Spinal Muscular Atrophies of Childhood

Displaying 1 - 10 of 10CSV
Coratti, G., Bovis, F., Pera, M. C., Civitello, M., Rohwer, A., Salmin, F., Glanzman, A. M., Montes, J., Pasternak, A., De Sanctis, R., Dunaway Young, S., Duong, T., Mizzoni, I., Milev, E., Sframeli, M., Morando, S., Albamonte, E., D’Amico, A., … Catteruccia, M. (2024). Long‐term natural history in type II and III spinal muscular atrophy: a 4‐year international study on the Hammersmith Functional Motor Scale Expanded. European Journal of Neurology, 31(12). Portico. https://doi.org/10.1111/ene.16517
Publication Date
Coratti, G., Civitello, M., Rohwer, A., Salmin, F., Glanzman, A. M., Montes, J., Pasternak, A., De Sanctis, R., Young, S. D., Duong, T., Mizzoni, I., Milev, E., Sframeli, M., Morando, S., Albamonte, E., D’Amico, A., Brolatti, N., Pane, M., Scoto, M., … Mercuri, E. (2024). Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA. Neuromuscular Disorders, 41, 42–50. https://doi.org/10.1016/j.nmd.2024.05.003
Publication Date
Servais, L., Day, J. W., De Vivo, D. C., Kirschner, J., Mercuri, E., Muntoni, F., Proud, C. M., Shieh, P. B., Tizzano, E. F., Quijano-Roy, S., Desguerre, I., Saito, K., Faulkner, E., Benguerba, K. M., Raju, D., LaMarca, N., Sun, R., Anderson, F. A., & Finkel, R. S. (2024). Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry. Journal of Neuromuscular Diseases, 11(2), 425–442. https://doi.org/10.3233/jnd-230122
Publication Date
Wolfe, A., Stimpson, G., Ramsey, D., Coratti, G., Dunaway Young, S., Mayhew, A., Pane, M., Rohwer, A., Muni Lofra, R., Duong, T., O’Reilly, E., Milev, E., Civitello, M., Sansone, V. A., D’Amico, A., Bertini, E., Messina, S., Bruno, C., … Albamonte, E. (2024). Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3. Journal of Neuromuscular Diseases, 11(3), 665–677. https://doi.org/10.3233/jnd-230211
Publication Date
Crawford, T. O., Swoboda, K. J., De Vivo, D. C., Bertini, E., Hwu, W., Finkel, R. S., Kirschner, J., Kuntz, N. L., Nazario, A. N., Parsons, J. A., Pechmann, A., Ryan, M. M., Butterfield, R. J., Topaloglu, H., Ben‐Omran, T., Sansone, V. A., Jong, Y., Shu, F., … Zhu, C. (2023). Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5‐year update of theNURTUREstudy. Muscle & Nerve, 68(2), 157–170. Portico. https://doi.org/10.1002/mus.27853
Publication Date
Sadjadi, R., Kelly, K., Glanzman, A. M., Montes, J., Linsenmayer, M., Tellez, M., Bartlett, A., Heintzman, S., Kolb, S. J., Arnold, W. D., & El‐Sheikh, B. (2023). Psychometric evaluation of modified spinal muscular atrophy functional rating scale (SMAFRS) in adult patients using Rasch analysis. Muscle & Nerve, 67(3), 239–243. Portico. https://doi.org/10.1002/mus.27785
Publication Date
Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Wigderson, M., Tauscher-Wisniewski, S., … Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1390–1397. https://doi.org/10.1038/s41591-022-01867-3
Publication Date
Darras, B. T., Guye, S., Hoffart, J., Schneider, S., Gravestock, I., Gorni, K., Fuerst‐Recktenwald, S., Scalco, R. S., Finkel, R. S., & De Vivo, D. C. (2022). Distribution of weight, stature, and growth status in children and adolescents with spinal muscular atrophy: An observational retrospective study in the United States. Muscle & Nerve, 66(1), 84–90. Portico. https://doi.org/10.1002/mus.27556
Publication Date
Strauss, K. A., Farrar, M. A., Muntoni, F., Saito, K., Mendell, J. R., Servais, L., McMillan, H. J., Finkel, R. S., Swoboda, K. J., Kwon, J. M., Zaidman, C. M., Chiriboga, C. A., Iannaccone, S. T., Krueger, J. M., Parsons, J. A., Shieh, P. B., Kavanagh, S., Tauscher-Wisniewski, S., McGill, B. E., & Macek, T. A. (2022). Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine, 28(7), 1381–1389. https://doi.org/10.1038/s41591-022-01866-4
Publication Date
Finkel, R. S., Ryan, M. M., Pascual Pascual, S. I., Day, J. W., Mercuri, E., De Vivo, D. C., Foster, R., Montes, J., Gurgel‐Giannetti, J., MacCannell, D., & Berger, Z. (2022). Scientific rationale for a higher dose of nusinersen. Annals of Clinical and Translational Neurology, 9(6), 819–829. Portico. https://doi.org/10.1002/acn3.51562
Publication Date