Found: 47

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  • Respiratory function and therapeutic expectations in DMD: families experience and perspective.

    Published in:
    Acta Myologica, 2020, v. 39, n. 3, p. 121, doi. 10.36185-2532-1900-016
    By:
    • Brogna, Claudia;
    • Lucibello, Simona;
    • Coratti, Giorgia;
    • Vita, Gianluca;
    • Sansone, Valeria A.;
    • Messina, Sonia;
    • Albamonte, Emilio;
    • Salmin, Francesca;
    • Ferrantini, Gloria;
    • Pede, Elisa;
    • Consulo, Chiara;
    • Fanelli, Lavinia;
    • Forcina, Nicola;
    • Norcia, Giulia;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Longitudinal natural history of type I spinal muscular atrophy: a critical review.

    Published in:
    2020
    By:
    • Mercuri, Eugenio;
    • Lucibello, Simona;
    • Perulli, Marco;
    • Coratti, Giorgia;
    • de Sanctis, Roberto;
    • Pera, Maria Carmela;
    • Pane, Marika;
    • Montes, Jacqueline;
    • de Vivo, Darryl C.;
    • Darras, Basil T.;
    • Kolb, Stephen J.;
    • Finkel, Richard S.
    Publication type:
    journal article

  • Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study.

    Published in:
    Children, 2023, v. 10, n. 4, p. 746, doi. 10.3390/children10040746
    By:
    • Brogna, Claudia;
    • Pane, Marika;
    • Coratti, Giorgia;
    • D'Amico, Adele;
    • Pegoraro, Elena;
    • Bello, Luca;
    • Sansone, Valeria Ada Maria;
    • Albamonte, Emilio;
    • Messina, Sonia;
    • Pini, Antonella;
    • D'Angelo, Maria Grazia;
    • Bruno, Claudio;
    • Mongini, Tiziana;
    • Ricci, Federica Silvia;
    • Berardinelli, Angela;
    • Battini, Roberta;
    • Masson, Riccardo;
    • Bertini, Enrico Silvio;
    • Politano, Luisa;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Early neurological signs in infants identified through neonatal screening for SMA: do they predict outcome?

    Published in:
    European Journal of Pediatrics, 2024, v. 183, n. 7, p. 2995, doi. 10.1007/s00431-024-05546-y
    By:
    • Pane, Marika;
    • Stanca, Giulia;
    • Ticci, Chiara;
    • Cutrona, Costanza;
    • De Sanctis, Roberto;
    • Pirinu, Matteo;
    • Coratti, Giorgia;
    • Palermo, Concetta;
    • Berti, Beatrice;
    • Leone, Daniela;
    • Sacchini, Michele;
    • Cerboneschi, Margherita;
    • Fanelli, Lavinia;
    • Norcia, Giulia;
    • Forcina, Nicola;
    • Capasso, Anna;
    • Cicala, Gianpaolo;
    • Antonaci, Laura;
    • Ricci, Martina;
    • Pera, Maria Carmela
    Publication type:
    Article

  • Assessing floppy infants: a new module.

    Published in:
    European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2771, doi. 10.1007/s00431-022-04476-x
    By:
    • Cutrona, Costanza;
    • Pede, Elisa;
    • De Sanctis, Roberto;
    • Coratti, Giorgia;
    • Tiberi, Eloisa;
    • Luciano, Rita;
    • Pera, Maria Carmela;
    • Velli, Chiara;
    • Capasso, Anna;
    • Vento, Giovanni;
    • Romeo, Domenico M.;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Neurological assessment of newborns with spinal muscular atrophy identified through neonatal screening.

    Published in:
    European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2821, doi. 10.1007/s00431-022-04470-3
    By:
    • Pane, Marika;
    • Donati, Maria Alice;
    • Cutrona, Costanza;
    • De Sanctis, Roberto;
    • Pirinu, Matteo;
    • Coratti, Giorgia;
    • Ricci, Martina;
    • Palermo, Concetta;
    • Berti, Beatrice;
    • Leone, Daniela;
    • Ticci, Chiara;
    • Sacchini, Michele;
    • Cerboneschi, Margherita;
    • Capasso, Anna;
    • Cicala, Gianpaolo;
    • Pera, Maria Carmela;
    • Bravetti, Chiara;
    • Abiusi, Emanuela;
    • Vaisfeld, Alessandro;
    • Vento, Giovanni
    Publication type:
    Article

  • Body mass index in type 2 spinal muscular atrophy: a longitudinal study.

