Assessing Bulbar Function in Spinal Muscular Atrophy Using Patient-Reported Outcomes

por Dunaway Young, Sally, Pasternak, Amy, Duong, Tina, McGrattan, Katlyn E., Stranberg, Sarah, Maczek, Elizabeth, Dias, Courtney, Tang, Whitney, Parker, Dana, Levine, Alexis, Rohan, Alyssa, Wolford, Connie, Martens, William, McDermott, Michael P., Darras, Basil T., Day, John W.
Publicado 2023

Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)

por Panosyan, Francis B., Laura, Matilde, Rossor, Alexander M., Pisciotta, Chiara, Piscosquito, Giuseppe, Burns, Joshua, Li, Jun, Yum, Sabrina W., Lewis, Richard A., Day, John, Horvath, Rita, Herrmann, David N., Shy, Michael E., Pareyson, Davide, Reilly, Mary M., Scherer, Steven S.
Publicado 2017

Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort

por Duong, Tina, Kishnani, Priya S., An Haack, Kristina, Foster, Meredith C., Gibson, James B., Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D., Peña, Loren D.M., Sparks, Susan E., Stockton, David W., Tanpaiboon, Pranoot, Day, John W.
Publicado 2022

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design

por Finkel, Richard S., Day, John W., De Vivo, Darryl C., Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Shieh, Perry B., Tizzano, Eduardo, Desguerre, Isabelle, Quijano-Roy, Susana, Saito, Kayoko, Droege, Marcus, Dabbous, Omar, Khan, Farid, Renault, Lydie, Anderson, Frederick A., Servais, Laurent
Publicado 2020

Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease

por Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D. M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, Hahn, Si Houn
Publicado 2019

Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)

por Finkel, Richard S., Darras, Basil T., Mendell, Jerry R., Day, John W., Kuntz, Nancy L., Connolly, Anne M., Zaidman, Craig M., Crawford, Thomas O., Butterfield, Russell J., Shieh, Perry B., Tennekoon, Gihan, Brandsema, John F., Iannaccone, Susan T., Shoffner, John, Kavanagh, Sarah, Macek, Thomas A., Tauscher-Wisniewski, Sitra
Publicado 2023

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

por Sellier, Chantal, Cerro-Herreros, Estefanía, Blatter, Markus, Freyermuth, Fernande, Gaucherot, Angeline, Ruffenach, Frank, Sarkar, Partha, Puymirat, Jack, Udd, Bjarne, Day, John W., Meola, Giovanni, Bassez, Guillaume, Fujimura, Harutoshi, Takahashi, Masanori P., Schoser, Benedikt, Furling, Denis, Artero, Ruben, Allain, Frédéric H. T., Llamusi, Beatriz, Charlet-Berguerand, Nicolas
Publicado 2018

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

Telomere shortening is a hallmark of genetic cardiomyopathies

por Chang, Alex C. Y., Chang, Andrew C. H., Kirillova, Anna, Sasagawa, Koki, Su, Willis, Weber, Gerhard, Lin, Jue, Termglinchan, Vittavat, Karakikes, Ioannis, Seeger, Timon, Dainis, Alexandra M., Hinson, John T., Seidman, Jonathan, Seidman, Christine E., Day, John W., Ashley, Euan, Wu, Joseph C., Blau, Helen M.
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

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

por 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, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

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

por 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, Fontoura, Paulo, Mercuri, Eugenio
Publicado 2023

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

Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

por Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, Day, John W.
Publicado 2021

Increased tissue stiffness triggers contractile dysfunction and telomere shortening in dystrophic cardiomyocytes

por Chang, Alex C.Y., Pardon, Gaspard, Chang, Andrew C.H., Wu, Haodi, Ong, Sang-Ging, Eguchi, Asuka, Ancel, Sara, Holbrook, Colin, Ramunas, John, Ribeiro, Alexandre J.S., LaGory, Edward L., Wang, Honghui, Koleckar, Kassie, Giaccia, Amato, Mack, David L., Childers, Martin K., Denning, Chris, Day, John W., Wu, Joseph C., Pruitt, Beth L., Blau, Helen M.
Publicado 2021

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

Firefly genomes illuminate parallel origins of bioluminescence in beetles

por Fallon, Timothy R, Lower, Sarah E, Chang, Ching-Ho, Bessho-Uehara, Manabu, Martin, Gavin J, Bewick, Adam J, Behringer, Megan, Debat, Humberto J, Wong, Isaac, Day, John C, Suvorov, Anton, Silva, Christian J, Stanger-Hall, Kathrin F, Hall, David W, Schmitz, Robert J, Nelson, David R, Lewis, Sara M, Shigenobu, Shuji, Bybee, Seth M, Larracuente, Amanda M, Oba, Yuichi, Weng, Jing-Ke
Publicado 2018

Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial

por Kishnani, Priya S., Diaz-Manera, Jordi, Toscano, Antonio, Clemens, Paula R., Ladha, Shafeeq, Berger, Kenneth I., Kushlaf, Hani, Straub, Volker, Carvalho, Gerson, Mozaffar, Tahseen, Roberts, Mark, Attarian, Shahram, Chien, Yin-Hsiu, Choi, Young-Chul, Day, John W., Erdem-Ozdamar, Sevim, Illarioshkin, Sergey, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, van der Ploeg, Ans T., An Haack, Kristina, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M., Schoser, Benedikt
Publicado 2023

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

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

por Moore, Ursula, Jacobs, Marni, Fernandez-Torron, Roberto, LLauger Rossello, Jaume, Smith, Fiona E., James, Meredith, Mayhew, Anna, Rufibach, Laura, Carlier, Pierre G., Blamire, Andrew M., Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Pestronk, Alan, Walter, Maggie C., Paradas, Carmen, Stojkovic, Tanya, Mori-Yoshimura, Madoka, Bravver, Elena, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, Straub, Volker, Diaz-Manera, Jordi
Publicado 2020