Muscular Atrophy, Spinal

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Rodriguez-Torres, R., Kanner, C. H., Gay, E. L., Uher, D., Corbeil, T., Coratti, G., Dunaway Young, S., Rohwer, A., Muni Lofra, R., McDermott, M. P., De Vivo, D. C., Wall, M. M., Glynn, N. W., & Montes, J. (2025). Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy. Journal of Neuromuscular Diseases, 12(1). https://doi.org/10.1177/22143602241313326
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Tizzano, E. F., Quijano-Roy, S., Servais, L., Parsons, J. A., Aharoni, S., Lakhotia, A., Finkel, R. S., Mercuri, E., Kirschner, J., De Vivo, D. C., Saito, K., Raju, D., Benguerba, K., Dabbous, O., Mumneh, N., Reyna, S. P., & Faulkner, E. (2024). Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec. European Journal of Paediatric Neurology, 53, 18–24. https://doi.org/10.1016/j.ejpn.2024.08.006
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Coratti, G., Bovis, F., Pera, M. C., Scoto, M., Montes, J., Pasternak, A., Mayhew, A., Muni‐Lofra, R., Duong, T., Rohwer, A., Dunaway Young, S., Civitello, M., Salmin, F., Mizzoni, I., Morando, S., Pane, M., Albamonte, E., D’Amico, A., … Brolatti, N. (2024). Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study. European Journal of Neurology, 31(8). Portico. https://doi.org/10.1111/ene.16309
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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
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Proud, C. M., Mercuri, E., Finkel, R. S., Kirschner, J., De Vivo, D. C., Muntoni, F., Saito, K., Tizzano, E. F., Desguerre, I., Quijano‐Roy, S., Benguerba, K., Raju, D., Faulkner, E., & Servais, L. (2023). Combination disease‐modifying treatment in spinal muscular atrophy: A proposed classification. Annals of Clinical and Translational Neurology, 10(11), 2155–2160. Portico. https://doi.org/10.1002/acn3.51889
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Uher, D., Yoon, L., Garber, C. E., & Montes, J. (2023). How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy? Journal of Neuromuscular Diseases, 10(5), 897–914. https://doi.org/10.3233/jnd-230033
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Finkel, R. S., Day, J. W., Pascual Pascual, S. I., Ryan, M. M., Mercuri, E., De Vivo, D. C., Montes, J., Gurgel-Giannetti, J., Monine, M., Gambino, G., Makepeace, C., Foster, R., Berger, Z., & DEVOTE Study Group (2023). DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results. Journal of neuromuscular diseases, 10(5), 813–823. https://doi.org/10.3233/JND-221667

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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
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Cheng, R., Feng, J., Goodwin, A. M., Uher, D., Rao, A. K., McDermott, M. P., De Vivo, D. C., Ewing Garber, C., & Montes, J. (2022). Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy. Muscle & Nerve, 68(1), 81–84. Portico. https://doi.org/10.1002/mus.27765
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Kim, J.-K., Jha, N. N., Awano, T., Caine, C., Gollapalli, K., Welby, E., Kim, S.-S., Fuentes-Moliz, A., Wang, X., Feng, Z., Sera, F., Takeda, T., Homma, S., Ko, C.-P., Tabares, L., Ebert, A. D., Rich, M. M., & Monani, U. R. (2023). A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses. Neuron, 111(9), 1423-1439.e4. https://doi.org/10.1016/j.neuron.2023.02.004
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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
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Faravelli, I., Riboldi, G. M., Rinchetti, P., & Lotti, F. (2023). The SMN Complex at the Crossroad between RNA Metabolism and Neurodegeneration. International Journal of Molecular Sciences, 24(3), 2247. https://doi.org/10.3390/ijms24032247
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Chiriboga, C. A. (2022). Pharmacotherapy for Spinal Muscular Atrophy in Babies and Children: A Review of Approved and Experimental Therapies. Pediatric Drugs, 24(6), 585–602. https://doi.org/10.1007/s40272-022-00529-8
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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
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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
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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
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Coratti, G., Carmela Pera, M., Montes, J., Scoto, M., Pasternak, A., Bovis, F., Sframeli, M., D’Amico, A., Pane, M., Albamonte, E., Antonaci, L., Lia Frongia, A., Mizzoni, I., Sansone, V. A., Russo, M., Bruno, C., Baranello, G., Messina, S., Dunaway Young, S., … Mercuri, E. (2022). Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes. Neuromuscular Disorders, 32(1), 36–42. https://doi.org/10.1016/j.nmd.2021.10.009
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