Found: 25

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  • Which are the factors influencing NIV adaptation and tolerance in ALS patients?

    Published in:
    Neurological Sciences, 2021, v. 42, n. 3, p. 1023, doi. 10.1007/s10072-020-04624-x
    By:
    • Russo, Massimo;
    • Bonanno, Carmen;
    • Profazio, Claudia;
    • La Foresta, Stefania;
    • Faraone, Cristina;
    • Lizio, Andrea;
    • Vita, Gian Luca;
    • Sframeli, Maria;
    • Aricò, Irene;
    • Ruggeri, Paolo;
    • Toscano, Antonio;
    • Vita, Giuseppe;
    • Lunetta, Christian;
    • Messina, Sonia
    Publication type:
    Article

  • Psychosocial impact of sport activity in neuromuscular disorders.

    Published in:
    Neurological Sciences, 2020, v. 41, n. 9, p. 2561, doi. 10.1007/s10072-020-04345-1
    By:
    • Vita, Gian Luca;
    • Stancanelli, Claudia;
    • La Foresta, Stefania;
    • Faraone, Cristina;
    • Sframeli, Maria;
    • Ferrero, Amanda;
    • Fattore, Cinzia;
    • Galbo, Rosy;
    • Ferraro, Manfredi;
    • Ricci, Giulia;
    • Cotti Piccinelli, Stefano;
    • Pizzighello, Silvia;
    • Filosto, Massimiliano;
    • Martinuzzi, Andrea;
    • Padua, Luca;
    • Trimarchi, Giuseppe;
    • Siciliano, Gabriele;
    • Mongini, Tiziana;
    • Lombardo, Maria Elena;
    • Berardinelli, Angela
    Publication type:
    Article

  • Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center.

    Published in:
    2018
    By:
    • La Foresta, Stefania;
    • Faraone, Cristina;
    • Sframeli, Maria;
    • Vita, Gian Luca;
    • Russo, Massimo;
    • Profazio, Claudia;
    • Rulli, Immacolata;
    • Gitto, Eloisa;
    • Versaci, Antonio;
    • Messina, Sonia;
    • Vita, Giuseppe
    Publication type:
    journal article

  • Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

    Published in:
    2016
    By:
    • Zaharieva, Irina T.;
    • Thor, Michael G.;
    • Oates, Emily C.;
    • Karnebeek, Clara van;
    • Hendson, Glenda;
    • Blom, Eveline;
    • Witting, Nanna;
    • Rasmussen, Magnhild;
    • Gabbett, Michael T.;
    • Ravenscroft, Gianina;
    • Sframeli, Maria;
    • Suetterlin, Karen;
    • Sarkozy, Anna;
    • D'Argenzio, Luigi;
    • Hartley, Louise;
    • Matthews, Emma;
    • Pitt, Matthew;
    • Vissing, John;
    • Ballegaard, Martin;
    • Krarup, Christian
    Publication type:
    journal article

  • Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4329, doi. 10.3390/ijms22094329
    By:
    • Bianchi, Laura;
    • Sframeli, Maria;
    • Vantaggiato, Lorenza;
    • Vita, Gian Luca;
    • Ciranni, Annamaria;
    • Polito, Francesca;
    • Oteri, Rosaria;
    • Gitto, Eloisa;
    • Di Giuseppe, Fabrizio;
    • Angelucci, Stefania;
    • Versaci, Antonio;
    • Messina, Sonia;
    • Vita, Giuseppe;
    • Bini, Luca;
    • Aguennouz, M'hammed;
    • Bross, Peter
    Publication type:
    Article

  • New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2222, doi. 10.3390/jcm9072222
    By:
    • Messina, Sonia;
    • Sframeli, Maria
    Publication type:
    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

  • Old measures and new scores in spinal muscular atrophy patients.

