Found: 29

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

    Published in:
    European Journal of Pediatrics, 2024, v. 183, n. 11, p. 4735, doi. 10.1007/s00431-024-05735-9
    By:
    • 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
    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

  • New therapies for spinal muscular atrophy: where we stand and what is next.

    Published in:
    European Journal of Pediatrics, 2023, v. 182, n. 7, p. 2935, doi. 10.1007/s00431-023-04883-8
    By:
    • Antonaci, Laura;
    • Pera, Maria Carmela;
    • Mercuri, Eugenio
    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

  • The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage.

    Published in:
    2018
    By:
    • Ambrosini, Anna;
    • Calabrese, Daniela;
    • Avato, Francesco Maria;
    • Catania, Felice;
    • Cavaletti, Guido;
    • Pera, Maria Carmela;
    • Toscano, Antonio;
    • Vita, Giuseppe;
    • Monaco, Lucia;
    • Pareyson, Davide
    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

  • 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

  • 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

  • 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

  • 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

  • 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

  • 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

  • MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients.

    Published in:
    Journal of Neurology, 2020, v. 267, n. 4, p. 898, doi. 10.1007/s00415-019-09646-w
    By:
    • Brogna, Claudia;
    • Cristiano, Lara;
    • Verdolotti, Tommaso;
    • Pichiecchio, Anna;
    • Cinnante, Claudia;
    • Sansone, Valeria;
    • Sconfienza, Luca Maria;
    • Berardinelli, Angela;
    • Garibaldi, Matteo;
    • Antonini, Giovanni;
    • Pane, Marika;
    • Pera, Maria Carmela;
    • Antonaci, Laura;
    • Ficociello, Luana;
    • Albamonte, Emilio;
    • Tasca, Giorgio;
    • Begliuomini, Chiara;
    • Tartaglione, Tommaso;
    • Maggi, Lorenzo;
    • Govoni, Alessandra
    Publication type:
    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

  • Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo‐controlled, dose‐finding trial followed by 24 months of treatment.

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 7, p. 1945, doi. 10.1111/ene.15499
    By:
    • Mercuri, Eugenio;
    • Baranello, Giovanni;
    • Boespflug‐Tanguy, Odile;
    • De Waele, Liesbeth;
    • Goemans, Nathalie;
    • Kirschner, Janbernd;
    • Masson, Riccardo;
    • Mazzone, Elena S.;
    • Pechmann, Astrid;
    • Pera, Maria Carmela;
    • Vuillerot, Carole;
    • Bader‐Weder, Silvia;
    • Gerber, Marianne;
    • Gorni, Ksenija;
    • Hoffart, Janine;
    • Kletzl, Heidemarie;
    • Martin, Carmen;
    • McIver, Tammy;
    • Scalco, Renata S.;
    • Yeung, Wai Yin
    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

  • Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool.

    Published in:
    PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0172346
    By:
    • Ramsey, Danielle;
    • Scoto, Mariacristina;
    • Mayhew, Anna;
    • Main, Marion;
    • Mazzone, Elena S.;
    • Montes, Jacqueline;
    • de Sanctis, Roberto;
    • Dunaway Young, Sally;
    • Salazar, Rachel;
    • Glanzman, Allan M.;
    • Pasternak, Amy;
    • Quigley, Janet;
    • Mirek, Elizabeth;
    • Duong, Tina;
    • Gee, Richard;
    • Civitello, Matthew;
    • Tennekoon, Gihan;
    • Pane, Marika;
    • Pera, Maria Carmela;
    • Bushby, Kate
    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

  • Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options.

    Published in:
    Epilepsy Research & Treatment, 2012, p. 1, doi. 10.1155/2012/642725
    By:
    • Brazzo, Daniela;
    • Carmela Pera, Maria;
    • Fasce, Marco;
    • Papalia, Grazia;
    • Balottin, Umberto;
    • Veggiotti, Pierangelo
    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

  • 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

  • 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

  • Intravenous methylprednisolone pulse therapy for children with epileptic encephalopathy.

    Published in:
    Functional Neurology, 2015, v. 30, n. 3, p. 173
    By:
    • Pera, Maria Carmela;
    • Randazzo, Giovanna;
    • Masnada, Silvia;
    • Dontin, Serena Donetti;
    • De Giorgis, Valentina;
    • Balottin, Umberto;
    • Veggiotti, Pierangelo
    Publication type:
    Article