Browsing by Author "Pera, Maria Carmela"

Now showing items 1-3 of 3

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

      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; Scoto, Mariacristina; Day, John W; Tennekoon, Gihan; Finkel, Richard S; Darras, Basil T; Muntoni, Francesco; De Vivo, Darryl C; Mercuri, Eugenio (2018-06-26)
      Individuals with spinal muscular atrophy (SMA) type 3 are able to walk but they have weakness, gait impairments and fatigue. Our primary study objective was to examine longitudinal changes in the six-minute walk test (6MWT) ...

    • Patterns of disease progression in type 2 and 3 SMA : Implications for clinical trials 

      Mercuri, Eugenio; Finkel, Richard; Montes, Jacqueline; Mazzone, Elena S; Sormani, Maria Pia; Main, Marion; Ramsey, Danielle; Mayhew, Anna; Glanzman, Allan M; Dunaway, Sally; Salazar, Rachel; Pasternak, Amy; Quigley, Janet; Pane, Marika; Pera, Maria Carmela; Scoto, Mariacristina; Messina, Sonia; Sframeli, Maria; Vita, Gian Luca; D'Amico, Adele; van den Hauwe, Marleen; Sivo, Serena; Goemans, Nathalie; Kaufmann, Petra; Darras, Basil T; Bertini, Enrico; Muntoni, Francesco; De Vivo, Darryl C (2015-12-03)
      The aim of the study was to establish 12-month changes in the Hammersmith Functional motor scale in a large cohort of SMA patients, to identify patterns of disease progression and the effect of different variables. 268 ...

    • Revised Hammersmith Scale for Spinal Muscular Atrophy: : A SMA specific clinical outcome assessment tool 

      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; Day, John; Darras, Basil T; De Vivo, Darryl; Finkel, Richard; Mercuri, Eugenio; Muntoni, Francesco (2017-02-21)
      Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international ...