    Published in:
    European Journal of Pediatrics, 2022, v. 181, n. 5, p. 1923, doi. 10.1007/s00431-021-04325-3
    By:
    • 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
    Publication type:
    Article

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

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 404, doi. 10.1002/acn3.51514
    By:
    • 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
    Publication type:
    Article

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

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 8, p. 1622, doi. 10.1002/acn3.51411
    By:
    • 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
    Publication type:
    Article

  • Type I SMA "new natural history": long‐term data in nusinersen‐treated patients.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 3, p. 548, doi. 10.1002/acn3.51276
    By:
    • 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
    Publication type:
    Article

  • Language Development in Preschool Duchenne Muscular Dystrophy Boys.

    Published in:
    Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1252, doi. 10.3390/brainsci12091252
    By:
    • Chieffo, Daniela Pia Rosaria;
    • Moriconi, Federica;
    • Mastrilli, Ludovica;
    • Lino, Federica;
    • Brogna, Claudia;
    • Coratti, Giorgia;
    • Altobelli, Michela;
    • Massaroni, Valentina;
    • Norcia, Giulia;
    • Ferraroli, Elisabetta;
    • Lucibello, Simona;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy.

    Published in:
    PLoS ONE, 2022, v. 17, n. 7, p. 1, doi. 10.1371/journal.pone.0271681
    By:
    • Coratti, Giorgia;
    • Lenkowicz, Jacopo;
    • Norcia, Giulia;
    • Lucibello, Simona;
    • Ferraroli, Elisabetta;
    • d'Amico, Adele;
    • Bello, Luca;
    • Pegoraro, Elena;
    • Messina, Sonia;
    • Ricci, Federica;
    • Mongini, Tiziana;
    • Berardinelli, Angela;
    • Masson, Riccardo;
    • Previtali, Stefano C.;
    • D'angelo, Grazia;
    • Magri, Francesca;
    • Comi, Giacomo P.;
    • Politano, Luisa;
    • Passamano, Luigia;
    • Vita, Gianluca
    Publication type:
    Article

  • Predictive models in SMA II natural history trajectories using machine learning: A proof of concept study.

    Published in:
    PLoS ONE, 2022, v. 17, n. 5, p. 1, doi. 10.1371/journal.pone.0267930
    By:
    • Coratti, Giorgia;
    • Lenkowicz, Jacopo;
    • Patarnello, Stefano;
    • Gullì, Consolato;
    • Pera, Maria Carmela;
    • Masciocchi, Carlotta;
    • Rinaldi, Riccardo;
    • Lovato, Valeria;
    • Leone, Antonio;
    • Cesario, Alfredo;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?

    Published in:
    Annals of Neurology, 2023, v. 94, n. 6, p. 1126, doi. 10.1002/ana.26788
    By:
    • Ricci, Martina;
    • Cicala, Gianpaolo;
    • Capasso, Anna;
    • Coratti, Giorgia;
    • Fiori, Stefania;
    • Cutrona, Costanza;
    • D'Amico, Adele;
    • Sansone, Valeria A.;
    • Bruno, Claudio;
    • Messina, Sonia;
    • Mongini, Tiziana;
    • Coccia, Michela;
    • Siciliano, Gabriele;
    • Pegoraro, Elena;
    • Masson, Riccardo;
    • Filosto, Massimiliano;
    • Comi, Giacomo P.;
    • Corti, Stefania;
    • Ronchi, Dario;
    • Maggi, Lorenzo
    Publication type:
    Article

  • Clinical Variability in Spinal Muscular Atrophy Type III.