    Published in:
    Muscle & Nerve, 2015, v. 52, n. 3, p. 435, doi. 10.1002/mus.24748
    By:
    • Mazzone, Elena;
    • Montes, Jacqueline;
    • Main, Marion;
    • Mayhew, Anna;
    • Ramsey, Danielle;
    • Glanzman, Allan M.;
    • Dunaway, Sally;
    • Salazar, Rachel;
    • Pasternak, Amy;
    • Quigley, Janet;
    • Pane, Marika;
    • Pera, Maria C.;
    • Scoto, Mariacristina;
    • Messina, Sonia;
    • Sframeli, Maria;
    • D'amico, Adele;
    • Van Den Hauwe, Marleen;
    • Sivo, Serena;
    • Goemans, Nathalie;
    • Darras, Basil T.
    Publication type:
    Article

  • Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

    Published in:
    Muscle & Nerve, 2015, v. 52, n. 1, p. 13, doi. 10.1002/mus.24503
    By:
    • Magliano, Lorenza;
    • Patalano, Melania;
    • Sagliocchi, Alessandra;
    • Scutifero, Marianna;
    • Zaccaro, Antonella;
    • D'angelo, Maria Grazia;
    • Civati, Federica;
    • Brighina, Erika;
    • Vita, Giuseppe;
    • Vita, Gian Luca;
    • Messina, Sonia;
    • Sframeli, Maria;
    • Pane, Marika;
    • Lombardo, Maria Elena;
    • Scalise, Roberta;
    • D'amico, Adele;
    • Colia, Giulia;
    • Catteruccia, Michela;
    • Balottin, Umberto;
    • Berardinelli, Angela
    Publication type:
    Article

  • A Phase 1/2 Study of Flavocoxid, an Oral NF-κB Inhibitor, in Duchenne Muscular Dystrophy.

    Published in:
    Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 115, doi. 10.3390/brainsci11010115
    By:
    • Vita, Gian Luca;
    • Sframeli, Maria;
    • Licata, Norma;
    • Bitto, Alessandra;
    • Romeo, Sara;
    • Frisone, Francesca;
    • Ciranni, Annamaria;
    • Pallio, Giovanni;
    • Mannino, Federica;
    • Aguennouz, M'Hammed;
    • Rodolico, Carmelo;
    • Squadrito, Francesco;
    • Toscano, Antonio;
    • Messina, Sonia;
    • Vita, Giuseppe
    Publication type:
    Article

  • Effect of exercise on telomere length and telomere proteins expression in mdx mice.

    Published in:
    Molecular & Cellular Biochemistry, 2020, v. 470, n. 1/2, p. 189, doi. 10.1007/s11010-020-03761-3
    By:
    • Vita, Gian Luca;
    • Aguennouz, M'hammed;
    • Sframeli, Maria;
    • Sanarica, Francesca;
    • Mantuano, Paola;
    • Oteri, Rosaria;
    • Polito, Francesca;
    • Licata, Norma;
    • Romeo, Sara;
    • Distefano, Maria Grazia;
    • La Rosa, Matteo;
    • Bonanno, Carmen;
    • Nicocia, Giulia;
    • Vita, Giuseppe;
    • De Luca, Annamaria;
    • Messina, Sonia
    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

  • 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

  • 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

  • Impaired myocardial strain in early stage of Duchenne muscular dystrophy: its relation with age and motor performance.

    Published in:
    Acta Myologica, 2020, v. 39, n. 4, p. 191, doi. 10.36185/2532-1900-022
    By:
    • Oreto, Lilia;
    • Vita, Gian Luca;
    • Mandraffino, Giuseppe;
    • Carerj, Scipione;
    • Pia Calabrò, Maria;
    • Manganaro, Roberta;
    • Cusmà-Piccione, Maurizio;
    • Chiara Todaro, Maria;
    • Sframeli, Maria;
    • Cinquegrani, Maria;
    • Toscano, Antonio;
    • Vita, Giuseppe;
    • Messina, Sonia;
    • Zito, Concetta
    Publication type:
    Article

  • Integrated care of muscular dystrophies in Italy. Part 2. Psychological treatments, social and welfare support, and financial costs.

