How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?

por Uher, David, Yoon, Lisa, Garber, Carol Ewing, Montes, Jacqueline
Publicado 2023

A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities

por Montes, Jacqueline, Eichinger, Katy J., Pasternak, Amy, Yochai, Cara, Krosschell, Kristin J.
Publicado 2022

Essential competencies for physical therapist managing individuals with spinal muscular atrophy: A delphi study

por Timmerberg, Jean Fitzpatrick, Krosschell, Kristin J., Dunaway Young, Sally, Uher, David, Yun, Chris, Montes, Jacqueline
Publicado 2021

Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression

por Towheed, Atif, Hietanen, Christian L., Kamath, Vasudeva G., Singh, Larry N., Ho, Angela, Engelstad, Kristin, Cornett, Kayla, Montes, Jacqueline, De Vivo, Darryl
Publicado 2021

Quantitative gait assessment in children with 16p11.2 syndrome

por Goldman, Sylvie, McCullough, Aston K., Young, Sally Dunaway, Mueller, Carly, Stahl, Adrianna, Zoeller, Audrey, Abbruzzese, Laurel Daniels, Rao, Ashwini K., Montes, Jacqueline
Publicado 2019

Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy

por Chiriboga, Claudia A., Swoboda, Kathryn J., Darras, Basil T., Iannaccone, Susan T., Montes, Jacqueline, De Vivo, Darryl C., Norris, Daniel A., Bennett, C. Frank, Bishop, Kathie M.
Publicado 2016

Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

por Montes, Jacqueline, Garber, Carol Ewing, Kramer, Samantha S., Montgomery, Megan J., Dunaway, Sally, Kamil-Rosenberg, Shirit, Carr, Brendan, Cruz, Rosangel, Strauss, Nancy E., Sproule, Douglas, De Vivo, Darryl C.
Publicado 2015

Measuring Fatigue and Fatigability in Spinal Muscular Atrophy (SMA): Challenges and Opportunities

por Rodriguez-Torres, Rafael S., Uher, David, Gay, Emma L., Coratti, Giorgia, Dunaway Young, Sally, Rohwer, Annemarie, Muni Lofra, Robert, De Vivo, Darryl C., Hirano, Michio, Glynn, Nancy W., Montes, Jacqueline
Publicado 2023

Longitudinal natural history of type I spinal muscular atrophy: a critical review

por 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.
Publicado 2020

Scientific rationale for a higher dose of nusinersen

por Finkel, Richard S., Ryan, Monique M., Pascual Pascual, Samuel Ignacio, Day, John W., Mercuri, Eugenio, De Vivo, Darryl C., Foster, Richard, Montes, Jacqueline, Gurgel‐Giannetti, Juliana, MacCannell, Drew, Berger, Zdenek
Publicado 2022

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

DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

por Finkel, Richard S., Day, John W., Pascual Pascual, Samuel Ignacio, Ryan, Monique M., Mercuri, Eugenio, De Vivo, Darryl C., Montes, Jacqueline, Gurgel-Giannetti, Juliana, Monine, Michael, Gambino, Giulia, Makepeace, Corinne, Foster, Richard, 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

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy

por Montes, Jacqueline, Goodwin, Ashley M., McDermott, Michael P., Uher, David, Hernandez, Feliz Marie, Coutts, Kayla, Cocchi, Julia, Hauschildt, Margarethe, Cornett, Kayla M., Rao, Ashwini K., Monani, Umrao R., Ewing Garber, Carol, De Vivo, Darryl C.
Publicado 2021

Nusinersen in later-onset spinal muscular atrophy: Long-term results from the phase 1/2 studies

por Darras, Basil T., Chiriboga, Claudia A., Iannaccone, Susan T., Swoboda, Kathryn J., Montes, Jacqueline, Mignon, Laurence, Xia, Shuting, Bennett, C. Frank, Bishop, Kathie M., Shefner, Jeremy M., Green, Allison M., Sun, Peng, Bhan, Ishir, Gheuens, Sarah, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C.
Publicado 2019

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

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

Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

por 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, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil T., De Vivo, Darryl C., Muntoni, Francesco, Finkel, Richard, Mercuri, Eugenio
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