    Published in:
    Annals of Neurology, 2020, v. 88, n. 6, p. 1109, doi. 10.1002/ana.25900
    By:
    • Coratti, Giorgia;
    • Messina, Sonia;
    • Lucibello, Simona;
    • Pera, Maria Carmela;
    • Montes, Jacqueline;
    • Pasternak, Amy;
    • Bovis, Francesca;
    • Exposito Escudero, Jessica;
    • Mazzone, Elena Stacy;
    • Mayhew, Anna;
    • Glanzman, Allan M.;
    • Young, Sally Dunaway;
    • Salazar, Rachel;
    • Duong, Tina;
    • Muni Lofra, Robert;
    • De Sanctis, Roberto;
    • Carnicella, Sara;
    • Milev, Evelin;
    • Civitello, Matthew;
    • Pane, Marika
    Publication type:
    Article

  • Nusinersen in type 1 spinal muscular atrophy: Twelve-month real-world data.

    Published in:
    2019
    By:
    • 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
    Publication type:
    journal article

  • Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy.

    Published in:
    Medicina (1010660X), 2021, v. 57, n. 11, p. 1, doi. 10.3390/medicina57111267
    By:
    • Brogna, Claudia;
    • Cristiano, Lara;
    • Verdolotti, Tommaso;
    • Norcia, Giulia;
    • Ficociello, Luana;
    • Ruiz, Roberta;
    • Coratti, Giorgia;
    • Fanelli, Lavinia;
    • Forcina, Nicola;
    • Petracca, Giorgia;
    • Chieppa, Fabrizia;
    • Tartaglione, Tommaso;
    • Colosimo, Cesare;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Effectiveness of Nusinersen in Adolescents and Adults with Spinal Muscular Atrophy: Systematic Review and Meta-analysis.

    Published in:
    Neurology & Therapy, 2024, v. 13, n. 5, p. 1483, doi. 10.1007/s40120-024-00653-2
    By:
    • Hagenacker, Tim;
    • Maggi, Lorenzo;
    • Coratti, Giorgia;
    • Youn, Bora;
    • Raynaud, Stephanie;
    • Paradis, Angela D.;
    • Mercuri, Eugenio
    Publication type:
    Article

  • North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.

    Published in:
    PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253882
    By:
    • Coratti, Giorgia;
    • Pane, Marika;
    • Brogna, Claudia;
    • Ricotti, Valeria;
    • Messina, Sonia;
    • D'Amico, Adele;
    • Bruno, Claudio;
    • Vita, Gianluca;
    • Berardinelli, Angela;
    • Mazzone, Elena;
    • Magri, Francesca;
    • Ricci, Federica;
    • Mongini, Tiziana;
    • Battini, Roberta;
    • Bello, Luca;
    • Pegoraro, Elena;
    • Baranello, Giovanni;
    • Previtali, Stefano C.;
    • Politano, Luisa;
    • Comi, Giacomo P.
    Publication type:
    Article

  • Assessing Prevalence and Characteristics of Oro-bulbar Involvement in Children and Adults with SMA Type 2 and 3 Using a Multimodal Approach.

    Published in:
    Dysphagia (0179051X), 2023, v. 38, n. 6, p. 1568, doi. 10.1007/s00455-023-10584-z
    By:
    • Trucco, Federica;
    • Salmin, Francesca;
    • Lizio, Andrea;
    • Coratti, Giorgia;
    • Albamonte, Emilio;
    • Frisoni, Maria Chiara;
    • Mauro, Luca;
    • Carraro, Elena;
    • Palazzo, Giovanni;
    • Lops, Jessica;
    • Cattaneo, Camilla;
    • Pozzi, Susanna;
    • Casiraghi, Jacopo;
    • Di Bari, Alessandra;
    • Berti, Beatrice;
    • Stanca, Giulia;
    • Ricci, Martina;
    • Pane, Marika;
    • Heatwole, Chad;
    • Dilek, Nuran
    Publication type:
    Article

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

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 6, p. 1755, doi. 10.1111/ene.15768
    By:
    • 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
    Publication type:
    Article

  • Diagnostic journey in Spinal Muscular Atrophy: Is it still an odyssey?