    Published in:
    Acta Myologica, 2017, v. 36, n. 2, p. 41
    By:
    • MAGLIANO, LORENZA;
    • SCUTIFERO, MARIANNA;
    • PATALANO, MELANIA;
    • SAGLIOCCHI, ALESSANDRA;
    • ZACCARO, ANTONELLA;
    • CIVATI, FEDERICA;
    • BRIGHINA, ERIKA;
    • VITA, GIANLUCA;
    • MESSINA, SONIA;
    • SFRAMELI, MARIA;
    • LOMBARDO, MARIA ELENA;
    • SCALISE, ROBERTA;
    • COLIA, GIULIA;
    • CATTERUCCIA, MARIA;
    • BERARDINELLI, ANGELA;
    • MOTTA, MARIA CHIARA;
    • GAIANI, ALESSANDRA;
    • SEMPLICINI, CLAUDIO;
    • BELLO, LUCA;
    • ASTREA, GUJA
    Publication type:
    Article

  • Integrated care of muscular dystrophies in Italy. Part 1. Pharmacological treatment and rehabilitative interventions.

    Published in:
    Acta Myologica, 2017, v. 36, p. 19
    By:
    • POLITANO, LUISA;
    • SCUTIFERO, MARIANNA;
    • PATALANO, MELANIA;
    • SAGLIOCCHI, ALESSANDRA;
    • ZACCARO, ANTONELLA;
    • CIVATI, FEDERICA;
    • BRIGHINA, ERIKA;
    • VITA, GIANLUCA;
    • MESSINA, SONIA;
    • SFRAMELI, MARIA;
    • LOMBARDO, MARIA ELENA;
    • SCALISE, ROBERTA;
    • COLIA, GIULIA;
    • CATTERUCCIA, MARIA;
    • BERARDINELLI, ANGELA;
    • MOTTA, MARIA CHIARA;
    • GAIANI, ALESSANDRA;
    • SEMPLICINI, CLAUDIO;
    • BELLO, LUCA;
    • ASTREA, GUJA
    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

  • 'I have got something positive out of this situation': psychological benefits of caregiving in relatives of young people with muscular dystrophy.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 1, p. 188, doi. 10.1007/s00415-013-7176-8
    By:
    • Magliano, Lorenza;
    • Patalano, Melania;
    • Sagliocchi, Alessandra;
    • Scutifero, Marianna;
    • Zaccaro, Antonella;
    • D'Angelo, Maria;
    • Civati, Federica;
    • Brighina, Erika;
    • Vita, Giuseppe;
    • Vita, Gian;
    • Messina, Sonia;
    • Sframeli, Maria;
    • Pane, Marika;
    • Lombardo, Maria;
    • Scalise, Roberta;
    • D'Amico, Adele;
    • Colia, Giulia;
    • Catteruccia, Michela;
    • Balottin, Umberto;
    • Berardinelli, Angela
    Publication type:
    Article

  • The 6-min walk test as a new outcome measure in Amyotrophic lateral sclerosis.

    Published in:
    Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72578-3
    By:
    • Russo, Massimo;
    • Lunetta, Christian;
    • Zuccarino, Riccardo;
    • Vita, Gian L.;
    • Sframeli, Maria;
    • Lizio, Andrea;
    • La Foresta, Stefania;
    • Faraone, Cristina;
    • Sansone, Valeria A.;
    • Vita, Giuseppe;
    • Messina, Sonia
    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

  • 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

  • Modulation of neuronal nitric oxide synthase and apoptosis by the isoflavone genistein in Mdx mice.

    Published in:
    Biofactors, 2015, v. 41, n. 5, p. 324, doi. 10.1002/biof.1226
    By:
    • Messina, Sonia;
    • Bitto, Alessandra;
    • Vita, Gian Luca;
    • Aguennouz, M'hammed;
    • Irrera, Natasha;
    • Licata, Norma;
    • Sframeli, Maria;
    • Bruschetta, Daniele;
    • Minutoli, Letteria;
    • Altavilla, Domenica;
    • Vita, Giuseppe;
    • Squadrito, Francesco
    Publication type:
    Article