Found: 15

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  • 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

  • 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

  • Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy.

    Published in:
    PLoS ONE, 2023, v. 17, n. 4, p. 1, doi. 10.1371/journal.pone.0283669
    By:
    • Ayyar Gupta, Vandana;
    • Pitchforth, Jacqueline M.;
    • Domingos, Joana;
    • Ridout, Deborah;
    • Iodice, Mario;
    • Rye, Catherine;
    • Chesshyre, Mary;
    • Wolfe, Amy;
    • Selby, Victoria;
    • Mayhew, Anna;
    • Mazzone, Elena S.;
    • Ricotti, Valeria;
    • Hogrel, Jean-Yves;
    • Niks, Erik H.;
    • de Groot, Imelda;
    • Servais, Laurent;
    • Straub, Volker;
    • Mercuri, Eugenio;
    • Manzur, Adnan Y.;
    • Muntoni, Francesco
    Publication type:
    Article

  • Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA).

    Published in:
    2023
    By:
    • Oskoui, Maryam;
    • Day, John W.;
    • Deconinck, Nicolas;
    • Mazzone, Elena S.;
    • Nascimento, Andres;
    • Saito, Kayoko;
    • Vuillerot, Carole;
    • Baranello, Giovanni;
    • Goemans, Nathalie;
    • Kirschner, Janbernd;
    • Kostera-Pruszczyk, Anna;
    • Servais, Laurent;
    • Papp, Gergely;
    • Gorni, Ksenija;
    • Kletzl, Heidemarie;
    • Martin, Carmen;
    • McIver, Tammy;
    • Scalco, Renata S.;
    • Staunton, Hannah;
    • Yeung, Wai Yin
    Publication type:
    Correction Notice

  • Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA).

    Published in:
    Journal of Neurology, 2023, v. 270, n. 5, p. 2531, doi. 10.1007/s00415-023-11560-1
    By:
    • Oskoui, Maryam;
    • Day, John W.;
    • Deconinck, Nicolas;
    • Mazzone, Elena S.;
    • Nascimento, Andres;
    • Saito, Kayoko;
    • Vuillerot, Carole;
    • Baranello, Giovanni;
    • Goemans, Nathalie;
    • Kirschner, Janbernd;
    • Kostera-Pruszczyk, Anna;
    • Servais, Laurent;
    • Papp, Gergely;
    • Gorni, Ksenija;
    • Kletzl, Heidemarie;
    • Martin, Carmen;
    • McIver, Tammy;
    • Scalco, Renata S.;
    • Staunton, Hannah;
    • Yeung, Wai Yin
    Publication type:
    Article

  • 6 Minute Walk Test in Duchenne MD Patients with Different Mutations: 12 Month Changes.

    Published in:
    PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0083400
    By:
    • Pane, Marika;
    • Mazzone, Elena S.;
    • Sormani, Maria Pia;
    • Messina, Sonia;
    • Vita, Gian Luca;
    • Fanelli, Lavinia;
    • Berardinelli, Angela;
    • Torrente, Yvan;
    • D'Amico, Adele;
    • Lanzillotta, Valentina;
    • Viggiano, Emanuela;
    • D'Ambrosio, Paola;
    • Cavallaro, Filippo;
    • Frosini, Silvia;
    • Bello, Luca;
    • Bonfiglio, Serena;
    • Scalise, Roberta;
    • De Sanctis, Roberto;
    • Rolle, Enrica;
    • Bianco, Flaviana
    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

  • Development of the Performance of the Upper Limb module for Duchenne muscular dystrophy.

    Published in:
    Developmental Medicine & Child Neurology, 2013, v. 55, n. 11, p. 1038, doi. 10.1111/dmcn.12213
    By:
    • Mayhew, Anna;
    • Mazzone, Elena S;
    • Eagle, Michelle;
    • Duong, Tina;
    • Ash, Maria;
    • Decostre, Valerie;
    • Vandenhauwe, Marlene;
    • Klingels, Katrijn;
    • Florence, Julaine;
    • Main, Marion;
    • Bianco, Flaviana;
    • Henrikson, Erik;
    • Servais, Laurent;
    • Campion, Giles;
    • Vroom, Elizabeth;
    • Ricotti, Valeria;
    • Goemans, Natalie;
    • Mcdonald, Craig;
    • Mercuri, Eugenio
    Publication type:
    Article

  • A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy.

    Published in:
    Developmental Medicine & Child Neurology, 2012, v. 54, n. 10, p. 879, doi. 10.1111/j.1469-8749.2012.04345.x
    By:
    • MAZZONE, ELENA S;
    • VASCO, GESSICA;
    • PALERMO, CONCETTA;
    • BIANCO, FLAVIANA;
    • GALLUCCIO, CARMEN;
    • RICOTTI, VALERIA;
    • CASTRONOVO, ANTONELLA D;
    • MAURO, MARIA SOLE DI;
    • PANE, MARIKA;
    • MAYHEW, ANNA;
    • MERCURI, EUGENIO
    Publication type:
    Article

  • Nusinersen improves walking distance and reduces fatigue in later-onset spinal muscular atrophy.

    Published in:
    2019
    By:
    • Montes, Jacqueline;
    • Dunaway Young, Sally;
    • Mazzone, Elena S.;
    • Pasternak, Amy;
    • Glanzman, Allan M.;
    • Finkel, Richard S.;
    • Darras, Basil T.;
    • Muntoni, Francesco;
    • Mercuri, Eugenio;
    • De Vivo, Darryl C.;
    • Bishop, Kathie M.;
    • Schneider, Eugene;
    • Bennett, C. Frank;
    • Foster, Richard;
    • Farwell, Wildon;
    • CS2 and CS12 Study Groups
    Publication type:
    journal 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

  • Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

    Published in:
    2015
    By:
    • Montes, Jacqueline;
    • Glanzman, Allan M.;
    • Mazzone, Elena S.;
    • Martens, William B.;
    • Dunaway, Sally;
    • Pasternak, Amy;
    • Riley, Susan O;
    • Quigley, Janet;
    • Pandya, Shree;
    • De Vivo, Darryl C;
    • Kaufmann, Petra;
    • Chiriboga, Claudia A.;
    • Finkel, Richard S.;
    • Tennekoon, Gihan I.;
    • Darras, Basil T.;
    • Pane, Marika;
    • Mercuri, Eugenio;
    • Mcdermott, Michael P.
    Publication type:
    journal 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

  • 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