    Published in:
    PLoS ONE, 2020, v. 15, n. 3, p. 1, doi. 10.1371/journal.pone.0230677
    By:
    • Pera, Maria Carmela;
    • Coratti, Giorgia;
    • Berti, Beatrice;
    • D'Amico, Adele;
    • Sframeli, Maria;
    • Albamonte, Emilio;
    • de Sanctis, Roberto;
    • Messina, Sonia;
    • Catteruccia, Michela;
    • Brigati, Giorgia;
    • Antonaci, Laura;
    • Lucibello, Simona;
    • Bruno, Claudio;
    • Sansone, Valeria A.;
    • Bertini, Enrico;
    • Tiziano, Danilo;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53.

    Published in:
    PLoS ONE, 2019, v. 14, n. 6, p. 1, doi. 10.1371/journal.pone.0218683
    By:
    • Brogna, Claudia;
    • Coratti, Giorgia;
    • Pane, Marika;
    • Ricotti, Valeria;
    • Messina, Sonia;
    • D’Amico, Adele;
    • Bruno, Claudio;
    • Vita, Gianluca;
    • Berardinelli, Angela;
    • Mazzone, Elena;
    • Magri, Francesca;
    • Ricci, Federica;
    • Mongini, Tiziana;
    • Battini, Roberta;
    • Bello, Luca;
    • Pegoraro, Elena;
    • Baranello, Giovanni;
    • Previtali, Stefano C.;
    • Politano, Luisa;
    • Comi, Giacomo P.
    Publication type:
    Article

  • Hammersmith Infant Neurological Examination in low‐risk infants born very preterm: a longitudinal prospective study.

    Published in:
    Developmental Medicine & Child Neurology, 2022, v. 64, n. 7, p. 863, doi. 10.1111/dmcn.15201
    By:
    • Romeo, Domenico M.;
    • Apicella, Massimo;
    • Velli, Chiara;
    • Brogna, Claudia;
    • Ricci, Daniela;
    • Pede, Elisa;
    • Sini, Francesca;
    • Coratti, Giorgia;
    • Gallini, Francesca;
    • Cota, Francesco;
    • Bovis, Francesca;
    • Vento, Giovanni;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Performance of Upper Limb module for Duchenne muscular dystrophy.

    Published in:
    2020
    By:
    • Mayhew, Anna G;
    • Coratti, Giorgia;
    • Mazzone, Elena Stacy;
    • Klingels, Katrijn;
    • James, Meredith;
    • Pane, Marika;
    • Straub, Volker;
    • Goemans, Natalie;
    • Mercuri, Eugenio;
    • Ricotti, Valeria;
    • Muntoni, Francesco;
    • Ridout, Deborah;
    • Selby, Victoria;
    • Pul Working Group
    Publication type:
    journal article

  • Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy.

    Published in:
    2017
    By:
    • Pera, Maria C.;
    • Coratti^, Giorgia;
    • Forcina, Nicola;
    • Mazzone, Elena S.;
    • Scoto, Mariacristina;
    • Montes, Jacqueline;
    • Pasternak, Amy;
    • Mayhew, Anna;
    • Messina, Sonia;
    • Sframeli, Maria;
    • Main, Marion;
    • Lofra, Robert Muni;
    • Duong, Tina;
    • Ramsey, Danielle;
    • Dunaway, Sally;
    • Salazar, Rachel;
    • Fanelli^, Lavinia;
    • Civitello, Matthew;
    • de Sanctis, Roberto;
    • Antonaci, Laura
    Publication type:
    journal article

  • Caregivers' Expectations on Possible Functional Changes following Disease-Modifying Treatment in Type II and III Spinal Muscular Atrophy: A Comparative Study.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 13, p. 4183, doi. 10.3390/jcm12134183
    By:
    • Pera, Maria Carmela;
    • Coratti, Giorgia;
    • Casiraghi, Jacopo;
    • Bravetti, Chiara;
    • Fedeli, Alessandro;
    • Strika, Milija;
    • Albamonte, Emilio;
    • Antonaci, Laura;
    • Rossi, Diletta;
    • Pane, Marika;
    • Sansone, Valeria Ada;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 10, p. 3458, doi. 10.3390/jcm12103458
    By:
    • Rodriguez-Torres, Rafael S.;
    • Uher, David;
    • Gay, Emma L.;
    • Coratti, Giorgia;
    • Dunaway Young, Sally;
    • Rohwer, Annemarie;
    • Muni Lofra, Robert;
    • De Vivo, Darryl C.;
    • Hirano, Michio;
    • Glynn, Nancy W.;
    • Montes, Jacqueline
    Publication type:
    Article

  • 2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants.

