, Norcia, Giulia, Passamano, Luigia, Scutifero, Marianna, Gardani, Alice, Pini, Antonella, Monaco, Giulia, D'Angelo, Maria Grazia, Leone, Daniela, Zanin, Riccardo, Vita, Gian Luca, Panicucci, Chiara, Bruno, Claudio, Mongini, Tiziana, Ricci, Federica, Berardinelli, Angela, Battini, Roberta, Masson, Riccardo, Baranello, Giovanni, Dosi, Claudia, Bertini, Enrico, Nigro, Vincenzo, Politano, Luisa, Mercuri, Eugenio

Source: In Neuromuscular Disorders January 2024 34:75-82

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

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185009822.0x000001&indx=1&recIds=ETOCvdc_100185009822.0x000001

Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

Authors: Buchignani, Bianca, Cicala, Gianpaolo, Moriconi, Federica, Ricci, Martina, Capasso, Anna, Coratti, Giorgia, Casiraghi, Jacopo, Albamonte, Emilio, Cristofani, Paola, Cutrona, Costanza, Pera, Maria C., Antonaci, Laura, Roncoroni, Camilla, Chieffo, Daniela, Sansone, Valeria A., Battini, Roberta, Pane, Marika, Mercuri, Eugenio

Source: In Neuromuscular Disorders October 2023 33(10):711-717

TeleNEwCARe: An Italian case-control telegenetics study in patients with Hereditary NEuromuscular and CARdiac diseases

Authors: Farnè, Marianna, Fortunato, Fernanda, Neri, Marcella, Farnè, Matteo, Balla, Cristina, Albamonte, Emilio, Barp, Andrea, Armaroli, Annarita, Perugini, Enrica, Carinci, Valeria, Facchini, Marco, Chiarini, Luca, Sansone, Valeria A., Straudi, Sofia, Tugnoli, Valeria, Sette, Elisabetta, Sensi, Mariachiara, Bertini, Matteo, Evangelista, Teresinha, Ferlini, Alessandra, Gualandi, Francesca

Source: In European Journal of Medical Genetics June 2023 66(6)

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

Sporadic Hemiplegic Migraine Type 1 and Congenital Ataxia due to a Single Amino Acid Deletion (ΔF1502) in CACNA1A : A Challenging Diagnosis

Authors: Albamonte, Emilio, Barp, Andrea, Duga, Valentina, Carraro, Elena, Passarini, Alice, Bergamoni, Stefania, Maggi, Lorenzo, Sansone, Valeria

Source: Journal of pediatric neurology. 20(1):067-070

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191742467.0x000001&indx=1&recIds=ETOCvdc_100191742467.0x000001

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

Authors: Coratti, Giorgia, Carmela Pera, Maria, Montes, Jacqueline, Scoto, Mariacristina, Pasternak, Amy, Bovis, Francesca, Sframeli, Maria, D'Amico, Adele, Pane, Marika, Albamonte, Emilio, Antonaci, Laura, Lia Frongia, Anna, Mizzoni, Irene, Sansone, Valeria A, Russo, Massimo, Bruno, Claudio, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M, Duong, Tina, de Sanctis, Roberto, Stacy Mazzone, Elena, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Darras, Basil T, Bertini, Enrico, Day, John, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard S, Mercuri, Eugenio

Source: NEUROMUSCULAR DISORDERS. 32(1):36-42

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155208818.0x000001&indx=1&recIds=ETOCvdc_100155208818.0x000001

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

The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy

Authors: Brogna, Claudia, Coratti, Giorgia, Rossi, Rachele, Neri, Marcella, Messina, Sonia, Amico, Adele D’, Bruno, Claudio, Lucibello, Simona, Vita, Gianluca, Berardinelli, Angela, Magri, Francesca, Ricci, Federica, Pedemonte, Marina, Mongini, Tiziana, Battini, Roberta, Bello, Luca, Pegoraro, Elena, Baranello, Giovanni, Politano, Luisa, Comi, Giacomo P., Sansone, Valeria A, Albamonte, Emilio, Donati, Alice, Bertini, Enrico, Goemans, Nathalie, Previtali, Stefano, Bovis, Francesca, Pane, Marika, Ferlini, Alessandra, Mercuri, Eugenio

Source: In Neuromuscular Disorders June 2021 31(6):479-488

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

Different trajectories in upper limb and gross motor function in spinal muscular atrophy

Authors: Coratti, Giorgia, Pera, Maria Carmela, Montes, Jacqueline, Pasternak, Amy, Scoto, Mariacristina, Baranello, Giovanni, Messina, Sonia, Dunaway Young, Sally, Glanzman, Allan M., Duong, Tina, De Sanctis, Roberto, Mazzone, Elena Stacy, Milev, Evelin, Rohwer, Annemarie, Civitello, Matthew, Pane, Marika, Antonaci, Laura, Frongia, Anna Lia, Sframeli, Maria, Vita, Gian Luca, DʼAmico, Adele, Mizzoni, Irene, Albamonte, Emilio, Darras, Basil T., Bertini, Enrico, Sansone, Valeria A., Bovis, Francesca, Day, John, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio

Source: Muscle & nerve. 64(5):552-559

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134634010.0x000001&indx=1&recIds=ETOCvdc_100134634010.0x000001

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

Prognostic factors for tube feeding in type I SMA patients treated with disease-modifying therapies: a cohort study.

Authors: Pane, Marika, Stanca, Giulia, Coratti, Giorgia, D' Amico, Adele, Sansone, Valeria Ada, Berti, Beatrice, Fanelli, Lavinia, Albamonte, Emilio, Ausili Cefaro, Carolina, Cerchiari, Antonella, Catteruccia, Michela, De Sanctis, Roberto, Leone, Daniela, Palermo, Concetta, Buchignani, Bianca, Onesimo, Roberta, Kuczynska, Eliza Maria, Tosi, Michele, Pera, Maria Carmela, Bravetti, Chiara

Source: European Journal of Pediatrics; Nov2024, Vol. 183 Issue 11, p4735-4745, 11p

Subject Terms: TUBE feeding, SPINAL muscular atrophy, FEEDING tubes, CLINICAL trials, FISHER exact test

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