THE 6-MINUTE WALK TEST AND OTHER ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: LONGITUDINAL NATURAL HISTORY OBSERVATIONS OVER 48 WEEKS FROM A MULTICENTER STUDY

por Mcdonald, Craig M, Henricson, Erik K, Abresch, R Ted, Florence, Julaine M, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M, Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart
Publicado 2013

THE 6-MINUTE WALK TEST AND OTHER CLINICAL ENDPOINTS IN DUCHENNE MUSCULAR DYSTROPHY: RELIABILITY, CONCURRENT VALIDITY, AND MINIMAL CLINICALLY IMPORTANT DIFFERENCES FROM A MULTICENTE...

por McDonald, Craig M, Henricson, Erik K, Abresch, R Ted, Florence, Julaine, Eagle, Michelle, Gappmaier, Eduard, Glanzman, Allan M, Spiegel, Robert, Barth, Jay, Elfring, Gary, Reha, Allen, Peltz, Stuart W
Publicado 2013

Nusinersen Treatment of Children with Later-Onset Spinal Muscular Atrophy and Scoliosis Is Associated with Improvements or Stabilization of Motor Function †

por Dunaway Young, Sally, Montes, Jacqueline, Glanzman, Allan M., Gee, Richard, Day, John W., Finkel, Richard S., Darras, Basil T., De Vivo, Darryl C., Gambino, Giulia, Foster, Richard, Wong, Janice, Garafalo, Steve, Berger, Zdenek
Publicado 2023

Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy

por 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
Publicado 2019

Development, reliability and validity of the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS)

por Burns, Joshua, Finkel, Richard, Estilow, Tim, Hiscock, Andy, Laura, Matilde, Swingle, Polly, Patzko, Agnes, Glanzman, Allan, Acsadi, Gyula, Muntoni, Francesco, Reilly, Mary, Pareyson, Davide, Moroni, Isabella, Pagliano, Emanuela, Ramchandren, Sindhu, Eichinger, Kate, Ryan, Monique, Ouvrier, Robert, Shy, Michael, Shy, Rosemary
Publicado 2011

Developmental milestones in type I spinal muscular atrophy

por De Sanctis, Roberto, Coratti, Giorgia, Pasternak, Amy, Montes, Jacqueline, Pane, Marika, Mazzone, Elena S., Young, Sally Dunaway, Salazar, Rachel, Quigley, Janet, Pera, Maria C., Antonaci, Laura, Lapenta, Leonardo, Glanzman, Allan M., Tiziano, Danilo, Muntoni, Francesco, Darras, Basil T., De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio
Publicado 2016

Evaluator Training and Reliability for SMA Global Nusinersen Trials(1)

por Glanzman, Allan M., Mazzone, Elena S., Young, Sally Dunaway, Gee, Richard, Rose, Kristy, Mayhew, Anna, Nelson, Leslie, Yun, Chris, Alexander, Katie, Darras, Basil T., Zolkipli-Cunningham, Zarazuela, Tennekoon, Gihan, Day, John W., Finkel, Richard S., Mercuri, Eugenio, De Vivo, Darryl C., Baldwin, Ron, Bishop, Kathie M., Montes, Jacqueline
Publicado 2018

Nusinersen Treatment in Adults With Spinal Muscular Atrophy

por Duong, Tina, Wolford, Connie, McDermott, Michael P., Macpherson, Chelsea E., Pasternak, Amy, Glanzman, Allan M., Martens, William B., Kichula, Elizabeth, Darras, Basil T., De Vivo, Darryl C., Zolkipli-Cunningham, Zarazuela, Finkel, Richard S., Zeineh, Michael, Wintermark, Max, Sampson, Jacinda, Hagerman, Katharine A., Young, Sally Dunaway, Day, John W.
Publicado 2021

Development of a Mitochondrial Myopathy-Composite Assessment Tool

por Flickinger, Jean, Fan, Jiaxin, Wellik, Amanda, Ganetzky, Rebecca, Goldstein, Amy, Muraresku, Colleen C., Glanzman, Allan M., Ballance, Elizabeth, Leonhardt, Kristin, McCormick, Elizabeth M., Soreth, Brianna, Nguyen, Sara, Gornish, Jennifer, George-Sankoh, Ibrahim, Peterson, James, MacMullen, Laura E., Vishnubhatt, Shailee, McBride, Michael, Haas, Richard, Falk, Marni J., Xiao, Rui, Zolkipli-Cunningham, Zarazuela
Publicado 2021

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

por 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
Publicado 2017

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

por 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.
Publicado 2016

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

por 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
Publicado 2018

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

por 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., Zolkipli-Cunningham, Zarazuela, Pasternak, Amy, Duong, Tina, Dunaway Young, Sally, Civitello, Matthew, Marini-Bettolo, Chiara, Day, John W., Darras, Basil T., De Vivo, Darryl C., Finkel, Richard S., Mercuri, Eugenio, Muntoni, Francesco
Publicado 2023

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

por 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, Frongia, Anna Lia, Rohwer, Annemarie, Scoto, Mariacristina, De Vivo, Darryl C., Darras, Basil T., Day, John, Martens, William, Patanella, Katia A., Bertini, Enrico, Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio
Publicado 2021

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

por 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, DʼAmico, Adele, Mizzoni, Irene, Albamonte, Emilio, Darras, Basil T., Bertini, Enrico, Sansone, Valeria A., Bovis, Francesca, Day, John, Bruno, Claudio, Muntoni, Francesco, De Vivo, Darryl C., Finkel, Richard, Mercuri, Eugenio
Publicado 2021

Ataluren treatment of patients with nonsense mutation dystrophinopathy

por Bushby, Katharine, Finkel, Richard, Wong, Brenda, Barohn, Richard, Campbell, Craig, Comi, Giacomo P, Connolly, Anne M, Day, John W, Flanigan, Kevin M, Goemans, Nathalie, Jones, Kristi J, Mercuri, Eugenio, Quinlivan, Ros, Renfroe, James B, Russman, Barry, Ryan, Monique M, Tulinius, Mar, Voit, Thomas, Moore, Steven A, Lee Sweeney, H, Abresch, Richard T, Coleman, Kim L, Eagle, Michelle, Florence, Julaine, Gappmaier, Eduard, Glanzman, Allan M, Henricson, Erik, Barth, Jay, Elfring, Gary L, Reha, Allen, Spiegel, Robert J, O'donnell, Michael W, Peltz, Stuart W, Mcdonald, Craig M, FOR THE PTC124-GD-007-DMD STUDY GROUP
Publicado 2014