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 1920, doi. 10.3390/jcm12051920
    By:
    • Stimpson, Georgia;
    • Ramsey, Danielle;
    • Wolfe, Amy;
    • Mayhew, Anna;
    • Scoto, Mariacristina;
    • Baranello, Giovanni;
    • Muni Lofra, Robert;
    • Main, Marion;
    • Milev, Evelin;
    • Coratti, Giorgia;
    • Pane, Marika;
    • Sansone, Valeria;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • Messina, Sonia;
    • Bruno, Claudio;
    • Albamonte, Emilio;
    • Mazzone, Elena Stacy;
    • Montes, Jacqueline;
    • Glanzman, Allan M.
    Publication type:
    Article

  • A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable?

    Published in:
    Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 403, doi. 10.3390/jcm12020403
    By:
    • Chieffo, Daniela P. R.;
    • Moriconi, Federica;
    • Pane, Marika;
    • Lucibello, Simona;
    • Ferraroli, Elisabetta;
    • Norcia, Giulia;
    • Ricci, Martina;
    • Capasso, Anna;
    • Cicala, Gianpaolo;
    • Buchignani, Bianca;
    • Coratti, Giorgia;
    • Cutrona, Costanza;
    • Pelizzari, Monia;
    • Brogna, Claudia;
    • Hendriksen, Jos G. M.;
    • Muntoni, Francesco;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 3, p. 665, doi. 10.3233/JND-230211
    By:
    • Wolfe, Amy;
    • Stimpson, Georgia;
    • Ramsey, Danielle;
    • Coratti, Giorgia;
    • Dunaway Young, Sally;
    • Mayhew, Anna;
    • Pane, Marika;
    • Rohwer, Annemarie;
    • Muni Lofra, Robert;
    • Duong, Tina;
    • O'Reilly, Emer;
    • Milev, Evelin;
    • Civitello, Matthew;
    • Sansone, Valeria A.;
    • D'Amico, Adele;
    • Bertini, Enrico;
    • Messina, Sonia;
    • Bruno, Claudio;
    • Albamonte, Emilio;
    • Mazzone, Elena
    Publication type:
    Article

  • Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.

    Published in:
    Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 85, doi. 10.3233/JND-221644
    By:
    • Cutrona, Costanza;
    • de Sanctis, Roberto;
    • Coratti, Giorgia;
    • Capasso, Anna;
    • Ricci, Martina;
    • Stanca, Giulia;
    • Carnicella, Sara;
    • Utlulig, Meric;
    • Bersani, Giulia;
    • lazzareschi, Ilaria;
    • Leoni, Chiara;
    • Buonsenso, Danilo;
    • Luciano, Rita;
    • Vento, Giovanni;
    • Finkel, Richard S.;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Development of an International SMA Bulbar Assessment for Inter-professional Administration.

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 639, doi. 10.3233/JND-221672
    By:
    • Dunaway Young, Sally;
    • McGrattan, Katlyn;
    • Johnson, Emily;
    • van der Heul, Marise;
    • Duong, Tina;
    • Bakke, Merete;
    • Werlauff, Ulla;
    • Pasternak, Amy;
    • Cattaneo, Camilla;
    • Hoffman, Katie;
    • Fanelli, Lavinia;
    • Breaks, Anne;
    • Allison, Kristen;
    • Baranello, Giovanni;
    • Finkel, Richard;
    • Coratti, Giorgia;
    • Lofra, Robert Muni
    Publication type:
    Article

  • Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

    Published in:
    Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556
    By:
    • Pane, Marika;
    • Coratti, Giorgia;
    • Brogna, Claudia;
    • Bovis, Francesca;
    • D'Amico, Adele;
    • Pegoraro, Elena;
    • Bello, Luca;
    • Sansone, Valeria;
    • Albamonte, Emilio;
    • Ferraroli, Elisabetta;
    • Mazzone, Elena Stacy;
    • Fanelli, Lavinia;
    • Messina, Sonia;
    • Catteruccia, Michela;
    • Cicala, Gianpaolo;
    • Ricci, Martina;
    • Frosini, Silvia;
    • De Luca, Giacomo;
    • Rolle, Enrica;
    • De Sanctis, Roberto
    Publication type:
    Article

  • Early Gross Motor Milestones in Duchenne Muscular Dystrophy.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 453, doi. 10.3233/JND-210640
    By:
    • Norcia, Giulia;
    • Lucibello, Simona;
    • Coratti, Giorgia;
    • Onesimo, Roberta;
    • Pede, Elisa;
    • Ferrantini, Gloria;
    • Brogna, Claudia;
    • Cicala, Graziamaria;
    • Carnicella, Sara;
    • Forcina, Nicola;
    • Fanelli, Lavinia;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.

    Published in:
    Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 589, doi. 10.3233/JND-200614
    By:
    • Berti, Beatrice;
    • Fanelli, Lavinia;
    • de Sanctis, Roberto;
    • Onesimo, Roberta;
    • Palermo, Concetta;
    • Leone, Daniela;
    • Carnicella, Sara;
    • Norcia, Giulia;
    • Forcina, Nicola;
    • Coratti, Giorgia;
    • Giorgio, Valentina;
    • Cerchiari, Antonella;
    • Lucibello, Simona;
    • Finkel, Richard;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    Article

  • Motor function in type 2 and 3 SMA patients treated with Nusinersen: a critical review and meta-analysis.

    Published in:
    2021
    By:
    • Coratti, Giorgia;
    • Cutrona, Costanza;
    • Pera, Maria Carmela;
    • Bovis, Francesca;
    • Ponzano, Marta;
    • Chieppa, Fabrizia;
    • Antonaci, Laura;
    • Sansone, Valeria;
    • Finkel, Richard;
    • Pane, Marika;
    • Mercuri, Eugenio
    Publication type:
    journal article

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

    Published in:
    Muscle & Nerve, 2021, v. 64, n. 5, p. 552, doi. 10.1002/mus.27384
    By:
    • 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
    Publication type:
    Article

  • Revised upper limb module for spinal muscular atrophy: 12 month changes.

    Published in:
    2019
    By:
    • Pera, Maria Carmela;
    • Coratti, Giorgia;
    • Mazzone, Elena S.;
    • Montes, Jacqueline;
    • Scoto, Mariacristina;
    • De Sanctis, Roberto;
    • Main, Marion;
    • Mayhew, Anna;
    • Muni Lofra, Robert;
    • Dunaway Young, Sally;
    • Glanzman, Allan M.;
    • Duong, Tina;
    • Pasternak, Amy;
    • Ramsey, Danielle;
    • Darras, Basil;
    • Day, John W.;
    • Finkel, Richard S.;
    • De Vivo, Darryl C.;
    • Sormani, Maria Pia;
    • Bovis, Francesca
    Publication type:
    journal article

  • Revised upper limb module for spinal muscular atrophy: Development of a new module.

    Published in:
    2017
    By:
    • Mazzone, Elena S.;
    • Mayhew, Anna;
    • Montes, Jacqueline;
    • Ramsey, Danielle;
    • Fanelli, Lavinia;
    • Young, Sally Dunaway;
    • Salazar, Rachel;
    • De Sanctis, Roberto;
    • Pasternak, Amy;
    • Glanzman, Allan;
    • Coratti, Giorgia;
    • Civitello, Matthew;
    • Forcina, Nicola;
    • Gee, Richard;
    • Duong, Tina;
    • Pane, Marika;
    • Scoto, Mariacristina;
    • Pera, Maria Carmela;
    • Messina, Sonia;
    • Tennekoon, Gihan
    Publication type:
    journal article

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

    Published in:
    European Journal of Neurology, 2024, v. 31, n. 8, p. 1, doi. 10.1111/ene.16309
    By:
    • 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
    Publication type:
    Article

  • SMN circular RNAs as potential new targets and biomarkers for the therapeutic response in Spinal Muscular Atrophy.

    Published in:
    Italian Journal of Anatomy & Embryology / Archivio Italiano di Anatomia Ed Embriologia, 2023, p. 154
    By:
    • Guerra, Marika;
    • Marini, Alberto;
    • Pitolli, Consuelo;
    • Pera, Maria Carmela;
    • Coratti, Giorgia;
    • Pagliarini, Vittoria;
    • Mercuri, Eugenio Maria;
    • Sette, Claudio
    Publication type:
    Article

  • Ambulatory function in spinal muscular atrophy: Age-related patterns of progression.

    Published in:
    PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199657
    By:
    • Montes, Jacqueline;
    • McDermott, Michael P.;
    • Mirek, Elizabeth;
    • Mazzone, Elena S.;
    • Main, Marion;
    • Glanzman, Allan M.;
    • Duong, Tina;
    • Young, Sally Dunaway;
    • Salazar, Rachel;
    • Pasternak, Amy;
    • Gee, Richard;
    • De Sanctis, Roberto;
    • Coratti, Giorgia;
    • Forcina, Nicola;
    • Fanelli, Lavinia;
    • Ramsey, Danielle;
    • Milev, Evelin;
    • Civitello, Matthew;
    • Pane, Marika;
    • Pera, Maria Carmela
    Publication type:
    Article

  • Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy.

    Published in:
    PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199222
    By:
    • Brogna, Claudia;
    • Cristiano, Lara;
    • Fanelli, Lavinia;
    • Coratti, Giorgia;
    • Forcina, Nicola;
    • De Santis, Roberto;
    • Norcia, Giulia;
    • Carnicella, Sara;
    • Pane, Marika;
    • Mercuri, Eugenio;
    • Battini, Roberta;
    • Tartaglione, Tommaso;
    • Verdolotti, Tommaso;
    • Ficociello, Luana;
    • Colosimo, Cesare;
    • Tasca, Giorgio;
    • Carlier, Pierre
    Publication type:
    Article

  • Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

    Published in:
    PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199223
    By:
    • Pane, Marika;
    • Coratti, Giorgia;
    • Brogna, Claudia;
    • Mazzone, Elena Stacy;
    • Fanelli, Lavinia;
    • De Sanctis, Roberto;
    • Forcina, Nicola;
    • Mercuri, Eugenio;
    • Gardani, Alice;
    • Berardinelli, Angela;
    • Pini, Antonella;
    • Monaco, Giulia;
    • D'Angelo, Maria Grazia;
    • Zanin, Riccardo;
    • Baranello, Giovanni;
    • Sansone, Valeria;
    • Albamonte, Emilio;
    • Sormani, Maria Pia;
    • Mayhew, Anna;
    • Messina, Sonia
    Publication type:
    Article

  • Revised North Star Ambulatory Assessment for Young Boys with Duchenne Muscular Dystrophy.

    Published in:
    PLoS ONE, 2016, v. 11, n. 8, p. 1, doi. 10.1371/journal.pone.0160195
    By:
    • Mercuri, Eugenio;
    • Coratti, Giorgia;
    • Messina, Sonia;
    • Ricotti, Valeria;
    • Baranello, Giovanni;
    • D’Amico, Adele;
    • Pera, Maria Carmela;
    • Albamonte, Emilio;
    • Sivo, Serena;
    • Mazzone, Elena Stacy;
    • Arnoldi, Maria Teresa;
    • Fanelli, Lavinia;
    • De Sanctis, Roberto;
    • Romeo, Domenico M;
    • Vita, Gian Luca;
    • Battini, Roberta;
    • Bertini, Enrico;
    • Muntoni, Francesco;
    • Pane, Marika
    Publication type:
    Article

  • Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.

    Published in:
    PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151445
    By:
    • Mazzone, Elena S.;
    • Coratti, Giorgia;
    • Sormani, Maria Pia;
    • Messina, Sonia;
    • Pane, Marika;
    • D'Amico, Adele;
    • Colia, Giulia;
    • Fanelli, Lavinia;
    • Berardinelli, Angela;
    • Gardani, Alice;
    • Lanzillotta, Valentina;
    • D’Ambrosio, Paola;
    • Petillo, Roberta;
    • Cavallaro, Filippo;
    • Frosini, Silvia;
    • Bello, Luca;
    • Bonfiglio, Serena;
    • De Sanctis, Roberto;
    • Rolle, Enrica;
    • Forcina, Nicola
    Publication type:
    Article